engleski

Prenatal ultrasound detection of abdominal wall defects: associated malformations, chromosomal abnormalities and perinatal outcome

OBJECTIVES: Evaluation of the current effectiveness of routine prenatal ultrasound screening in detecting abdominal wall defects and associated conditions in unselected populations across Europe. Analysis of the impact of associated malformations, syndromes and chromosomal abnormalities on pregnancy outcome and parental decisions concerning termination of pregnancy (TOP). METHODS: 19 Congenital Malformation Registries from 11 European countries collected data on the family history, mother, fetus/infant, results of prenatal scans and outcome of pregnancy. The study period was 30 months (01/07/96 to 31/12/98) and the total number of monitored pregnancies 690,123. RESULTS: - From the total of 243 abdominal wall defects, associated malformations were found in 56.2 % (77/137) of omphalocele and 22.6 % (24/106) of gastroschisis. Overall 25% (34/137) of fetuses with omphalocele had an abnormal karyotype, 31.4% (43/137) had a recognisable syndrome, association, or an unspecified pattern of malformations. Of the 106 gastroschisis, 15 (14%) had additional anomalies. Only 2 (2%) cases could be attributed to a chromosomal and 7 (7%) to a recognisable non-chromosomal syndrome. Prenatal ultrasound exammination detected 75% (103/137) of omphalocele and 83% (88/106) of gastrochisis. The detection rate was higher and the mean gestational age at detection lower in multiple affected fetuses. In 51 (37%) cases with omphalocele and in 31 (29%) with gastroschisis parents opted for TOP. Proportion of TOP was higher in multiple affected fetuses compared to isolated cases. The overall survival rate was 41% (56) for omphalocele and 73% (62) for gastroschisis. The number of live-births was higher in isolated cases compared to syndromic, chromosomal and multiple cases. CONCLUSIONS: A high proportion of abdominal wall defects is associated with concurrent malformations and/or chromosomal abnormalities. Associated conditions clearly influence perinatal outcome. Therefore, a detailed search for other structural malformations and karyotyping should be performed whenever an abdominal wall defect is identified.

gastroschisis; omphalocele; prenatal diagnosis; ultrasound; congenital malformations; chromosomal aberrations

nije evidentirano