早孕期绒毛活检在产前诊断中的应用价值探讨

目的探讨早孕期经腹绒毛活检在产前诊断中的应用价值及其安全性。方法 150例孕63-98天的孕妇经腹抽取绒毛组织,剪碎后部分原位培养进行染色体核型分析;部分直接低渗制片进行荧光原位杂交（FISH）分析。结果150例患者中,培养及核型分析成功148例,成功率98.7%。FISH分析成功149例,成功率99.3%。共发现异常核型20例,包括染色体结构异常2例,常染色体三体6例,性染色体异常6例,染色体多态性5例,嵌合体1例。FISH与核型分析结果完全一致。除1例患者术后当天有少量阴道出血外,未发现明显的并发症。结论早孕期经腹绒毛活检是一种安全可靠的产前诊断技术,对常见的染色体病和遗传病可做到早发现、早处理,减少中晚期引产的痛苦,避免缺陷儿的出生。

The prenatal diagnosis value of chorionic villus sampling in early pregnancy

Objective: To investigate the prenatal diagnosis value and safety of chorionic villus sampling in early pregnancy.Methods: Villus specimens retrieved by Transabdominal chorionic villus sampling(TA-CVS) from 150 women pregnant 63-98 days.Villus were cut to small pieces,some of which were cultured for karyotype analysis and the other were used for FISH.Results: 148 of 150 specimens succeeded for karyotype analysis and the achievement ratio is 98.7%.FISH were succeeded in 149 specimens and the achievement ratio is 99.3%.There are 20 abnormal karyotype,including 2 structural chromosomal abnormality,6 somatic chromosome abnormality,6 sex chromosomal abnormality,1 chimera and 5 chromosomal polymorphism.The FISH and karyotype is concordante.Severe complication is not detected except 1 vaginal bleeding.Conclusion: TA-CVS in early pregnancy is a safe and reliable prenatal diagnostic technique.