Prenatal Diagnosis of Common Aneuploidies Using Multiplex Quantitative Fluorescent Polymerase Chain Reaction

Vol. 19, No. 6, 2004

Free Abstract Article (References) Article (PDF 367 KB)

Paper

Prenatal Diagnosis of Common Aneuploidies Using Multiplex Quantitative Fluorescent Polymerase Chain Reaction
S. El Mouatassim^a, M. Becker^a, S. Kuzio^b, C. Ronsin^c, S. Gil^d, M. Nouchy^a, L. Druard^c, F. Forestier^a

^aLaboratoire Marcel Mérieux, Service de Génétique Moléculaire, Lyon,
^bLaboratoire Ruffié, Service de Génétique Moléculaire, Bordeaux,
^cLaboratoire Claude Lévy, Paris, et
^dFaculté de Pharmacie, Chatenay Malabry, France

Address of Corresponding Author

Fetal Diagn Ther 2004;19:496-503 (DOI: 10.1159/000080162)

Key Words

Prenatal diagnosis
Quantitative fluorescent polymerase chain reaction
Trisomy
Patau's syndrome
Edward's syndrome
Down syndrome

Abstract

Objective: Prenatal diagnosis of foetal trisomies is usually performed by cytogenetic analysis. This requires lengthy laboratory procedures and it is expensive. Here, we report a retrospective study of quantitative fluorescent polymerase chain reaction (QF-PCR) for prenatal detection of trisomies 13, 18 and 21. Methods: QF-PCR was performed on a total of 447 amniotic fluids blindly analysed without any knowledge of the cytogenetic results and 43 samples with known karyotype. All samples were tested with at least 4 small tandem repeat markers specific for each chromosome 13, 18 or 21. Results: QF-PCR results on amniotic fluid were consistent with conventional cytogenetic data. QF-PCR detected 5 cases of trisomy 21, 2 cases of trisomy 18, 1 case of trisomy 13 and 1 case with Klinefelter's syndrome. Conclusions: QF-PCR has proved to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling and thus reduces parental anxiety.

Author Contacts

S. El Mouatassim
Laboratoire Marcel Mérieux, Service de Génétique Moléculaire
19, avenue Tony Garnier, FR-7322 Lyon Cedex 07 (France)
Tel. +33 472 807 327, Fax +33 472 801 008
E-Mail smouatassim@lab-merieux.com

Article Information

Received: July 7, 2003
Accepted after revision: October 2, 2003
Number of Print Pages : 8
Number of Figures : 4, Number of Tables : 1, Number of References : 27

Medline Abstract (ID 15539874)

Download Citation

Cited In

For non-native English speakers and international authors who would like assistance with their writing before submission, we suggest American Journal Experts for their research paper editing service.