唐氏综合征高危孕妇血浆中游离胎儿DNA的Y染色体微缺失筛查

目的 利用孕妇血浆中游离胎儿DNA在孕早期进行Y染色体微缺失筛查,诊断男性胎儿无精子症因子(AZF)缺失情况。方法 留取2013年6月～2014年8月参加产前检测的16～34孕周唐氏综合征筛查高危孕妇的外周血标本89例,提取出全血基因组DNA后利用Y染色体微缺失检测试剂盒检测AZF微缺失。结果 86例孕妇妊娠至胎儿出生,其中男胎孕妇45例,女胎孕妇41例。妊娠女性胎儿的孕妇血浆DNA仅扩增出ZFX/ZFY对照基因,而妊娠男性胎儿的孕妇血浆DNA同时扩增出SRY,ZFX/ZFY对照基因,且有3例样本检测出AZF基因微缺失。结论 通过提取孕妇血浆中游离胎儿DNA能够检测出胎儿是否伴有AZF基因微缺失,从而提前预测胎儿今后罹患生精障碍的风险。

Screening the Y Chromosome Microdeletion of Free Fetal DNAin Plasma in Maternal with High-risk Down's Syndrome

Objective Using maternal free fetal DNA to screen Y chromosome microdeletion in early pregnancy and to diagnose the AZF deletions in male fetus.Methods 89 cases peripheral blood samples were collected from high-risk Down's syndrome pregnant women in 16th～34th week of gestation in June 2013 to August 2014,and the whole blood genomic DNA was extracted to detect the AZF gene by using Y chromosome microdeletions detection Kit.Results 45 cases male fetus and 41 cases female fetus were born in 86 cases pregnant women.There were only ZFX/ZFY control genes in female fetal DNA,while the SRY,ZFX/ZFY genes could be amplified from male fetal DNA,and AZF microdeletion were detected in three male fetal DNA.Conclusion Extracting the DNA in maternal plasma will be ableto detect free fetal DNA and then identify whether the fetus is AZF gene deletions,thus predicting the potential risk of azoospermia for fetus in the future.