Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries
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.
Full-textDOI: · Available from: Ingeborg Barisic, Oct 27, 2014
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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 · 1.31 Impact Factor
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DESCRIPTION: Infants with abdominal wall defects (AWD) are at risk of prolonged hospitalization, feeding intolerance, infections and mortality. Our objective was to determine outcomes of AWD infants admitted to 10 Australian neonatal intensive care units had changed over 18 years. In conclusion, compared to exomphalos infants, gastroschisis infants required significantly longer hospitalizations and parenteral nutrition with higher rates of infection. Despite better survival than exomphalos infants, mortality rates for gastroschisis infants appear to have increased over time.
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ABSTRACT: Abdominal wall defects are a complex group of anomalies, and many are incorrectly diagnosed. Evaluation of the defect relative to the umbilical cord insertion site is fundamentally important in differentiating among the various malformations. The two most common abdominal wall defects are gastroschisis, in which the defect is on the right side of the normally inserting cord and free-floating bowel loops are present, and omphalocele, in which the cord inserts on a membrane-covered midline defect. Omphalocele may also form a portion of a more complex defect that may remain undiagnosed without thorough evaluation. In cloacal exstrophy, the defect extends inferiorly and the bowel loops extrude between the two bladder halves. In pentalogy of Cantrell, the defect extends superiorly and is typically associated with ectopia cordis. Bladder exstrophy is a lower abdominal defect in which the hallmark finding is absence of a fluid-filled bladder. The cord insertion site is normal to low but does not form part of the defect. Both body stalk anomaly and abdominoschisis due to amniotic bands cause severe malformations, often involving extrusion of solid organs and the bowel. Although these two entities have many overlapping features, body stalk anomaly may be recognized on the basis of absence of a free-floating umbilical cord. With use of an algorithmic approach beginning with discovery of the location of the defect, a more precise diagnosis can be determined that may directly affect pre- and postnatal management decisions. (©)RSNA, 2015.Radiographics 03/2015; 35(2):636-649. DOI:10.1148/rg.352140104 · 2.73 Impact Factor