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

Objectives To evaluate the current effectiveness of routine prenatal ultras ound screening in detecting gastroschisis and omphalocele in Europe. Design Data were collected by 19 congenital malformation registries from 11 European countries. The registries used the same epidemiological methodolo gy and registration system. The study period was 30 months (July 1st 1996-D ecember 31st 1998) and the total number of monitored pregnancies was 690 12 3. Results The sensitivity of antenatal ultrasound examination in detecting om phalocele was 75% (103/137). The mean gestational age at the first detectio n of an anomaly tvas 18 +/- 6.0 gestational weeks. The overall prenatal det ection rate for gastroschisis was 83 % (88/106) and the mean gestational ag e at diagnosis was 20 +/- 7.0 gestational weeks. Detection rates varied bet ween registries from 25 to 100% for omphalocele and from 18 to 100% for gas troschisis. Of the 137 cases of omphalocele less than half of the cases wer e live births (n = 56; 41 %). A high number of cases resulted in fetal deat hs (n = 30; 22%) and termination of pregnancy (n = 51; 37%). Of the 106 cas es of gastroschisis there were 62 (59%) live births, 13 (12%) ended with in trauterine fetal death and 31 (29%) had the pregnancies terminated. Conclusions There is significant regional variation in detection rates in E urope reflecting different policies, equipment and the operators' experienc e. A high proportion of abdominal wall defects is associated with concurren t malformations, syndromes or chromosomal abnormalities, stressing the need for the introduction of repeated detailed ultrasound examination as a stan dard procedure. There is still a relatively high rate of elective terminati on of pregnancies for both defects, even in isolated cases which generally have a good prognosis after surgical repair.