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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。
Objective To investigate the value and safety of transabdominal villi biopsy in prenatal diagnosis of early pregnancy. Methods 150 pregnant women with 63-98 days of pregnancy were selected by abdomen to collect villus tissue. After in-situ culture, some karyotypes were obtained by in situ culture. Some of them were directly analyzed by fluorescence in situ hybridization (FISH). Results Among the 150 patients, 148 cases were successfully cultured and karyotype analyzed with a success rate of 98.7%. FISH analysis was successful in 149 cases, the success rate of 99.3%. Twenty cases of abnormal karyotype were found, including 2 cases of chromosomal abnormalities, 6 cases of autosomal trisomy, 6 cases of sex chromosome abnormalities, 5 cases of chromosome polymorphisms and 1 case of chimerism. FISH and karyotype analysis results are exactly the same. Except one patient had a small amount of vaginal bleeding on the day after operation, no obvious complication was found. Conclusion Transabdominal villi biopsy in early pregnancy is a safe and reliable method of prenatal diagnosis. Early detection and early treatment of common chromosomal and genetic diseases can be achieved, which can reduce the pain of late induction and avoid the birth of defective children.