孕早期脱落的胎儿滋养细胞存在于妊娠妇女子宫颈管内,通过对它们的基因组分析可进行各种遗传性疾病的无创性产前诊断,这一发现激起人们的极大兴趣。利用各种方法收集到孕早期妇女宫颈管内的滋养细胞,进行荧光原位杂交或聚合酶链反应,可以检测胎儿性别、非整倍体异常、单基因遗传病等,从而达到早期、简便、无创性产前诊断的目的。 Fetal trophoblast cells shed in the first trimester are present in the cervix of pregnant women. The discovery of non-invasive prenatal diagnosis of various hereditary diseases through their genomic analysis has aroused people’s great interest. Using various methods to collect trophoblasts in the cervix of pregnant women in early pregnancy, fluorescence in situ hybridization or polymerase chain reaction can be used to detect fetal sex, aneuploidy abnormalities, single gene disease, so as to achieve early, simple, noninvasive The purpose of prenatal diagnosis.