唐氏综合征的产前筛查进展

Progress in Prenatal Screening for Down′s Syndrome

唐氏综合征是临床上最常见的一种染色体畸形。临床上常用的血清学筛查指标有甲胎蛋白、绒毛膜促性腺激素、游离雌三醇、妊娠相关蛋白A、抑制素A、妊娠特异性β1糖蛋白,胎儿有核红细胞、游离胎儿DNA及RNA。目前常采用血清学联合筛查。超声测量颈部透明层及胎儿鼻骨也可作为筛查手段。如何提高筛查的灵敏度及探寻更准确的方法是当前研究的热点。

Down′s syndrome is the most common clinical abnormalities of a chromosome.Commonly used clinical indicators were serum alpha fetoprotein screening,human chorionic gonadotrophin,free estriol,pregnancy associated plasma protein A,inhibin A,pregnancy-specific β1 glycoprotein,fetal nucleated red blood cells and free fetal DNA and RNA.The current serological screening often combined.Ultrasonic measurement of fetal nuchal translucency and nasal bone can be used as screening tools.The current research focus on how to improve the screening sensitivity and to explore more accurate way.