ChapterPDF Available

Fetal Abdominal Wall Defects

Authors:
Selection of our books indexed in the Book Citation Index
in Web of Science™ Core Collection (BKCI)
Interested in publishing with us?
Contact book.department@intechopen.com
Numbers displayed above are based on latest data collected.
For more information visit www.intechopen.com
Open access books available
Countries delivered to Contributors from top 500 universities
International authors and editor s
Our authors are among the
most cited scientists
Downloads
We are IntechOpen,
the first native scientific
publisher of Open Access books
12.2%
108,000
1.7 M
TOP 1%
151
3,350
Chapter 10
Fetal Abdominal Wall Defects
Roxana Cristina Drăgușin, Maria Șorop-Florea,
Ciprian Laurențiu Pătru, Lucian Zorilă,
Cristian Marinaș, Nicolae Cernea,
Cristian Neamțu and Dominic Gabriel Iliescu
Additional information is available at the end of the chapter
http://dx.doi.org/10.5772/intechopen.71936
© 2016 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution,
and reproduction in any medium, provided the original work is properly cited.
Roxana CristinaDrăgușin, MariaȘorop-Florea,
Ciprian LaurențiuPătru, LucianZorilă, CristianMarinaș,
NicolaeCernea, CristianNeamțu and
Dominic GabrielIliescu
Additional information is available at the end of the chapter
Abstract
Abdominal wall defects (AWDs) represent a group of congenital anomalies that can be

direct impact on pre- and postnatal fetal prognosis and management decisions. The most
frequent anomalies in this group are gastroschisis and omphalocele. The key method
-

-

-
      

Postnatal early interventions are usually required in specialized pediatric centers.
Keywords:
ultrasound
1. Introduction
 
herniation of abdominal organs through an unusual opening surrounding the umbilical cord.
The most common two types include omphalocele and gastroschisis. The omphalocele or

  
© 2018 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative
Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use,
distribution, and reproduction in any medium, provided the original work is properly cited.


1]. The correct




2. Embryology/pathophysiology and demographics
      

              
  2
3
4   
  56]. It
is considered that an abnormal closure of the ventral body wall folds during the 4th week
    
7-
  
paracetamol and pseudoephedrine) may be important contributors to the development of gas-
89]. A combination of genetic and environmental factors was also thought to be
1012].
13
          
14
10]. The oldest embryologic

15]. Another theory pleads for the rupture of the amniotic membrane at the
16] or for the disruption of the omphalomesenteric (yolk-sac and
17]. As there
is no evidence that for the amniotic rupture almost exclusively on the right side and that the

185

     

19]. A physiological hernia seldom exceeds 7 mm in diameter or rarely
20].

15
Congenital Anomalies - From the Embryo to the Neonate208
The prevalence of the two most frequent entities of AWDs is reported to be for gastroschisis

21]. The prevalence of gastroschisis has increased in the last
   22]. Regarding the prenatal diag-


2324           -
  

21].


3.1. Gastroschisis
Gastroschisis is an AWD characterized by the herniation of the abdominal viscera represented
by bowel loops and occasionally parts of other abdominal organs outside the abdominal wall
         
2526

     
27    28 -
         29       

30
-
31
        
32]. The key to an accurate diagnosis is
    

   33]. Misdiagnosis of gas-

chromosomal anomalies and unnecessary amniocentesis may be needed with additional risks
34-
35]. After correctly

herniation of the bowel loops with no covering membrane (e.g. Figure 1a
defect is on the right side of the umbilical cord with a normal umbilical cord insertion. Beside


Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
209

bowel loops with a thickened and echogenic bowel wall (e.g. Figure 1b). Regarding the amni-

       
36-
-

37
 38 

-
 
-
 39     40 
41
               
42
43]. The proposed
           
37

the herniated bowel. Formulas that do not include abdominal circumference can be helpful in
44].
3.2. Omphalocele

into the amniotic cavity through the base of the umbilical cord. The herniated abdominal

Figure 1.  
        

Congenital Anomalies - From the Embryo to the Neonate210
      26  -

45

          
-
        6]. The covering membrane of the omphalocele

           
  
             
     
46-
34  30]. The most frequent
         -


            
mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3
47]. The risk of aneuploidy
-
14]. Non-chromosomal abnormalities include
 


48]. The diagnosis is possible even

Figure 2a and b-
-
    14 49   

(e.g. Figure 2a and b





50 51    
   -
         
52]. In

 
       53      
Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
211
   53].
   

      
          -

anomalies.
3.3. Ectopia cordis



Figure 2.

Congenital Anomalies - From the Embryo to the Neonate212
  54] (e.g. Figure 3a). The most frequent
          
       
5556
57
58]. The
59
       
5760
55]. The
        
    
6162
   63]. Three-dimensional (3D) scan can improve
64]. Invasive
65]. This rare malfor-
  

   66      
67

optimal parental counseling. The couple must decide whether they opt for termination of


       
63]. Prenatal care and accu-

health care system is lacking currently important physical and material resources.
Figure 3.
Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
213
3.4. Body stalk syndrome or limb: Body wall complex

              
68]. The anomaly

69] (e.g. Figure 3b). This is due to a large wall defect
26-
70
there is no association with chromosomal anomalies; still placental trisomy 16 or maternal
71]. The recurrence rate has been demonstrated
6872]. The reported
73] or even higher 1 in 7500
74
75 -
7677

   natomic landmarks (Figure 4ab).
-
          
-

77

7874] and oligohydramnios can be present in the second
      79].
80

80


an accurate diagnosis is often impossible. In the special situation represented by a twin preg-

80].
3.5. Cloacal and bladder exstrophy
Cloacal exstrophy (CE)-
nal tract that involves a low AWD with the exstrophy of all the structures that form the cloaca
-
     

such as abnormal overdevelopment of the lower cloaca that prevents mesenchymal tissue
81 82           
Congenital Anomalies - From the Embryo to the Neonate214
83]. In
   84 
             85]. Female


      


Doppler examination of both umbilical arteries can help in accurate localization of the blad-
86     
87
            -

-
88

89

90

91-

92-

Figure 4.

Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
215

-
vention with minimal damage to the exposed organs.
Bladder exstrophy represents an AWD with a failure of the anterior bladder wall to close
          93]. The reported incidence is
94
             


   
    95   
    


9396]. The accuracy and
       -
 97]. Bladder exstrophy should be consid-



-
rect detection of the anomaly helps in parental counseling and recommendation for delivery



86]. Besides the bladder
-
98].
3.6. Urachal cyst
-
       
99]. It is diag-



with excellent prognosis.

complex (OIES complex)
            

Congenital Anomalies - From the Embryo to the Neonate216
      100101]. The diagnosis is acces-
 
           


          
86]. As the prognosis is poor when multiple structural
   

        
100101].
3.8. Prune belly syndrome
      
          
        
consequence of severe bladder outlet obstruction and others consider an abdominal muscle
  
102

 
103104]. In the most severe form of Prune belly
-
105-
nancy. The postnatal management may include a single comprehensive surgical approach or

106].
3.9. Cantrell pentalogy
107
-

108]. The main event during embryo-
-
        108 

    -

109]. The combination of omphalocele and ecto-
110

86
Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
217
  
-
vival is uncommon. Prenatal diagnosis is important as termination of pregnancy is the only
option for the couple.
The ultrasound features that best characterize fetal AWDs are presented in Figure 526].
4. Pregnancy surveillance
           
       111        
112]. Fetuses
with gastroschisis often tend to be small for gestational age and to develop oligohydramnios
113114          
  115
         
Figure 5.26].
Congenital Anomalies - From the Embryo to the Neonate218
intrauterine growth restriction and oligohydramnios seem not to worsen the prognosis of
116-

  117 118         


  111]. Hospital admit-
-
112115].


delivery of fetuses with antenatal diagnosed abdominal wall defects remains a controversy.
      119125 
others consider a vaginal delivery more suitable in cases with diagnosed fetal abdominal
126130
131135

136     
 137]. The gestational
age for induced delivery or elective cesarean section is another controversy (preterm versus
       
138139
120124129140]. The

          
26

126141].
6. Postnatal prognosis and management
6.1. Gastroschisis

wrapped herniated loops in warm saline as there is an increased risk for water and heat losses
-

-
18
Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
219

    
1824].
6.2. Omphalocele
                
         

18].
        

-
            

of omphalocele that include serial reductions or closing the defect gradually after replacing
24].
7. Conclusion
     

              
        



pregnancy must be highlighted. This should be available even in under-developed health
systems.
Author details
1111
213 and Dominic Gabriel Iliescu1
*Address all correspondence to: roxy_dimieru@yahoo.com




Congenital Anomalies - From the Embryo to the Neonate220

 


             

Genetics. Part A. 2011;155A:2045-2059
 
88:201-234
 
26:1307-1321
 
19
         
    

 

2007;21:363-369
         
26:1135-1148
 
26:127-139
 
148C:199-212
           
America. 2000;10:297-316
 
   
99:261-269
 -
143A:660-671
 
39:401-406
 
38:142-147
Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
221
 10:235-244
      
         
1981;98:228-231
 

Williams and Wilkins; 1972. pp. 268-271
 

 
14(4):341-7
 
              
122:275-281
               
chromosomal abnormalities at 11-13 weeks. Prenatal Diagnosis. 2011;31:90-102
             

2013;122:1160-1167
 

57
             
28
 -
146A:1280-1285
 -
genital anomalies: How important is it? Prenatal Diagnosis. 2011;31:347-350
 
         

             
     
Gynecology. 2001;18
 
36:51-55
Congenital Anomalies - From the Embryo to the Neonate222
 -
42:1520-1525
        
       
Radiology. 1992 Apr;65(772):298-301
 Agarwal R. Prenatal diagnosis of anterior abdominal wall defects: Pictorial essay.
15(3):361-372
 
162
 
26
 -
30:266-270
             
           
201:383e1-383e6
 

57
2016 Nov 22
 
27:50-55
 
30:551-572. viii
 
2013

 
death rate in gastroschisis following the introduction of an antenatal surveillance pro-
         
Research. 2017 Mar;43
 -

29:1069-1074
 

1998;12(2):136
Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
223
 -
146A(10):1280-1285
    
46(1):1-8
          
46:96-102
   -
cency at 11-14 weeks on the likelihood of associated chromosomal abnormality. Prenatal
Diagnosis. 2012;32:1066-1070
 -

2010;36:687-692
     
diagnosis of isolated omphalocele. Prenatal Diagnosis. 2009;29:668-673
      

45:718-723
            
190(1):135-141
 
14(3):287-290
 
23(3):426-428
   -
  1(6):
431-434
 
 
  
review. Fetal Diagnosis andTherapy. 2007;22(4):269-273
       

 
   

 
30(3):805-810
Congenital Anomalies - From the Embryo to the Neonate224
 
27(8):440-445
 
Anatomy. 2014;27
             -
              
Gynecology. 2015;54
            
32(5):865-871.

 
17(1):64-66
 
17
 
28(3):529-548
 
the 2nd trimester. Fetal Diagnosis and Therapy. 2003;18:342-344
 
51:49-52
 
           
2000;94:284-286
 
India. 2004;60(1):77-80
 
Pediatrics. 1981;67:618-621
 
10(6):416-418
 
    11

 
2009:6. Art #37
 
40(4):285-290
Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
225
 
           25(1):67-70.

 -
31(4):289-292
              

2016;2016
 
1962;88:766-796
         

 
23(2):166-170
 
34:1233-1257
 
the international clearinghouse for birth defects surveillance and research. American
157C(4):333-343
             

 
12:38993
 
21(5):498-500
            

 -

2012;28(8):781
           -

Feb;25
  
    39    
19-06-2013
Congenital Anomalies - From the Embryo to the Neonate226
 

      
Genetics. 2011;157C(4):321-332
 
and Gynecology. 1958;11:104-107
            -
         
2013;32:1083-1101
 
85:961-964
 
8:140-144
            
repair of classic bladder exstrophy: A detailed postoperative management strategy for
8(5):549-555
 
Anatomical Record. 1941;80
 

 

 
-
31(1):13-24. doi:

 -
84(7):458-461
   
             
       23 

 

Gynecology. 01-11-1998
 -
           
11
Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
227
 
2(2):95-97
           

107(5):602-614
 -

Gynecological Association. 2012;13(2):145-148
           
35(4):216-220
        
32(3):441-444
 
           
18:309-316
 -
          
Aug;13(6):355-361
 
12:580-582
  . Fetal abdominal wall defects--easy to diagnose--and then what?
18(4):301-304
        
         
Medicine. 2016 Dec;29
 

13:701-706
              -
        
81:53-56
 

43
 
100(1):71-74.

Congenital Anomalies - From the Embryo to the Neonate228
 -

25(1):12-1.5
 
169:1050-1053
    
34:1393-1395
             
infants with prenatally diagnosed gastroschisis and planned preterm delivery. Pediatric
   31  

 
31(6):553
 
            
174:1134-1138
 -
   
43
 

2000;182
 
121(5):990-998.

 

2004;39(5):742-745
              
          
Gynecology. 2004;104
             

76:195-199
 
36:428-430
 
94:112-116
Fetal Abdominal Wall Defects
http://dx.doi.org/10.5772/intechopen.71936
229
          
16:164-172
      -

diagnosed fetal omphalocele. Fetal Diagnosis and Therapy. 2011;30:60-69
 
        48(11):2251-2255.

           
65
 -
tive preterm delivery at 34 weeks and primary abdominal closure for the manage-
        18 

             
     47  

 
39:375-386
Congenital Anomalies - From the Embryo to the Neonate230
... Other medical problems usually accompanies gastroschisis as infection, dehydration and hypothermia. Prematurity, congenital heart disease and small for gestational age can also present with neonates with gastroschisis [3,4]. ...
Article
Full-text available
Gastroschisis is defined as a congenital anterior abdominal wall defect which is rarely associated with other congenital anomalies. Gastrointestinal anomalies are the most common associations including malrotation. Other gut anomalies like intestinal duplication and Meckel's diverticulum are very rare. Our report a rare case of gastroschisis who is associated with malrotation, intestinal duplication and Meckel's diverticulum.
Article
Full-text available
Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain differences between them. BSA is a combination of developmental abnormalities involving neural tube, body wall, and the limbs with persistent extra embryonic coelomic cavity. ABS is characterized by the presence of thin membrane-like strands attached to fetal body parts and causing constrictions and amputations. This is a cohort study involving 32,100 patients who were referred for routine antenatal ultrasound scan. The data was entered prospectively into a computer database. The duration of study was 3 years. In our study, ultrasound examination in 86 patients demonstrated ventral wall defects, craniofacial defects, and spinal and limb deformities as isolated or combined abnormalities. In those, 10 patients were suspected/diagnosed as BSA/ABS including a twin of a dichorionic diamniotic gestation. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for the patient counselling and management. We are presenting these rare conditions and highlighting the importance of early sonographic imaging in diagnosing and differentiating them from other anterior abdominal wall defects.
Article
Full-text available
Three case reports of a rare congenital anomaly “limb-body wall complex” also known as “body stalk syndrome” are presented with prenatal ultrasonographic diagnostic features, immediate after delivery evaluation, and histopathologic analysis.
Article
A short umbilical cord was found in newborns for whom there was evidence of early intrauterine constraint and in those with gross structural or functional limb defects that limited intrauterine movement. These findings were interpreted as showing that umbilical cord growth occurs in response to tensile forces relating to intrauterine space availability and fetal movement during early development. Thus, the finding of a short umbilical cord may indicate diminished fetal movement from either early intrauterine constraint or fetal limb dysfunction.
Chapter
The circulatory pattern is fundamentally similar in all craniate embryos. An organism with as high a metabolic rate as that of vertebrates cannot grow beyond a volume of a few cubic millimetres without developing a functional circulatory system. It is not surprising, then, that the cardiovascular system is the first organ system of an embryo to reach a functional state. This precocity in the establishment of circulatory activity is doubtless to be explained by the necessity for the provision, at an early developmental stage, of adequate nutritional, respiratory, and excretory exchanges between the embryo and its environment which, in mammals, is the maternal organism. When, as the result of its growth and that of its surrounding membranes, the embryo has exceeded a certain very small size, simple diffusion can no longer meet its metabolic requirements. Moreover, each developing region in the embryo requires a blood supply sufficient to provide for the growth of its constituent cells. The tissues and organs derived from the regionally differentiating cells enlarge (or, in some instances, indeed diminish) in size at different rates. Hence, during gestation the vascular requirements of the different embryonic regions show much variation. There are, consequently, frequent and often striking regional alterations in the pattern of the developing blood vessels during the waxing and waning of growth processes in individual organs. The primordia of certain other systems, for example, the neural plate, appear at least as early as the blood-vascular elements but the latter develop so rapidly that they become functional while the others are still relatively undifferentiated. Hence well differentiated vascular elements are found in early embryos and are intimately associated with the very early primordia of all other organs.
Article
Aim: To investigate whether an antenatal surveillance protocol including ultrasound and cardiotocograph monitoring reduces intrauterine death (IUD) in cases of gastroschisis. Secondary outcomes included neonatal death rate, mode of delivery and rate of intervention before planned time of delivery. Methods: This was a retrospective observational study of all women with antenatally diagnosed gastroschisis who were managed according to the surveillance program between 2002 and 2015 in a tertiary fetal medicine and pediatric surgical center covering the Wessex region of England. We reviewed and analyzed data from the Wessex Antenatally Detected Anomalies (WANDA) database as well as prospectively managed maternity, ultrasound and neonatal databases over the given time period. Case notes were reviewed when delivery was expedited. Results: The IUD rate was 2.2%, a 58% reduction since the introduction of the surveillance protocol. Delivery was expedited in 35.4% of cases, and in 86% of these, delivery was by cesarean section. In women being induced as planned at 38 weeks, the vaginal delivery rate was 88%, and for those in spontaneous labor before 38 weeks it was 75%. Conclusions: An antenatal surveillance program appears to reduce the IUD in gastroschisis. In one-third of cases, delivery was indicated before the planned date of delivery. When expedited delivery was indicated, the chance of cesarean section was high.
Article
Background: Gastroschisis is the most common major congenital anomaly managed by paediatric surgeons. The significance of certain associated antenatal ultrasound features in determining fetal outcome is under discussion. Aim: The study aims to define if associated antenatal ultrasound features of gastroschisis are useful prognostic markers for fetal outcome. By establishing the significance of features, including extra- and intra-abdominal bowel dilatation, stomach herniation, stomach dilatation, bowel matting, growth restriction, abnormal umbilical artery (UA) Doppler ultrasounds, and abnormal amniotic fluid volume, it is hoped clinicians will have enhanced ability to counsel parents about the likely outcomes for their infant. Materials and methods: Retrospective analysis of ultrasound images, reports and medical records of 101 pregnancies affected by fetal gastroschisis managed by the Royal Brisbane and Women's Hospital Maternal and Fetal Medicine Department over a 13 and a half year period was performed. The presence of ultrasound features during antenatal surveillance corresponded to fetal outcome measures, including the diagnosis of postnatal complex gastroschisis, the number of operations required, length of parenteral feeding and length of stay in neonatal intensive care. Results: The only statistically significant predictor of complex cases of gastroschisis was extra-abdominal bowel dilatation. Although a statistically significant feature, approximately three-quarters (44/59) of all infants with gastroschisis with associated extra-abdominal bowel dilatation had simple gastroschisis. Conclusions: Extra-abdominal bowel dilatation is a statistically significant marker of complex gastroschisis and associated morbidity. Its presence in infants who had uncomplicated outcomes, suggests that clinically, its usefulness in antenatal counselling is still debatable.
Book
Anorectal Malformations in Children represents an international consensus in understanding and treating anorectal malformations. Interesting new topics include tethered cord, vaginal reconstruction, continent catherizable channels, and the impact on family studies by parents' organizations. The book not only carries on from the three previous editions by Douglas Stephens and Durham Smith (1963, 1971, and 1988) but assembles many new aspects in the broad field of anorectal and genitourinary malformations. Special attention is given to the new surgical techniques posterior sagittal anorectal plasty (PSARP), urogenital sinue advancement, and laparoscopy. The results of an international workshop of 26 international authorities on congenital malformations of the organs of the pelvis and perineum are presented. The new classification proposed at the Krickenberg Conference will enable future studies comparing the types and the results of treatment of anorectal malformations. The book is an invaluable reference for all medical authorities with a special interest in anorectal and genitourinary malformations.