Completely discrepant results between prenatal QF-PCR rapid aneuploidy testing and cultured cell karyotyping obtained from CVS: lessons from UK audit and re-audit of 22,221 cases-Reference-Cited by-同舟云学术

Completely discrepant results between prenatal QF-PCR rapid aneuploidy testing and cultured cell karyotyping obtained from CVS: lessons from UK audit and re-audit of 22,221 cases

Published:2012-06 Issue: Volume: Page:1-3
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Hamilton Susan J.¹,Waters Jonathan J.²

Affiliation:

1. West Midlands Regional Genetics Laboratory; Birmingham Women's NHS Foundation Trust; Birmingham; B15 2TG; UK

2. NE Thames Regional Genetics Service Laboratories; Gt Ormond St Hospital for Children NHS Foundation Trust; London; WC1N 3BH; UK

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference17 articles.

1. Rapid molecular method for prenatal diagnosis of Down syndrome;Pertl;Lancet,1994

2. Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis;Mann;Lancet,2001

3. QF-PCR as a stand-alone test for prenatal samples: the first 2 years' experience in the London region;Hills;Prenat Diagn,2010

4. Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karytoyped cultured cells in a first trimester CVS;Waters;Prenat Diagn,2006

5. Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of Trisomy 18 detected in CVS;Allen;Prenat Diagn,2006

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4. The impact of national guidance for anomaly screening and invasive testing: unintended consequences;Archives of Disease in Childhood - Fetal and Neonatal Edition;2013-07-05