Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR)

被引：53

作者：

Ogilvie, CM ^{[1
]}

Donaghue, C ^{[1
]}

Fox, SP ^{[1
]}

Docherty, Z ^{[1
]}

Mann, K ^{[1
]}

机构：

[1] Guys & St Thomas Hosp, Dept Cytogenet, London, England

来源：

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY | 2005年 / 53卷 / 03期

关键词：

prenatal diagnosis; QF-PCR; aneuploidy; Down syndrome; rapid testing; sex chromosome aneuploidy; Turner syndrome;

D O I：

10.1369/jhc.4B6409.2005

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Molecular cytogenetic aneuploidy testing for pregnant women at increased risk of chromosome abnormality leads to rapid reassurance for those with normal results and earlier decisions on pregnancy management in the case of abnormality. We tested 9080 prenatal samples using a one-tube QF-PCR test for trisomies 13, 18, and 21; the abnormality rate was 5.9%. There were no misdiagnoses for non-mosaic trisomy. A sex chromosome multiplex was developed that detects structural sex chromosome abnormalities as well as aneuploidies. The sex chromosome test was targeted at pregnancies (272) with specific abnormalities suggestive of Turner syndrome; 13.2% showed 45,X, confirmed by follow-up analysis.

引用

页码：285 / 288

页数：4

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