CAJ | 학술논문

目的评估国内现有的有创性产前诊断技术中母体细胞污染(MCC)的发生率及其对产前诊断结果的影响.方法采用单中心大样本量研究方案,在2011年10月至2012年1月期间采用PowerPlex 16系统对519例孕中期羊水标本、57例孕早期绒毛标本及对应的576例孕妇外周血标本进行短串联重复序列(STR)分型,根据分型结果判断是否存在MCC及MCC的程度；结合核型分析结果和分子遗传学诊断结果分析MCC对产前诊断的影响.结果 3.1％(16/519)未经培养的羊水标本和1.3％(7/519)培养后的羊水标本存在MCC;5％(3/57)未经培养的绒毛标本存在MCC.MCC对于正常核型女性胎儿的核型分析无影响,但是增加了男性胎儿被误判为两性嵌合体,或者异常核型胎儿被误判为异常/正常核型嵌合体的风险.MCC对不同分子遗传学诊断方法的影响不同,对于基于PCR的基因定性分析,10％ MCC即可造成错误的分析结果；对于定量分析,10％及以上的MCC即对分子遗传学诊断结果产生干扰,30％ MCC可导致错误的诊断结果.结论 MCC可能影响产前诊断结果,核型为嵌合体的产前诊断羊水标本和可疑MCC的绒毛标本均应当进行MCC排除实验；MCC对于分子遗传学诊断结果的影响更为明显,建议产前分子遗传学诊断应尽可能常规进行胎儿组织标本的MCC排除实验.
목적 평고국내현유적유창성산전진단기술중모체세포오염(MCC)적발생솔급기대산전진단결과적영향.방법 채용단중심대양본량연구방안,재2011년10월지2012년1월기간채용PowerPlex 16계통대519례잉중기양수표본、57례잉조기융모표본급대응적576례잉부외주혈표본진행단천련중복서렬(STR)분형,근거분형결과판단시부존재MCC급MCC적정도；결합핵형분석결과화분자유전학진단결과분석MCC대산전진단적영향.결과 3.1％(16/519)미경배양적양수표본화1.3％(7/519)배양후적양수표본존재MCC;5％(3/57)미경배양적융모표본존재MCC.MCC대우정상핵형녀성태인적핵형분석무영향,단시증가료남성태인피오판위량성감합체,혹자이상핵형태인피오판위이상/정상핵형감합체적풍험.MCC대불동분자유전학진단방법적영향불동,대우기우PCR적기인정성분석,10％ MCC즉가조성착오적분석결과；대우정량분석,10％급이상적MCC즉대분자유전학진단결과산생간우,30％ MCC가도치착오적진단결과.결론 MCC가능영향산전진단결과,핵형위감합체적산전진단양수표본화가의MCC적융모표본균응당진행MCC배제실험；MCC대우분자유전학진단결과적영향경위명현,건의산전분자유전학진단응진가능상규진행태인조직표본적MCC배제실험.
Objective To assess the frequency and significance of maternal cell contamination (MCC)in the invasive prenatal diagnosis,and to analysis the MCC effect on prenatal diagnosis results.Methods Totally 519 amniotic fluid samples from second trimester pregnancy,57 chorionic villus samples from first trimester pregnancy,and 576 blood samples from corresponded pregnant women were collected and genotyped by Promega PowerPlex 16 system.MCC was determined according to the genotyping results.Karyotypic and molecular diagnosis results were contrasted between MCC and non-MCC specimen of the same fetal.Results MCC presented in 3.1％(16/519)uncultured amniotic fluid,1.3％(7/519)cultured amniotic fluid and 5％(3/57)villi specimens.In the study of fetal karyotype,MCC had no significant effect on normal female fetus;but for male fetus and abnormal female fetus,there were risk of erroneous results of mosaics.As to molecular diagnosis,MCC resulted in more complex effects for the different diagnostic methods.And 10％ MCC had led to misdiagnosis.Conclusions For the prenatal cytogenetic tests,MCC should be excluded when there were mosaicism karyotype results or suspicious MCC of chorionic villi samples.The effects of MCC had more seriously impact on prenatal molecular testing,which suggesting the recommend regular identity test for MCC should bc carried out.