42例孕妇孕早期绒毛组织细胞遗传学分析

目的评价早孕期B超引导下经腹绒毛取材组织样本的细胞遗传学分析在产前诊断中的应用价值。方法回顾分析2010年1月到2011年6月42例早孕期产前细胞遗传学诊断的病例资料。结果 42例取材时间9～13周,穿刺成功率100%,培养成功率为97.6%,平均培养时间为10天,发现异常核型4例。结论孕9周后行B超引导经腹绒毛取材是一项安全可行的早孕期介入性产前诊断方法。绒毛细胞长期培养法和染色体制备方法简单、技术稳定、结果可靠,可用于胎儿染色体疾病的产前诊断。

Analysis of fetal chromosomal karyotypes in 42 pregnant women during the first trimester of gestation

Objective: To evaluate the value of cytogenetic analysis in prenatal diagnosis by transabdominal chorionic villus sampling(TA-CVS) via the guidance of B-mode ultrasound in the first trimester of gestation.Methods: Fourty-two singleton pregnancies cases retrospective analysis from January 2010 to June 2011.Results: TA-CVS was performed in the 9~13th weeks of gestation and all attempts at sampling were successful diagnosis.The average culture time was 10 days.Of the 42 cases,chorionic villus was successfully cultured in 41 cases(97.6%),and abnormal embryo karyotypes were identified in 4 cases.Conclusions: TA-CVS appears safe and feasible and might to be offered in the prenatal diagnosis in the first trimester of gestation.The method of long time culture and chromosome preparation of villi is simple,stable and reliable.It is feasible to use these methods in the prenatal cytogenetic diagnose.