Incidence of placental mosaicism leading to discrepant results between QF-PCR and karyotyping in 22,825 chorionic villus samples

被引：13

作者：

Holgado, Elaine ^{[1
]}

Liddle, Stuart ^{[1
]}

Ballard, Terry ^{[2
]}

Levett, Lisa ^{[1
]}

机构：

[1] TDL Genet, Mol Genet, London, England

[2] TDL Genet, Cytogenet, London, England

来源：

PRENATAL DIAGNOSIS | 2011年 / 31卷 / 11期

关键词：

placental mosaicism; discrepancy; genetic counselling; rapid aneuploidy PCR; general cytogenetics; prenatal cytogenetics; fetal and placental pathology; RAPID PRENATAL-DIAGNOSIS; COMMON CHROMOSOME ANEUPLOIDIES; POLYMERASE-CHAIN-REACTION; CULTURED-CELLS; CVS; TRISOMIES; EXPERIENCE;

D O I：

10.1002/pd.2826

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objective To review the frequency and analyse the origin of completely discrepant results observed between QF-PCR and karyotyping in chorionic villus samples (CVS) as a result of placental mosaicism. Also, to assess QF-PCR results for biallelic or triallelic patterns and determine their significance. Methods Between May 2002 and December 2009, 22 825 CVS were received at TDL Genetics for processing by QF-PCR and karyotype. The QF-PCR and karyotype data were compared to determine the incidence of discrepant results. Results Of the 22 825 samples received, 22 779 (99.8%) gave concordant results between the PCR and karyotype, and 46 samples (0.2%) gave discordant results. Of these discrepant cases, 5 displayed triallelic peaks and 41 displayed biallelic peaks. All discordant results are due to the presence of placental mosaicism, a known limitation of using this sample type for prenatal diagnosis. Conclusion This retrospective study of placental mosaicism in CVS is the largest single centre study to date and provides a figure for the occurrence of completely discrepant results between QF-PCR and karyotype due to placental mosaicism. This study also demonstrates that the presence of triallelic peaks at QF-PCR is not sufficient to exclude the presence of placental mosaicism. Copyright. (C) 2011 John Wiley & Sons, Ltd.

引用

页码：1029 / 1038

页数：10

共 28 条

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