高通量测序胎儿染色体非整倍体筛查方法在双胎妊娠中的应用

发布时间：2018-03-07 04:32

本文选题：高通量测序　切入点：非侵入产前诊断　出处：《中国妇产科临床杂志》2017年06期 　论文类型：期刊论文

【摘要】：目的探讨高通量测序用于胎儿染色体异常产前筛查在双胎妊娠胎儿非整倍体染色体异常产前检测中的应用价值。方法选择妊娠15~18周接受孕中期血清学筛查和核型分析的200例双胎孕妇,妊娠12~27周行非侵入产前诊断(NIPT),对于染色体异常风险度升高者行双胎妊娠羊膜腔穿刺染色体核型分析;未提示风险度升高者,分娩时留取脐血检查有无染色体异常;双胎妊娠出现流产等不良妊娠结局者,留取胎儿组织提取DNA等进行高通量测序及染色体核型分析。以胎儿/新生儿染色体核型分析结果为金标准,分析NIPT结果。结果200例双胎妊娠患者,行孕中期血清学筛查155例(77.5%,155/200),45例(22.5%,50/200)因年龄高风险未行血清学筛查。155例血清学筛查中,高风险孕妇13例(8.4%,13/155),核型分析和妊娠结局均未发现异常。200例NIPT显示,1例性染色体异常(0.5%,1/200),染色体核型分析证实双胎之一胎儿核型为45,XO;1例18-三体综合征高风险(0.5%,1/200),双胎核型未见明显异常;1例21-三体高风险(0.5%,1/200),双胎之一核型为47,+21,XN;余197例染色体核型分析未提示明显异常。结论高通量测序胎儿染色体异常产前筛查在双胎胎儿染色体非整倍体的检测有一定的应用价值。
[Abstract]:Objective to evaluate the value of high throughput sequencing in prenatal screening of fetal chromosomal abnormalities in twin pregnancy. Methods 1518 weeks of gestation were selected to receive serological screening and karyotype of fetal aneuploidy. Analysis of 200 cases of twin pregnant women, Non-invasive prenatal diagnosis was performed at 1227 weeks of pregnancy, and chromosome karyotype analysis of amniocentesis in twin pregnancy was performed for those with higher risk of chromosomal abnormalities. In the case of adverse pregnancy outcome such as abortion in twin pregnancy, DNA was extracted from fetal tissues for high-throughput sequencing and chromosome karyotype analysis. The results of fetal / newborn chromosome karyotype analysis were taken as the gold standard. Results the results of NIPT were analyzed in 200 cases of twin pregnancy and 155 cases of second trimester serological screening were performed in 15.5 / 200 cases (45 cases with 55 / 200). Serological screening was not performed in 155 cases because of the high risk of age, and no serological screening was performed in 155 cases because of the high risk of age. 13 cases of high-risk pregnant women with 8.4% 13 / 155%, no abnormal karyotype analysis and pregnancy outcome. 200 cases of NIPT showed 1 case of sexual chromosome abnormality 0.5% / 2000.The karyotype analysis confirmed that one of the twins was 45% XO, 1 case of high risk of 18-trisomy syndrome 0.51 / 200, and 1 case of twin nucleus was found to have a high risk of 0.51 / 200, and a case of twin nucleus was found to have a high risk of 0.51R / 2000.The chromosome karyotype analysis confirmed that one of the twins had a fetal karyotype of 45% Trisome. No obvious abnormality was found in 1 case with 21-trisomy high risk of 0. 5%, one of the twins was 47, 21, XN, and the other 197 cases were not shown to be significantly abnormal. Conclusion High throughput sequencing of fetal chromosomal abnormalities in prenatal screening in twin fetus chromosomes is not significant. The detection of euploid has certain application value.
【作者单位】：北京大学人民医院妇产科;
【分类号】：R714.23;R714.5

【相似文献】