产前诊断病例母体细胞鉴定污染方法的建立及临床应用

摘要

Objective To test maternal cells contamination ( MCC) in samples of choriomic villus puncture, amniotic fluid puncture and cord blood puncture by establishing the test technique of MCC in interventional prenatal diagnosis of monogenic disease so as to reduce misdiagnosis rate.Methods Eight STR sites were selected to establish STR-PCR method and MCC concentration gradients.Totally 2 120 prenatal samples were detected to compare the incidence of MCC among choriomic villus puncture, amniotic fluid puncture and cord blood puncture samples.Results Totally 2 120 prenatal diagnosis samples were performed, and 1 452 samples were tested by STR-PCR method, including 1 022 amniotic fluid puncture samples, 229 cord blood samples and 201 choriomic villus samples.There were 19 cases with MCC detected by three methods, including 16 (1.6%) cases with amniotic fluid puncture, 2 (1.0%) cases with choriomic villus puncture and 1 (0.4%) case with cord blood puncture.Of 19 cases there were 2 cases with contamination over 25% and 18 cases with contamination over 10%.Conclusion In prenatal diagnosis samples, the incidence of MCC is relatively high in amniotic fluid puncture samples.MCC detection should be performed as a routine test in prenatal diagnosis of monogenic disease.%目的 建立单基因病介入性产前诊断的母体细胞污染鉴定技术,对绒毛穿刺、羊水穿刺及胎血穿刺的标本进行母体细胞污染的鉴定,以降低误诊率. 方法 选择8个短串联重复序列( STR)位点,建立短串联重复序列-聚合酶链式反应( STR-PCR)方法,并建立母体细胞污染的浓度梯度模型,对2 120例产前诊断标本进行检测,比较羊水穿刺、绒毛穿刺及脐血穿刺母体细胞污染的发生率. 结果 共施行约2 120例产前诊断标本,采用STR-PCR方法检测标本1 452例,其中羊水穿刺标本1 022例,脐血标本229例,绒毛标本201例. 3种方法检测到母体细胞污染病例共19例,其中羊水16例(1.6%),绒毛2例(1.0%),脐血1例(0.4%). 在19例检测到母血细胞污染的病例中,污染比例在25%以上的病例有2例,污染比例10%以上的有18例. 结论在产前诊断标本中,羊水穿刺母体细胞污染发生率较高. 在单基因遗传病产前诊断中,应常规进行母体细胞污染的检测.