Screening for fetal aneuploidies and fetal cardiac abnormalities by nuchal translucency thickness measurement at 10-14 weeks of gestation as part of routine antenatal care in an unselected population

Objectives To evaluate first trimester pregnancy screening for fetal aneuploidy and congenital heart defects by maternal age and nuchal translucency measurement and screening for fetal aneuploidies and congenital heart defects by ultrasound in an unselected population. Design A prospective study. Setting Fetal medicine unit, St George's Hospital, London. Sample 4523 consecutive viable fetuses at 10–14 weeks with a crown–rump length between 38 and 80 mm were scanned transabdominally (93%) or transvaginally (7%). Methods Screening was performed by calculating the background risk from maternal age, gestational age and obstetric history, which was then adjusted with the nuchal translucency measurement in relation to crown–rump length (adjusted risk). Main outcome measures Measurements of crown–rump length and nuchal translucency thickness. An adjusted risk of > 1:270 was considered as a positive screening test. Pregnancy outcome was obtained through karyotyping, outcome questionnaires and examination of the newborn infants. Results Mean maternal age was 29.4 years and mean gestational age 12.2 weeks. Screening was positive in 230/4523 fetuses (5.1%), when the adjusted risk (mean 1:2649) was > 1:270. Fetal karyotype was abnormal in 23 (0.51%) cases, including twelve with trisomy 21, five trisomy 18, one trisomy 13, one trisomy 10, one monosomy X and two triploidies. For a false positive rate of 4.7%, the sensitivity of this test was 78% in detecting any fetal aneuploidy. Only one out of nine major congenital heart defects in this population was found within the 110 euploid fetuses with increased nuchal translucency thickness (> 2.5 mm). Conclusion Screening for fetal aneuploidy by maternal age and nuchal translucency measurement can be effective in an unselected population. However, our results do not support its effectiveness in the detection of cardiac abnormalities.