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

• Published in: Prenatal diagnosis 2010-06, Vol.30 (6), p.509-517
• Main Authors: Hills, Alison, Donaghue, Celia, Waters, Jonathan, Waters, Katie, Sullivan, Caroline, Kulkarni, Abhijit, Docherty, Zoe, Mann, Kathy, Ogilvie, Caroline Mackie
• Format: Article
• Language: English
• Subjects: Algorithms; Aneuploidy; Biological and medical sciences; Blood Specimen Collection - standards; Chromosome Disorders - diagnosis; Chromosome Disorders - epidemiology; Chromosome Disorders - genetics; Delivery. Postpartum. Lactation; False Negative Reactions; Female; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Gynecology. Andrology. Obstetrics; Humans; karyotyping; Karyotyping - methods; London - epidemiology; Medical sciences; Molecular and cellular biology; nuchal translucency; Polymerase Chain Reaction - methods; Polymerase Chain Reaction - standards; Polymerase Chain Reaction - statistics & numerical data; Pregnancy; prenatal diagnosis; Prenatal Diagnosis - methods; Prenatal Diagnosis - statistics & numerical data; QF-PCR; Research Design; Retrospective Studies
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.2503

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.