Fetal nuchal translucency ultrasound screening for Down syndrome during the first trimester of pregnancy

ABSTRACT

Down syndrome is the commonest cause of severe mental retardation in children. First trimester screening for nuchal translucency ultrasonographically was performed on 1552 women with singleton pregnancies at 10-14 weeks of gestation. The age of women ranged from 16-43 years. The results showed nine cases with increased thickness of nuchal skin >3 mm with a percentage of [0.58%] of total cases. Seven of these nine cases had abnormal chromosomes by karyotyping [77.78%]. Five cases from the seven cases with abnormal chromosomes had trisomy 21 [Down syndrome] which was [71.4%]. Two women of those who had increased nuchal translucency were euploid. Down syndrome is an age-related disorder. Combination of nuchal translucency ultrasound screening with serum screening is recommended for early diagnosis of Down syndrome in the first trimester of pregnancy