Fetal outcome in nuchal translucency with emphasis on normal fetal karyotype.

The aim of this study was to evaluate fetal outcome in fetuses with a nuchal translucency thickness of 3 mm or more, with emphasis on those with a normal karyotype. Between 1991 and 1994, a total of 104 pregnancies with suspected ultrasound abnormalities were referred to our prenatal unit for a fetal anomaly scan before 16 weeks of gestation. Of these 104 pregnancies, 54 were referred because of a nuchal translucency thickness of 3 mm or more. Data on these 54 pregnancies will be presented. Karyotyping was performed in all cases. An abnormal karyotype was found in 26/54 (48 per cent) pregnancies. A normal karyotype was established in the remaining 28 pregnancies. In this subset, five associated structural anomalies were detected at the first anomaly scan (9-15 weeks). Two pregnancies were terminated because of isolated nuchal translucency. In four of the continuing 21 pregnancies, additional structural anomalies were detected only at the second anomaly scan (16-20 weeks). Two of these were terminated because of bilateral renal dysplasia and a combination of exomphalos and ectopia cordis. Finally, 19 pregnancies progressed uneventfully and resulted in spontaneous delivery at a median gestational age of 40 weeks. A statistically significant difference in mean nuchal translucency thickness was found between cases with and without associated structural anomalies. This relationship indicates a more pronounced nuchal translucency thickness to be associated with a higher incidence of additional structural anomalies and, as a result, a poorer fetal outcome.