engleski

Evaluation of prenatal ultrasound detection of fetal abdominal wall defects: European multicentric study

Omphalocele and gastroschisis are now frequently diagnosed prenatally using ultrasound scanning and prenatal maternal serum á – fetoprotein (AFP) screening. Timely prenatal diagnosis allows careful search for associated anomalies or chromosomal aberrations that can influence fetal prognosis, obstetric outcome and parental decisions concerning termination of pregnancies. Although mid trimester prenatal ultrasound screening for fetal anomalies has become a standard procedure of prenatal care, the impact of routine obstetric ultrasound on the perinatal outcome in low-risk pregnancies is still under debate. We have evaluated the effectiveness of routine prenatal ultrasound screening in detection of abdominal wall defects occurring among pregnancies monitored from July 1st 1996 to December 31st 1998 in 19 European Congenital Malformation Registries. From the total of 690,123 pregnancies there were 243 cases of abdominal wall defects, 137 cases of omphalocele and 106 cases of gastroschisis giving the mean prevalence rates of 2,72 and 1,54 per 10 000 respectively. Of the total of 137 omphalocele there were 59 (43%) cases with isolated omphalocele, 34 (25%) with chromosomal aberration, 14 (10%) with a recognisable syndrome, and 30 (22%) were associated to other major malformations. Less than a half of cases were live births (57 or 42%). A high number of cases resulted in fetal deaths (30 or 22%) and termination of pregnancy (50 or 36%). Proportion of TOP for isolated omphalocele (8 or 14%) was significantly lower compared to those that are part of a recognizable syndrome (7 or 50%), chromosomal aberration (23 or 68%), or non- identified multiple malformation syndrome (12 or 40%). Of the total of 106 gastroschisis 83 (78%) were considered to be isolated, 14 (13%) to have additional anomalies, while only 2 could be attributed to a chromosomal and 7 to the recognisable non-chromosomal syndrome. There were 61 (58%) live births, 13 (12%) ended with intrauterine fetal death, and 32 (30 %) had the pregnancies terminated. In pregnancies with gastroschisis TOP was performed in 30% of pregnancies. Of 83 cases of isolated gastroschisis 17% resulted in termination of pregnancy. Only one of the 14 cases associated to another major malformation and no cases of syndromic of chromosomal origin were carried out to term. Antenatal routine ultrasound screening was performed in 132 (96%) of pregnancies with omphalocele and in 101 (95%) cases of gastroschisis. Overall 101 (74 %) fetuses with omphalocele and 95% with gastroschisis were diagnosed before birth. Mean gestational age at first detection of anomaly was 18 weeks (6-40) for omphalocele and 19 weeks for gastroschisis. There is significant regional variation in detection rates between different European regions reflecting policies, equipment and operators, experience.

abdominal wall defects; gastroschisis; omphalocele; prenatal ultrasound diagnosis

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