Pregnancy outcome and infant follow-up of fetuses with abnormally increased first trimester nuchal translucency

The numbers of fetuses with an abnormal increased first trimester nuchal translucency (NT) but a confirmed normal anatomy and karyotyping is relatively small and therefore a challenge for prenatal counselling. The aim of the current study was to assess the long-term pregnancy outcome and infancy prognosis of 78 fetuses with NT > 95th centile of the normal range for crown-rump length (CRL), The most common abnormalities in this group were aneuploidy, which affected 32 of the fetuses followed by four and three cases which were miscarried or had cardiac defects respectively. The remaining euploid fetuses with normal detailed scans were followed throughout their infancy (mean 24 months; range 12-36 months). Post-natally, except for a correctable case of ventricular septal defect and a case of posterior urethral valve, no other abnormalities were detected. After excluding all aneuploid cases and using the maternal age as a second variable, an uncomplicated pregnancy outcome could be anticipated in 17 cases (100%) when the maternal age was <30 years and NT between 95th centile and 5 mm, However, the chance of a normal outcome dropped to 50% in four cases with maternal age greater than or equal to 30 years and NT greater than or equal to 5 mm (Fisher's exact test; P = 0.02), These findings suggest that the long-term prognosis of the euploid fetuses with large NT (<5 mm) is reassuring in younger women.