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胎儿性染色体畸形(47,XXX;47,XXY;47,XYY,45,X)是活婴中最常见一类染色体异常。在妊娠10～14周行产前筛查时其检出率为2‰～3‰。孕中期筛查显示:特纳氏综合征(45,X)母血清中游离绒毛膜促性腺激素β-亚单位(Fβ-hCG),抑制素-A及孕酮水平增高。通过对常染色体畸形孕妇血清Fβ-hCG和妊娠相关血浆蛋白-A(PAPP-A)以及超声波胎儿颈项部皮肤厚度(NT)的联合检测可筛查出90％唐氏
Fetal sex chromosome abnormalities (47, XXX; 47, XXY; 47, XYY, 45, X) are the most common class of chromosomal abnormalities in living infants. In prenatal screening 10 to 14 weeks of pregnancy the detection rate was 2 ‰ ~ 3 ‰. The second trimester screening showed increased levels of free chorionic gonadotropin beta-subunit (Fβ-hCG), inhibin-A and progesterone in Turen’s syndrome (45, X) maternal serum. Through the combined detection of serum Fβ-hCG and PAPP-A in pregnant women with autosomal abnormalities and ultrasonographic fetal skin thickness (NT), 90% of Down’s