Detection of sex chromosome abnormalities by nuchal translucency screening at 10-14 weeks

At 10-14 weeks of gestation more than 80 per cent of fetuses affected by trisomy 21 can be detected by a screening programme based on a combination of maternal age and fetal nuchal translucency thickness (NT). The screen positive group in such a programme also identifies fetuses with sex chromosome abnormalities. In this ongoing multicentre screening study, involving 61,972 singleton pregnancies, 53 cases of sex chromosome abnormalities were identified. The fetal NT was above the 95th centile in 87.9 per cent of the 33 cases with 45,XO, and in 40 per cent of the 20 cases with 47,XXX, 47,XYY or 47,XXX. However, it was estimated that at 12 weeks of gestation our population would contain 42 cases with 45,XO and 104 cases with 47,XXY, 47,XYY or 47,XXX. Since the rate of intra-uterine lethality, between 12 and 40 weeks of gestation, is about 65 per cent for 45,XO and four per cent for 47,XXY, 47,XYY or 47,XXX, the respective number of livebirths with these chromosomal abnormalities would have been 15 and 100, respectively, without prenatal diagnosis. Assuming that all intra-uterine deaths are from those with increased NT, screening for trisomy 21 by maternal age and fetal NT would have identified only 20 per cent of potential livebirths in the 45,XO group and nine per cent of those with 47,XXY, 47,XYY or 47,XXX.