孕早期产前筛查在染色体异常胎儿诊断中的应用

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摘要目的探讨孕早期产前筛查对染色体异常胎儿诊断的临床价值。方法运用时间分辨荧光免疫技术对5 612例单胎孕妇外周血妊娠游离人绒毛膜促性腺急速β亚基(β-hCG)含量及相关蛋白-A(PAPP-A)含量进行测定,同时结合超声测定的胎儿颈项透明膜厚度(NT)及体质量、孕妇年龄及孕周,用LifeCycle 3.0软件计算出胎儿患18-三体及21-三体风险率,高风险孕妇经孕妇羊水细胞或绒毛染色体核型分析确定。结果高风险发生率为4.1%;166例高风险孕妇经羊水细胞或者经绒毛染色体核型分析,发现异常核型28例,阳性符合率为16.9%。结论早期产前筛查能够早期筛查出染色体异常情况。

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	高原
	张玉虹
	梁登辉

关键词 ：孕早期, 产前筛查, 染色体异常, 产前诊断

Abstract：Objective To examine the clinical value of first trimester prenatal screening for the diagnosis of fetal abnormal chromosomes. Methods Birth outcomes of 5 612 singleton pregnancies that received free human chorionic gonadotropin β sub unit (β-HCG) and pregnancy-associated alpha plasma proteins (PAPP-A) testing and measurement of Chaldean translucency thickness (NT) by ultrasound scanning were analyzed. Risk of trisomy 18 and 21 was calculated with LifeCycle 3.0 software in combination of these indicators and body weight, maternal age and gestation. High-risk pregnant women were referred to prenatal diagnosis (amniocentesis or villus sampling). Results Of the 5 612 pregnant women, 230 were classified as high risk, with a proportion of 4.1%. Of the 166 women who received prenatal diagnosis, 28 were diagnosed as having abnormal prototype, with a proportion of 16.9%. Conclusion Early prenatal screening for high-risk pregnancies can help identify chromosomal abnormalities.

Key words： First trimester Prenatal screening Chromosomal abnormalities Fetal diagnosis

收稿日期: 2014-10-14

引用本文:

高原, 张玉虹, 梁登辉. 孕早期产前筛查在染色体异常胎儿诊断中的应用[J]. 中国生育健康杂志, 2015, 26(3): 240-242.
GAO Yuan, ZHANG Yuhong, LIANG Denghui. First trimester prenatal screening for chromosomal abnormalities. Chinese Journal of Reproductive Health, 2015, 26(3): 240-242.

链接本文:

http://cjrh.bjmu.edu.cn/CN/ 或 http://cjrh.bjmu.edu.cn/CN/Y2015/V26/I3/240