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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。
Objective To investigate the value of high-throughput sequencing for prenatal screening of fetal chromosomal abnormalities in prenatal testing of fetal aneuploidy in fetal twins. Methods A total of 200 pregnant women with twin pregnancies undergoing second trimester serological screening and karyotyping were enrolled in this study. Noninvasive prenatal diagnosis (NIPT) was performed between the 12th and 27th weeks of gestation and twin pregnancies with increased risk of chromosomal abnormalities Amniocentesis Chromosome karyotype analysis; did not prompt the risk of those who take umbilical cord blood during childbirth to check for chromosomal abnormalities; twin pregnancy miscarriage and other adverse pregnancy outcomes, fetus fetus DNA extraction and other high-throughput Sequencing and karyotype analysis. The results of NIPT were analyzed based on the results of fetal / neonatal karyotype analysis. Results A total of 200 pregnant women with twin pregnancy were enrolled in the second trimester of serological screening, 155 (77.5%, 155/200) and 45 (22.5%, 50/200) were not screened for their high risk of age. Serological screening in 155 cases of high-risk pregnant women in 13 cases (8.4%, 13/155), karyotyping and pregnancy outcomes were not found abnormalities. 200 cases of NIPT showed that 1 case of chromosomal abnormalities (0.5%, 1/200), chromosome karyotype analysis confirmed that one of the fetuses fetal karyotype 45, XO; 1 case 18 trisomy syndrome high risk (0.5% 1/200). There was no significant abnormality in the twin karyotype. One case of 21-trisomy (0.5%, 1/200) had a karyotype of 47, +21, and XN, and the other 197 karyotypes Analysis showed no obvious abnormalities. Conclusion High-throughput sequencing of fetal chromosomal abnormalities in prenatal screening of fetal twins fetal aneuploidy detection of a certain value.