Evaluation of the prenatal diagnosis of limb reduction deficiencies

Ultrasound scans in the mid-trimester of pregnancy are now a routine part o f antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of limb reduction deficiencies (L RD) by routine ultrasonographic examination of the fetus. All LRDs suspecte d prenatally and all LRDs (including chromosome anomalies) confirmed at bir th were identified from 20 Congenital Malformation Registers from the follo wing 12 European countries: Austria, Croatia, Denmark, France, Germany, Ita ly, Lithuania, Spain, Switzerland, The Netherlands. UK and Ukrainia. These registries are following the same methodology. During the study period (199 6-98) there were 709 030 births, and 7758 cases with congenital malformatio ns including LRDs. If more than one LRD was present the case was coded as c omplex LRD; 250 cases of LRDs with 63 (25.2%) termination of pregnancies we re identified including 138 cases with isolated LRD, 112 with associated ma lformations, 16 with chromosomal anomalies and 38 non chromosomal recognize d syndromes. The prenatal detection rate of isolated LRD was 24.6% (34 out of 138 cases) compared with 49.1% for associated malformations (55 out of 1 12, p < 0.01). The prenatal detection of isolated terminal transverse LRD w as 22.7% (22 out of 97), 50% (3 out of 6) for proximal intercalary LRD, 8.3 % (1 out of 12) for longitudinal LRD and 0 for split hand/foot; for multipl i-malformed children with LRD those percentages were 46.1% (30 out of 65), 66.6% (6 out of 9), 57.1% (8 out of 14) and 0 (0 out of 2), respectively. T he prenatal detection rate of LRDs varied in relation with the ultrasound s creening policies from 20.0% to 64.0% in countries with at least one routin e fetal scan. Copyright (C) 2000 John Wiley & Sons, Ltd.