engleski

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

In fetuses with abdominal wall defects prenatal deteciton of associated malformations and chromosomal abnormalities influence fetal prognosis, obstetric outcome and parental decisions concerning termination of pregnancies. We have analysed 252 cases of abdominal wall defects occurring among 593.799 pregnancies monitored over 2-year period by 19 European congenital malformation registries. 56.7% (143/252) of cases were omphalocele and 43.2% (109/252) were gastroschisis. The mean prevalence rate for omphalocele was 2.41 and for gastroschisis 1.84 per 10,000. Associated malformations were found in 57.3% of omphalocele compared with 22% of gastroschisis. Overall 25.9% of fetuses with omphalocele had an abnormal karyotype, 31.5% had a recognisable syndrome, association or an unspecified malformation pattern. Chromosomal abnormalities were identified in 2 cases of gastroschisis. Twenty two fetuses with gastroschisis had additional malformations that were not of chromsomal origin. Gastroschisis was associated with significantly younger maternal age than omphalocele. Prenatal ultrasound examinations were able to detect 78.3% of omphalocele and 80.7% of gastroschisis. In 39.2% (56/143) cases of omphalocele and in 29.4 (32/109) of gastroschisis parents opted for termiantion of pregnancy. 58.1% of terminations were performed in fetuses with multiple malformations. The overall survival rate was 40.6% for omphalocele and 77.1% for gastroschisis.

prenatal ultrasound; abdominal wall defects; chromosomal aberrations; congenital malformations

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