早孕期经腹绒毛穿刺104例临床分析

CLINICAL ANALYSIS OF TRANSABDOMINAL CHORIONIC VILLUS SAMPLING IN 104 CASES WITH FIRST TRIMESTER

目的探讨经腹绒毛穿刺(TA-CVS)在产前诊断中的应用价值及安全性。方法对104例孕11～14周需行产前诊断的孕妇施行超声引导下经腹绒毛活检,抽取绒毛并行染色体及地贫基因分析。结果取材成功率97.1%,自然流产0例,宫内感染0例,未出现肢端缺损。共发现染色体异常核型10例,包括染色体结构异常1例,常染色体三体3例,性染色体异常3例,染色体多态性2例,嵌合体1例。发现地中海贫血46例,其中重型地中海贫血10例。结论妊娠11周后经腹绒毛活检是一项安全可行的介入性产前诊断方法,可用于早孕期产前诊断。

Objective To evaluate the feasibility and safety of prenatal diagnosis by Transabdominal chorion- ic villus sampling （TA - CVS） via the guidance of Ultrasound in first trimester of gestation. Methods Villus speci- mens received by Transabdominal chorionic villus sampling （TA - CVS） from 104 women pregnant 11 -14 weeks. Results The success rate at the first attempt was 97.1%. Post CVS spontaneous fetal loss rate was 0. The intrauter- ine infection was O. There are 10 abnormal karyotype, including 1 structural chromosomal abnormality,3 somatic chromosome abnormality, 3 sex chromosomal abnormality, 1 chimera and 2 chromosomal polymorphism. And we find l0 major Thalassemia among 46 Thalassemia. Conclusion TA - CVS appears safe and feasible and can be offered in the prenatal diagnosis of thalassemia in first trimester of gestation.