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DOI: 10.1369/jhc.4B6409.2005
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Journal of Histochemistry and Cytochemistry
Volume 53 (3): 285-288, 2005
Copyright ©The Histochemical Society, Inc.

BRIEF REPORT

Rapid Prenatal Diagnosis of Aneuploidy Using Quantitative Fluorescence-PCR (QF-PCR)

Caroline Mackie Ogilvie, Celia Donaghue, Susan P. Fox, Zoe Docherty and Kathy Mann

Cytogenetics Department, Guy's & St Thomas' Hospital Trust, London, UK

Correspondence to: Dr. Caroline Mackie Ogilvie, Cytogenetics Department, 5th Floor, Guy's Tower, St Thomas Street, London SE1 9RT, UK. E-mail: caroline.ogilvie{at}genetics.kcl.ac.uk

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. (J Histochem Cytochem 53:285–288, 2005)

Key Words: prenatal diagnosis • QF-PCR • aneuploidy • Down syndrome • rapid testing • sex chromosome aneuploidy • Turner syndrome


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