Comparison of QF-PCR and FISH for Aneuploidy Detection in Prenatal DiagnosisCorrespondence Address :
Sandip C Shah,
Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Kedar Complex, Ellis Bridge, Ahmedabad-380006, Gujarat, India.
Introduction: Among all chromosomes (46) in the human genome, particular significance has been given to chromosomes 13, 18, 21, X and Y. This is primarily because of aneuploidy in these chromosomes that result in viable pregnancies with congenital defects. As a result, standardised methods like Rapid Aneuploidy Test (RAT) for detection is the need of the hour in addition to Non-Invasive Prenatal Testing (NIPT) and Chromosomal Microarray (CMA).
Aim: To compare and analyse the diagnostic utility of Fluorescent In-Situ Hybridization (FISH) and Quantitative fluorescent Polymerase Chain Reaction (QF-PCR) in aneuploidy of detection.
Materials and Methods: In the present observational study, 120 pregnant women suspected of having fetal aneuploidies were subjected to amniocentesis and Chorionic Villus Samplling (CVS). Following DNA extraction, FISH and QF-PCR were carried out using pre-designed chromosomal markers and specific FISH probes for trisomy of 13, 18 and 21.
Results: Of 120, 5 prenatal samples showed Trisomy (T) 13, 18 and 21 chromosomes, amounting to a frequency of 4.2% (5/120). These results were concordant by both tests i.e FISH and QF-PCR trisomy 18 and 21 detected. Four amniotic fluid samples, two each respectively (4/108; 3.7%), and one Chorionic Villus Sampling (CVS) (1/12; 8.3%) were tested positive for trisomy of chromosome 13.
Conclusion: From the present study, it can be concluded that QF-PCR is a better technique for detection of aneuploidies. However, both these techniques, together called RAT of Invasive Prenatal Screening (IPS) should be performed for errorless results before termination of pregnancy (TOP).
Amniotic fluid, Chorionic villus sample, Rapid aneuploidy test, Trisomy of 13, 18 and 21
Sandip C Shah, Nidhi D Shah, Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Anil K Mehta, et al.. COMPARISON OF QF-PCR AND FISH FOR ANEUPLOIDY DETECTION IN PRENATAL DIAGNOSIS. Journal of Clinical and Diagnostic Research [serial online] 2019 August [cited: 2019 Aug 20 ]; 13:GC05-GC10. Available from
Date of Submission: Jun 14, 2018
Date of Peer Review: Aug 07, 2018
Date of Acceptance: Dec 29, 2018
Date of Publishing: Aug 01, 2019
FINANCIAL OR OTHER COMPETING INTERESTS: None.
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