THE ULTRASOUND MARKERS OF CHROMSOMAL DISEASE - A RETROSPECTIVE STUDY

Over a 3 year period 37 pregnancies were complicated by a chromosomal abnormality. In the two cases of trisomy 13, holoprosencephaly, facial clefting, polydactyly and growth retardation were seen. In the seven cases of trisomy 18, abnormalities of the extremities, face and heart were common. Growth retardation and diaphragmatic hernia were also dem onstrated. In the 21 cases of Down's syndrome the main abnormalities w ere cardiac, duodenal atresia and subtle digital anomalies. The two fe tuses with triploidy showed a large hydropic placenta and holoprosence phaly respectively, and all five cases of Turner's syndrome demonstrat ed a cystic hygroma two of which were associated with hydrops. From th e antenatal scans major anomalies were detected in 18 fetuses, however , chromosomal disease was suspected in only 15 cases. This was in part owing to a high false negative rate for cardiac anomalies (14 cases) in both routine and detailed scans. Owing to the diversity of anomalie s present in chromosomal disease full assessment of the fetus is recom mended with particular attention to the fetal heart, face, hands and f eet. Specific anomalies are suggested for karyotype.