Evaluation of prenatal diagnosis of fetal abdominal wall defects by 19 European registries

Department of Pediatrics, University of Zagreb, Zagrabia, Grad Zagreb, Croatia
Ultrasound in Obstetrics and Gynecology (Impact Factor: 3.85). 11/2001; 18(4):309-16. DOI: 10.1046/j.0960-7692.2001.00534.x
Source: PubMed

ABSTRACT To evaluate the current effectiveness of routine prenatal ultrasound screening in detecting gastroschisis and omphalocele in Europe.
Data were collected by 19 congenital malformation registries from 11 European countries. The registries used the same epidemiological methodology and registration system. The study period was 30 months (July 1st 1996-December 31st 1998) and the total number of monitored pregnancies was 690,123.
The sensitivity of antenatal ultrasound examination in detecting omphalocele was 75% (103/137). The mean gestational age at the first detection of an anomaly was 18 +/- 6.0 gestational weeks. The overall prenatal detection rate for gastroschisis was 83% (88/106) and the mean gestational age at diagnosis was 20 +/- 7.0 gestational weeks. Detection rates varied between registries from 25 to 100% for omphalocele and from 18 to 100% for gastroschisis. Of the 137 cases of omphalocele less than half of the cases were live births (n = 56; 41%). A high number of cases resulted in fetal deaths (n = 30; 22%) and termination of pregnancy (n = 51; 37%). Of the 106 cases of gastroschisis there were 62 (59%) live births, 13 (12%) ended with intrauterine fetal death and 31 (29%) had the pregnancies terminated.
There is significant regional variation in detection rates in Europe reflecting different policies, equipment and the operators' experience. A high proportion of abdominal wall defects is associated with concurrent malformations, syndromes or chromosomal abnormalities, stressing the need for the introduction of repeated detailed ultrasound examination as a standard procedure. There is still a relatively high rate of elective termination of pregnancies for both defects, even in isolated cases which generally have a good prognosis after surgical repair.

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Available from: Ingeborg Barisic, Oct 27, 2014
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    • "Gastroschisis is a serious congenital anterior abdominal wall defect with an increasing birth prevalence internationally [1] [2] [3] [4] [5]. Gastroschisis is also increasingly recognized prior to birth [6], thereby facilitating delivery in institutions capable of providing definitive neonatal medical and surgical care. The immediate survival of infants born with gastroschisis has steadily improved with most series now reporting rates of over 90% [7] [8] [9] [10]; however, there still remains a significant risk of short and long-term adverse outcomes [11] [12] [13] [14] [15]. "
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    ABSTRACT: Purpose To determine the progress, physical and metabolic outcomes of gastroschisis survivors. Methods Fifty children born with gastroschisis were assessed with a health questionnaire, physical assessment, bone density and nutritional blood parameters at a median age of 9 years (range 5–17). Results After initial abdominal closure, 27/50 (54%) required additional surgical interventions. Ten (20%) children had complex gastroschisis (CG). Abdominal pain was common: weekly in 41%; and requiring hospitalization in 30%. The weight, length and head circumference z-scores improved by a median 0.88 (p = 0.001), 0.56 (p = 0.006) and 0.74 (p = 0.018) of a standard deviation (SD) respectively from birth; 24% were overweight or obese at follow up. However, those with CG had significantly lower median weight z-scores (− 0.43 v 0.49, p = 0.0004) and body mass index (BMI) (− 0.48 v 0.42, p = 0.001) at follow up compared to children with simple gastroschisis. Cholesterol levels were elevated in 24% of children. Bone mineral density was reassuring. There were 15 instances of low blood vitamin and mineral levels. Conclusions Although gastroschisis survival levels are high, many children have significant ongoing morbidity. Children with simple gastroschisis showed significant catch up growth and a quarter had become overweight.
    Journal of Pediatric Surgery 10/2014; 49(10):1466–1470. DOI:10.1016/j.jpedsurg.2014.03.008 · 1.39 Impact Factor
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    • "First, prenatal ultrasonography has become a routine examination in pregnancy. The sensitivity of prenatal ultrasound screening in detecting omphalocele is 75% in the second trimester of pregnancy, ranking second among all of the congenital malformations that are diagnosed prenatally by ultrasound (anencephaly is the first) [24,28]. Second, prenatally diagnosed cases include more fetuses with a giant omphalocele or liver herniation compared with those postnatally diagnosed, and most women opt for termination of pregnancy or intrauterine death occurs [20]. "
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    ABSTRACT: Background Previous studies on the mortality rate of omphalocele are limited. The risk of death of non-isolated omphalocele and that of cases of omphalocele that are diagnosed prenatally by ultrasound are unclear. This study aimed to estimate the perinatal mortality of pregnancies with omphalocele. This study also examined the potential risk of death of non-isolated omphalocele and that of cases that are prenatally diagnosed by ultrasound. Methods Data were retrieved from the national birth defects registry in China, for 1996–2006. Multinomial logistic regression was used to calculate the adjusted odds ratios (AORs) and 95% confidence intervals (CIs) between perinatal mortality and selected maternal and fetal characteristics. Results Among 827 cases of omphalocele, 309 (37.4%) cases resulted in termination of pregnancy and stillbirth, and 124 (15.0%) cases resulted in death in the first 7 days after delivery, yielding a perinatal mortality rate of 52.4% (95% CI: 49.0–55.8%). The late fetal death rate (LFDR) of omphalocele that was diagnosed prenatally by ultrasound was 15.91-fold (AOR: 15.91, 95% CI: 10.18–24.87) higher than that of postnatally diagnosed cases. The LFDR of non-isolated omphalocele was 2.64-fold (AOR: 2.64, 95% CI: 1.62–4.29) higher than that of isolated cases. For the early neonatal death rate, neonates with non-isolated omphalocele had a 2.96-fold (AOR: 2.96, 95% CI: 1.82–4.81) higher risk than isolated cases, but the difference between prenatal ultrasound diagnosis and postnatal diagnosis was not significant. Conclusions Selected fetal characteristics are significantly associated with the perinatal risk of death from omphalocele. Our findings suggest that improving pregnancy and delivery care, as well as management for omphalocele are important.
    BMC Pediatrics 06/2014; 14(1):160. DOI:10.1186/1471-2431-14-160 · 1.93 Impact Factor
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    • "It seems that second-trimester maternal serum pregnancy associated plasma protein-A measurements may be a useful adjunct to ultrasonography and molecular testing of suspected cases in the prenatal diagnosis of CdLS [Aitken et al., 1999]. Many studies have analyzed the correlation between different scan policies in European countries and prenatal detection rate for different malformations and syndrome groups [Stoll et al., 2000, 2001; Barisic et al., 2001; Clementi and Stoll, 2001; Haeusler et al., 2002; Stoll and Clementi, 2003; Boyd et al., 2005]. This interesting subject could not be addressed in our study, due to the rarity of CdLS cases. "
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    ABSTRACT: Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present a population-based epidemiological study of the classical form of CdLS. The data were extracted from the database of European Surveillance of Congenital Anomalies (EUROCAT) database, a European network of birth defect registries which follow a standard methodology. Based on 23 years of epidemiologic monitoring (8,558,346 births in the 1980-2002 period), we found the prevalence of the classical form of CdLS to be 1.24/100,000 births or 1:81,000 births and estimated the overall CdLS prevalence at 1.6-2.2/100,000. Live born children accounted for 91.5% (97/106) of cases, fetal deaths 2.8% (3/106), and terminations of pregnancy following prenatal diagnosis 5.7% (6/106). The most frequent associated congenital malformations were limb defects (73.1%), congenital heart defects (45.6%), central nervous system malformations (40.2%), and cleft palate (21.7%). In the last 11 years, as much as 68% of cases with major malformations were not detected by routine prenatal US. Live born infants with CdLS have a high first week survival (91.4%). All patients were sporadic. Maternal and paternal age did not seem to be risk factors for CdLS. Almost 70% of patients, born after the 37th week of gestation, weighed <or=2,500 g. Low birth weight correlated with a more severe phenotype. Severe limb anomalies were significantly more often present in males.
    American Journal of Medical Genetics Part A 01/2008; 146A(1):51-9. DOI:10.1002/ajmg.a.32016 · 2.16 Impact Factor
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