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QF-PCR as a stand-alone test for prenatal samples: the first 2 years' experience in the London region.

Authors :
Hills, Alison
Donaghue, Celia
Waters, Jonathan
Waters, Katie
Sullivan, Caroline
Kulkarni, Abhijit
Docherty, Zoe
Mann, Kathy
Ogilvie, Caroline Mackie
Source :
Prenatal Diagnosis; Jun2010, Vol. 30 Issue 6, p509-517, 9p
Publication Year :
2010

Abstract

Objective To analyse the results of the first 2 years of a QF-PCR stand-alone testing strategy for the prenatal diagnosis of aneuploidy in the London region and to determine the advantages and disadvantages of this policy. Methods A review of the results of 9737 prenatal samples received for exclusion of chromosome abnormalities. All samples were subjected to QF-PCR testing for common aneuploidies but only samples fulfilling specific criteria subsequently had a full karyotype analysis. Results Of the 9737 samples received, 10.3% had a chromosome abnormality detected by QF-PCR testing. Of the 7284 samples received with no indication for karyotype analysis, 25 (0.3%) received a normal QF-PCR result but subsequently had an abnormal karyotype detected either prenatally as a privately funded test or postnatally. Of these samples, without subsequent abnormal ultrasound findings, five had a chromosome abnormality associated with a poor prognosis, representing 0.069% of samples referred for Down syndrome testing. Conclusion While back-up karyotyping is required for some samples, using QF-PCR as a stand-alone prenatal test for pregnancies without ultrasound abnormalities reduces costs, provides rapid delivery of results, and avoids ambiguous and uncertain karyotype results, reducing parental anxiety. Copyright © 2010 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
01973851
Volume :
30
Issue :
6
Database :
Complementary Index
Journal :
Prenatal Diagnosis
Publication Type :
Academic Journal
Accession number :
63643680
Full Text :
https://doi.org/10.1002/pd.2503