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目的探讨羊水细胞染色体核型分析在妊娠中期产前诊断中胎儿染色体病的必要性和安全性。方法对妊娠19～23周的符合产前指征的孕妇在B超引导下行羊膜腔穿刺术,抽取羊水15～20ml,对羊水中胎儿脱落细胞进行培养、制片、显带,并分析染色体核型。结果在1848例孕妇的羊水染色体检查结果中,异常核型62例,胎儿染色体异常率为3.35%,其中唐氏高风险919例,异常29例,异常检出率3.16%,18-三体高风险128,异常4例,异常检出率3.15%,NTD高风险22例,异常1例,异常检出率4.54%,高龄736例,异常24例,异常检出率3.26%,不良孕产史40例,异常1例,异常检出率2.50%,超声检查淋巴水囊瘤4例,异常3例,异常检出率75.00%。结论在目前技术阶段,羊水细胞染色体培养和核型分析可显著减少染色体病患儿的出生,在产前诊断中有着不可替代的作用。
Objective To investigate the necessity and safety of amniotic fluid cell karyotype analysis in prenatal diagnosis of fetal chromosome disease. Methods Pregnant women with prenatal indications of 19-23 weeks of gestation underwent amniocentesis guided by B-mode ultrasonography and 15-20ml of amniotic fluid were drawn. Fetal exfoliated cells in amniotic fluid were cultured, type. Results In the 1848 cases of amniotic fluid chromosome examination results, 62 cases of abnormal karyotype, fetal chromosomal abnormalities was 3.35%, of which 919 cases of Down’s high risk, abnormalities in 29 cases, the abnormal detection rate of 3.16%, 18-trisomy high risk 128, abnormal 4 cases, abnormal detection rate of 3.15%, 22 cases of high risk of NTD, 1 case of abnormality, abnormal detection rate of 4.54%, 736 cases of advanced age, abnormality in 24 cases, abnormal detection rate of 3.26%, 40 Cases, 1 case of abnormality, abnormal detection rate of 2.50%, ultrasound examination of lymphocyst tumor in 4 cases, 3 cases of abnormal, abnormal detection rate of 75.00%. Conclusion In the current technical phase, amniotic fluid cell chromosome culture and karyotype analysis can significantly reduce the birth of children with chromosomal disorders and play an irreplaceable role in prenatal diagnosis.