985例早孕期线毛活检样本的遗传学结果分析

目的探讨早孕期绒毛活检(chorionic villus sampling,CVS)术在产前诊断中的应用价值及安全性。方法回顾性分析2012年1月至2017年12月在北京大学第一医院妇产科行CVS术取材,并通过染色体核型分析和荧光原位杂交(fluorescence in situ hybridization,FISH)进行产前诊断的985例的病历资料,对细胞培养成功率、产前诊断指征、细胞遗传学诊断结果和CVS手术并发症等进行描述性分析。结果985例中,970例(98.48%)行FISH检测,893例(90.66%)进行了染色体核型分析,878例(89.14%)同时行核型分析与FISH检测。CVS术取材后,细胞培养成功率为96.64%(863/893)。超声异常是最常见的产前诊断指征,占42.64%(420/985)。本研究共检出各类染色体异常181例,检出率为18.38%(181/985)。其中,超声异常为指征的检出率最高,为31.90%(134/420),其次为不良孕产史11.83%(20/169)]和高龄8.21%(11/134)]。此外,有16例可能因胎盘嵌合和13例可能因母体污染而引起的FISH检测与核型分析结果不符的病例。CVS术后4周内,6例(0.61%,6/985)孕妇发生胎停育(其中4例存在染色体数目异常);其余979例(99.39%)未见近、远期手术并发症。结论早孕期CVS术是一种安全可靠的介入性诊断方式,对于早孕期超声异常等特定指征人群可以更早获得产前诊断结果,增强产前诊断的针对性,提高效率,但也不可忽视胎盘嵌合和母体污染对诊断结果可能造成的影响。

First-trimester chorionic villus sampling:genetic analysis of 985 cases

Objective To investigate the value and safety of first-trimester chorionic villus sampling(CVS)in prenatal diagnosis.Methods This study retrospectively analyzed the clinical data of 985 cases undergoing CVS and prenatal diagnosis with karyotyping and fluorescence in situ hybridization(FISH)in the Department of Obstetrics and Gynecology of Peking University First Hospital from January 2012 to December 2017.The success rate of cell culture,indications for prenatal diagnosis,karyotyping results,and complications of CVS were described.Results Among the 985 cases,970(98.48%)underwent FISH and 893(90.66%)received karyotyping,and 878(89.14%)accepted both.After CVS,the success rate of cell culture was 96.64%(863/893).Abnormal ultrasonographic findings(42.64%,420/985)were the most common indications for prenatal diagnosis.In this study,181 cases of chromosomal abnormalities were detected,including numerical and structural abnormalities,accounting for 18.38%of all 985 cases.Those cases with abnormal ultrasonographic images had the highest detection rate of chromosomal abnormalities(31.90%,134/420),followed by those with adverse pregnant history(11.83%,20/169)and advanced maternal age(8.21%,11/134).In addition,there was a discrepancy between karyotyping and FISH results,which might due to 16 cases of placental mosaicism and 13 cases of maternal cell contamination(MCC).Embryonic demises were reported in six cases(0.61%,6/985),including four with chromosomal numerical abnormalities within four weeks after CVS.No other short-or long-term postoperative complications were found in the rest 979 cases(99.39%).Conclusions CVS in the first trimester is a safe and reliable invasive method for prenatal diagnosis,which can help to obtain an earlier diagnosis in a certain population such as those with abnormal ultrasonographic findings,thus improve the pertinence and efficiency of prenatal diagnosis.However,the potential influences of placental mosaicism and MCC on the diagnostic results should not be ignored.