Evaluation of prenatal ultrasound 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: 3.14). 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.

  • [Show abstract] [Hide abstract]
    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
  • [Show abstract] [Hide abstract]
    ABSTRACT: Congenital heart disease is reported in 15–45% of omphalocele cases. Associated abnormalities of systemic veins have occasionally been reported in children and rarely documented in the fetus. We report a case series of interrupted inferior vena cava (Int-IVC) in association with omphalocele and review the literature.Methods From our fetal database we identified all cases of omphalocele referred for fetal echocardiography (FE) between 1997 and 2012. We reviewed pre and postnatal medical records and performed a literature search from 1975 to present to identify previous relevant publications.ResultsOf 9627 fetuses referred for FE, 34 had an omphalocele. Gestational age at FE was 17+ 6 to 26+ 4 weeks. Seven of the 34 fetuses were shown to have an Int-IVC with azygos continuation to a right-sided superior vena cava (SVC). The heart was structurally normal in all but one case. The abdominal wall defect was large and contained liver in all. There were three fetal demises and one neonatal death. Three cases were operated successfully. Since 1975, we identified 12 publications reporting omphalocele with systemic venous abnormalities. Abnormal IVC angulation may lead to surgical complications. Failure of IVC formation is likely to be a developmental rather than a situs abnormality. Int-IVC with a dilated azygos influences venous access and may predispose to venous thrombosis.Conclusion We have documented an association between large omphalocele and Int-IVC with azygos continuation to the SVC. In this small series, this did not have surgical implications. It will however, influence route of any future cardiac catheterisation and may have long-term implications.
    Early Human Development 11/2014; 91(1). DOI:10.1016/j.earlhumdev.2014.11.001 · 1.93 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Pulmonary hypoplasia has been described in cases of giant omphalocele (GO), although pulmonary hypertension (PH) has not been extensively studied in this disorder. In the present study, we describe rates and severity of PH in GO survivors who underwent standardized prenatal and postnatal care at our institution.MethodsA retrospective chart review was performed for all patients in our pulmonary hypoplasia program with a diagnosis of GO. Statistical significance was calculated using Fisher's exact test and Mann–Whitney test (p < 0.05).ResultsFifty-four patients with GO were studied, with PH diagnosed in twenty (37%). No significant differences in gender, gestational ages, birth weight, or Apgar scores were associated with PH. Patients diagnosed with PH were managed with interventions, including high frequency oscillatory ventilation, and nitric oxide. Nine patients required long-term pulmonary vasodilator therapy. PH was associated with increased length of hospital stay (p < 0.001), duration of mechanical ventilation (p = 0.008), and requirement for tracheostomy (p = 0.0032). Overall survival was high (94%), with significantly increased mortality in GO patients with PH (p = 0.0460). Prenatal imaging demonstrating herniation of the stomach into the defect was significantly associated with PH (p = 0.0322), with a positive predictive value of 52%.Conclusions In this series, PH was observed in 37% of GO patients. PH represents a significant complication of GO, and management of pulmonary dysfunction is a critical consideration in improving clinical outcomes in these patients.
    Journal of Pediatric Surgery 11/2014; 49(12). DOI:10.1016/j.jpedsurg.2014.09.016 · 1.31 Impact Factor

Full-text (2 Sources)

Available from
Oct 27, 2014