Assessment of QF-PCR as the first approach in prenatal diagnosis

J Mol Diagn. 2010 Nov;12(6):828-34. doi: 10.2353/jmoldx.2010.090224. Epub 2010 Oct 1.

Abstract

Quantitative fluorescent PCR (QF-PCR) has been used by many laboratories for prenatal diagnosis of the most common aneuploidies. QF-PCR is rapid, cost-effective, and suitable for automation and can detect most abnormalities diagnosed by conventional karyotyping. Whether QF-PCR should be used alone in most of the samples and in which karyotyping should also be offered is currently a topic of debate. We evaluated and compared the results obtained from 7679 prenatal samples in which conventional karyotype and QF-PCR had been performed, including 1243 chorionic villi and 6436 amniotic fluid samples. Concordant QF-PCR and karyotype results were obtained in 98.75% of the samples. An abnormal karyotype associated with adverse clinical outcome undetected by QF-PCR was found in 0.05% of samples. Therefore, QF-PCR can be used alone in a large number of samples studied in a prenatal laboratory, thereby reducing both the workload in cytogenetic laboratories and parental anxiety when awaiting results.

Publication types

  • Evaluation Study

MeSH terms

  • Amniotic Fluid / chemistry
  • Chorionic Villi / chemistry
  • Chromosome Aberrations
  • Female
  • Genetic Markers
  • Humans
  • Karyotyping / methods
  • Polymerase Chain Reaction / methods*
  • Pregnancy
  • Prenatal Diagnosis / methods*

Substances

  • Genetic Markers