Journal of Womens Health, Issues and Care ISSN: 2325-9795

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Research Article, J Womens Health Issues Care Vol: 4 Issue: 6

Comparison of Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) and Conventional Cytogenetic Analysis in Detection of Fetal Anueploidies

Wu Yi1, Wang Yan-Lin1, Liu Chun-Min1, Han Xu2, Hu Wen-Jing2 and Cheng Wei-Wei1*
1Prenatal Diagnosis Center, the International Peace Maternity & Child Health Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200030, China
2Department of reproductive genetics, the International Peace Maternity & Child Health Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200030, China
Corresponding author : Cheng Wei-Wei
Prenatal Diagnosis Center, the International Peace Maternity & Child Health Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200030, China
Tel: +86 13901669376
E-mail: [email protected]
Received: June 21, 2015 Accepted: November 18, 2015 Published: November 20, 2015
Citation: Yi W, Yan-Lin W, Chun-Min L, Xu H, Wen-Jing H, et al (2015) Comparison of Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) and Conventional Cytogenetic Analysis in Detection of Fetal Anueploidies. J Womens Health, Issues Care 4:6. doi:10.4172/2325-9795.1000209

Abstract

Objective: Cytogenetic analysis, the gold standard in the diagnosis of fetal aneuploidies, requires the time-consuming generation of primary cell cultures, which limits the success rate of this technique. In this study, we examined the efficiency and accuracy of quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid detection of fetal aneuploidy. Methods: Sixty pregnant women at high risk for fetal aneuploidies were recruited to the study group. Indications for invasive prenatal diagnosis were: advanced maternal age, positive biochemical screening, abnormal ultrasound findings and previous history of fetal abnormalities. All samples were tested by both QF-PCR and traditional karyotyping. Results: Twenty-six samples showed normal patterns. All normal samples were detected by QF-PCR without false positive or false negative results. All trisomies, including trisomies 21, 13, and 18, (n = 25, 2 and 2, respectively) were successfully detected by QF-PCR. Four Turner cases were identified by karyotyping, while only two were detected by QF-PCR. QF-PCR failed to accurately diagnose a balanced translocation. Conclusions: QF-PCR is a rapid and reliable method for prenatal diagnosis of the common chromosomal aneuploidies, especially trisomies 13, 18 and 21. This rapid and inexpensive technique may be a suitable prenatal screen in developing countries. Synopsis: QF-PCR is a rapid and reliable method for prenatal diagnosis of the common chromosomal aneuploidies. It may replace fluorescence in-situ hybridization as rapid prenatal screen.

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