非选择妊娠妇女人群中唐氏综合征的筛选

• 作 者: 任芸芸 李笑天
• 机 构: 复旦大学附属妇产科医院,复旦大学附属妇产科医院 (200011),(200011)
• 出 处: 国外医学(计划生育/生殖健康分册)
• 发表日期: 2007年05期
• 关键词: 唐氏综合征 血清学筛查 超声遗传图 胎儿细胞学检查

唐氏综合征是人类最常见的染色体畸形,约1/2～1/3的胎儿无超声可识别的异常。唐氏综合征的出生前诊断一直是产前诊断的一个难点。目前临床上常用的筛选方法包括:血清学筛查(妊娠早、中期)、超声筛查,根据筛查结果计算出胎儿唐氏综合征的危险度,根据危险度的高低决定是否行羊膜腔穿刺进行胎儿染色体检查。非侵入性产前诊断尚处于实验室阶段。

Down’s syndrome is the most common chromosomal abnormality in humans, and about one in two to one third of the fetuses have no ultrasound-recognizable abnormalities. Prenatal diagnosis of Down Syndrome has been a difficult prenatal diagnosis. Currently screening methods commonly used clinically include: serological screening (early pregnancy, mid-pregnancy), ultrasound screening, according to the screening results to calculate the risk of fetal Down Syndrome, according to the degree of risk to decide whether the line of amniocentesis Fetal chromosome examination. Non-invasive prenatal diagnosis is still in the laboratory stage.