荧光定量PCR技术在母体细胞污染鉴定和快速产前诊断中的应用

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[中图分类号]R173 [文献标识码]A [文章编号]1673—5293（2026）01—0031—08

Application of QF-PCR in maternal cell contamination identification and prenatal diagnosis

ZHAO Yanling，DAI Lihua，ZHUFeng，WANG Hongkun （Prenatal Diagnosis Center，Shanghai General Hospital Affiliated to Shanghai Jiao Tong University SchoolofMedicine，Shanghai2Ol62O，China）

[Abstract]ObjectiveToevaluateclinicalaplicationvalueofquantitativefluorescentpolymerasechainreaction（QF-PCR）for maternal cellcontamination（MCC）identificationandrapid prenatal diagnosisofcommonchromosomalaneuploidies.Methods MCCconcentration-gradientdetectionmodels wereestablished toanalyzecharacteristicsofshorttandemrepeats（STR）profilesat diferent proportionsof MCC.Theincidenceof MCCin577amnioticfluidsampleswasretrospectivelyanalyzed，anddetection eficacyofQF-PCRforchromosomalaneuploidies（13，18，21，XandY）was evaluatedthroughcomparativeanalysiswithmniotic karyotyping results. Results In 10% or above MCC models，obviously“contamination peak” characteristics appeared the STR profiles.MCC was identified in 4 of 577 amniotic fluid samples （0.69%，4/577） .Totally，60 chromosomal aneuploidieswere identifiedoutbyQF-PCR，including24casesoftrisomy21，11casesoftrisomy183casesof monosomyX（XO），4csesoftriple X（XXXsyndrome，6 casesof Klinefelter syndrome（XXY）and6cases of XYY syndrome，aswellas6aditional cases of suggestiveploidyabnormalities.69chromosomalaneuploidieswereidentfiedoutbyamniotickaryotypinganalysis.Comparative analysisofresults by QF-PCR with thosebyamniotic karyotyping revealedfullconcordance for52casesof non-mosaic aneuploidies，and the discrepanciesincluded：twocasesof Y-chromosome structuralrearrngements were misclassifiedas XYYby QF-PCR;for six sex chromosome mosaicism cases，QF-PCR suggested ploidy anomalies only but failed to resolve mosaic composition；andnineundetectedcasesof balancedrearrangementsanddeletions/duplicationsatributedtoQF-PCR kit limitations.Conclusion QF-PCR can effectively identify out MCCat ≥10% thresholds and exerts such advantages as rapid diagosisandhighsensitivityforcommonchromosomalaneuploidies.However，limitationspersistindetectingchromosomal mosaicismcomposition，balancedtranslocationsandcopynumber variations（CNVs）.So，QF-PCRcould beused asanadjunctive screening tool for prenatal aneuploidy diagnosis in clinic.

[Keywords]ateralcellontaminationqantitatiefluorescntplymerasehaieaction;rnataldiagosis;hromosoalaneu ploidy

近年来，基于聚合酶链式反应（polymerasechainreaction，PCR）检测的分子遗传学诊断技术在产前诊断领域的应用日益普及。（剩余8692字）