Mol. Hum. Reprod. Advance Access originally published online on September 10, 2004
Molecular Human Reproduction 2004 10(11):839-846; doi:10.1093/molehr/gah108
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18 000 consecutive clinical samples
1Departament de Genètica Molecular, 2Departament de Citogenètica General Lab, 08021 Barcelona, 3Unitat de Biologia, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona E-08193, Bellaterra, Barcelona, Spain, 4Molecular Pathology Lab, Sant' Anna Hospital, 1026 Turin, 5Molecular Genetics and Cytogenetics Lab, Promea–Day Surgery, 1026 Turin, 6Department of Obstetrics and Gynaecology, University of Turin, Sant' Anna Hospital, 1026 Turin, Italy and 7The Galton Laboratory, University College London, London NWI 2HE, UK
8 To whom correspondence should be addressed at: General Lab, Genética Molecular, c/Amigo 12, 08021 Barcelona, Spain. Email: vc{at}general-lab.com
The quantitative fluorescent PCR (QF-PCR) assay, introduced during the last few years, allows prenatal diagnoses of common chromosome aneuploidies in a few hours after sampling. We report the first assessment of QF-PCR performed on a large cohort of 18 000 consecutive clinical specimens analysed in two different Centres. All samples were analysed by QF-PCR using several selected STR markers together with amelogenin and, occasionally, SRY for fetal sexing. Results were compared with those obtained by conventional cytogenetic analysis. In 17 129 tests, normal fetuses were detected by QF-PCR. No false positives were observed. All 732 cases of trisomy 21, 18, 13, triploidies, double trisomies as well as all but one fetuses with X and Y aneuploidies were correctly diagnosed. Chromosome mosaicism could also be suspected in several samples. In some cases of in vitro culture failures, QF-PCR was the only evidence of fetal X, Y, 21, 18 and 13 chromosome complement. QF-PCR proved to be efficient and reliable in detecting major numerical chromosome disorders. The main advantages of the molecular assay are its very low cost, speed and automation enabling a single operator to perform up to 40 assays per day. QF-PCR relieves anxiety of most parents within 24 h from sampling and accelerates therapeutic interventions in the case of an abnormal result. In countries where large scale conventional cytogenetics is hampered by its high cost and lack of technical expertise, QF-PCR may be used as the only prenatal diagnostic test.
Key words: aneuploidy/QF-PCR/rapid prenatal diagnosis/STR
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  A. J.A. Kooper, B. H.W. Faas, T. Feuth, J. W.T. Creemers, H. H. Zondervan, P. F. Boekkooi, R. W.P. Quartero, R. J.P. Rijnders, I. van der Burgt, A. G. van Kessel, et al. Detection of Chromosome Aneuploidies in Chorionic Villus Samples by Multiplex Ligation-Dependent Probe Amplification J. Mol. Diagn., January 1, 2009; 11(1): 17 - 24. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L Rickman, H Fiegler, C Shaw-Smith, R Nash, V Cirigliano, G Voglino, B L Ng, C Scott, J Whittaker, M Adinolfi, et al. Prenatal detection of unbalanced chromosomal rearrangements by array CGH J. Med. Genet., April 1, 2006; 43(4): 353 - 361. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K.Y. Tse, W.C. Leung, K.Y. Leung, C.P. Lee, L.K.L. Ng, E.T. Lau, V. Chan, and M.H.Y. Tang Full karyotyping, rapid aneuploidy diagnosis or both when invasive prenatal testing is performed for diagnosis of thalassaemia? Mol. Hum. Reprod., January 1, 2006; 12(1): 55 - 59. [Abstract] [Full Text] [PDF]
|
|