Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy.
OBJECTIVE: To examine the significance of fetal nuchal translucency at 10-14 weeks' gestation in the prediction of abnormal fetal karyotype. DESIGN: Prospective screening study. SETTING: The Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London. SUBJECTS: 827 fetuses undergoing first trimester karyotyping by amniocentesis or chorionic villus sampling. MAIN OUTCOME MEASURE: Incidence of chromosomal defects. RESULTS: The incidence of chromosomal defects was 3% (28 of 827 cases). In the 51 (6%) fetuses with nuchal translucency 3-8 mm thick the incidence of chromosomal defects was 35% (18 cases). In contrast, only 10 of the remaining 776 (1%) fetuses were chromosomally abnormal. CONCLUSION: Fetal nuchal translucency > or = 3 mm is a useful first trimester marker for fetal chromosomal abnormalities.