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目的:利用母外周血中胎儿有核红细胞结合血清三联筛查及三维超声,建立快速无创性产前诊断唐氏综合征的有效模式。方法:早、中期孕妇共670例,采取血清三联筛查结合三维超声和病史选取唐氏高危孕妇,抽取高危孕妇的外周血,流式细胞术富集母血中的胎儿有核红细胞(Fetal Nucleated Red Blood Cells,FNRBCs);次日进行多重引物原位杂交(muti-primed in situ labeling,multi-PRINS)检测胎儿细胞21号染色体与Y染色体。结果:通过血清三联筛查和三维超声结合病史筛选出高危孕妇24例,高危孕妇在两日内即可确诊,24例中诊断23例染色体正常胎儿,包括男胎12例、女胎11例;诊断1例男性唐氏综合征胎儿。24例标本检测结果和实际胎儿核型符合。结论:血清三联筛查、超声检查结合病史筛选出高危孕妇,然后利用母血中胎儿有核红细胞进行多重引物原位杂交检测细胞染色体,可作为快速、无创性产前诊断唐氏综合征的有效模式,并可为其他胎儿染色体基因异常或者宫内感染的无创性产前诊断提供参考。
OBJECTIVE: To establish a rapid and noninvasive prenatal diagnosis of Down’s syndrome by using fetal nucleated erythrocytes combined with serum triple screening and three-dimensional ultrasonography in peripheral blood. Methods: A total of 670 preterm and midterm pregnant women were enrolled in this study. Serum triple screening combined with three-dimensional ultrasonography and medical history was used to select the pregnant women with high risk of Down’s syndrome. Peripheral blood samples from pregnant women were collected. Flow cytometry was used to enrich Fetal Nucleated Red Blood Cells (FNRBCs). The next day, multiple-primer in situ hybridization (multi-PRINS) was used to detect fetal chromosome 21 and Y chromosome. Results: Twenty-four high-risk pregnant women were screened by serum triple screening and three-dimensional ultrasonography. High-risk pregnant women were diagnosed within two days. Twenty-four of 24 patients were diagnosed as chromosomal normal fetuses, including 12 male fetuses and 11 female fetuses. 1 male Down Syndrome fetus. Twenty-four specimens were consistent with the actual fetal karyotype. Conclusion: Serum triple screening and ultrasonography combined with medical history screening out high-risk pregnant women, and then using fetal nasal erythrocytes in maternal blood to detect multiple chromosomes by multiplex primer in situ hybridization can be used as a rapid and non-invasive prenatal diagnosis of Down Syndrome Model, and for other fetal chromosomal abnormalities or noninvasive prenatal diagnosis of intrauterine infection provide a reference.