Rapid Prenatal Diagnosis of Common Aneuploidies in Amniotic Fluid Using Quantitative Fluorescent Polymerase Chain Reaction

Vol. 66, No. 2, 2008

Free Abstract Article (References) Article (PDF 198 KB)

Original Article

Rapid Prenatal Diagnosis of Common Aneuploidies in Amniotic Fluid Using Quantitative Fluorescent Polymerase Chain Reaction
Huseyin Onay^a, Timur Ugurlu^d, Ayca Aykut^b, Sacide Pehlivan^{a, c}, Murat Inal^d, Sivekar Tinar^d, Cihangir Ozkinay^a, Ferda Ozkinay^{a, b}

^aDepartment of Medical Genetics, Faculty of Medicine,
^bDepartment of Pediatrics, Faculty of Medicine, and
^cDepartment of Biology, Faculty of Science, Ege University, and
^dEge Maternity and Women's Health Teaching Hospital, Izmir, Turkey

Address of Corresponding Author

Gynecol Obstet Invest 2008;66:104-110 (DOI: 10.1159/000128598)

Key Words

Prenatal diagnosis
Quantitative fluorescent polymerase chain reaction
Amniotic fluid
Aneuploidy

Abstract

Background/Aims: Quantitative fluorescent polymerase chain reaction (QF-PCR) is a successful prenatal diagnostic method which has been regularly used for the diagnosis of common chromosomal abnormalities in recent years. This method provides diagnosis of common aneuploidies in a few hours after sampling with a high throughput, very low error rates and low cost. Methods: In this study, 576 amniotic fluid samples were analyzed for trisomies 13, 18, and 21 and sex chromosome aneuploidies using different commercial QF-PCR kits (ChromoQuant version 1, Aneufast, ChromoQuant version 2). Test results were compared with those obtained by conventional cytogenetic analyses. Results: Nine cases of trisomy 21 (1.6%), 1 case of trisomy 13 (0.17%), 3 cases of trisomy 18 (0.52%), 1 case of Turner syndrome (0.17%), 2 cases of Klinefelter's syndrome (0.34%), 2 cases of triploidy (0.34%) and 1 case of XXX (0.17%) were detected by QF-PCR. The results obtained by QF-PCR were consistent with the results of cytogenetic studies (except for 2 samples which had structural chromosomal abnormalities which could not be detected by QF-PCR). Conclusion: The QF-PCR method is an appropriate choice for rapid aneuploidy testing in our as well as in other populations.

Author Contacts

Huseyin Onay, MD, PhD
Ege Universitesi T inodot p Fakultesi
Tibbi Genetik Anabilim Dali
TR-35100 Bornova/Izmir (Turkey)
Tel. +90 232 390 4917, Fax +90 232 390 3971, E-Mail huseyin.onay@ege.edu.tr

Article Information

Received: September 24, 2007
Accepted after revision: November 26, 2007
Published online: April 29, 2008
Number of Print Pages : 7
Number of Figures : 1, Number of Tables : 6, Number of References : 10

Medline Abstract (ID 18446039)

Download Citation

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