Molecular Human Reproduction, Vol. 7, No. 10, 1001-1006,
October 2001
© 2001 European Society of Human Reproduction and Embryology
Reproductive genetics |
Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies
1 Departament de Genética Molecular, General Lab, Barcelona 08021, 2 Unitat de Biologia, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, E-08193 Bellaterra, Barcelona, 3 Departament de Genética, General Lab, Barcelona and 4 Secció de Genética, Hospital de Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain 5 To whom correspondence should be addressed at: Genética Molecular, General Lab, c/Amigo 12, 08021 Barcelona, Spain. E-mail: v_cirigliano{at}hotmail.com
Abstract
The clinical application of quantitative fluorescent polymerase chain reaction (QF-PCR) for rapid prenatal detection of chromosome aneuploidies has been limited in most studies to the detection of autosomal trisomies. Recently it has been shown that a newly identified highly polymorphic marker, termed X22, which maps to the Xq/Yq pseudoautosomal region of the sex chromosomes, used together with the X-linked short tandem repeat (STR) HPRT, allows the accurate detection of gonosome aneuploidies. We have developed a rapid assay, which includes these STR markers together with a sequence of the amelogenin region of the sex chromosomes and selected highly polymorphic autosomal STR. Two more X chromosome markers, as yet not used in previous QF-PCR applications, were also included in the assay. The molecular test was then used in a clinical trial on 551 uncultured amniotic fluid samples, allowing the assessment of copy number for chromosomes X, Y and 21 in 100% of cases. In the course of this study, two fetuses with Turner's syndrome and one with Klinefelter's syndrome were identified along with 17 autosomal trisomies. The assay proved to be so efficient and reliable that in most aneuploidy cases, in which ultrasound findings were in agreement with the molecular result, therapeutical interventions were possible without waiting for the result of cytogenetic analysis.
aneuploidy/prenatal diagnosis/QF-PCR/STR
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