Comparison of QF-PCR and FISH for Aneuploidy Detection in Prenatal Diagnosis
Published: August 1, 2019 | DOI: https://doi.org/10.7860/JCDR/2019/37547.13078
Sandip C Shah, Nidhi D Shah, Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Anil K Mehta, Bhavini S Shah, Mandava V Rao
1. Laboratory Director, Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India.
2. Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmadabad, Gujarat, India.
3. Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India.
4. Research Scientist, Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India.
5. Senior Scientist, Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India.
6. Visiting Scientist, Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India.
7. Head, Department of Microbiology, Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India.
8. Ex. Director, School of Sciences, Department of Zoology and Human Genetics GU and Molecular Genetics, Supratech Micropath Laboratory and Research Institute,
Ahmedabad, Gujarat, India.
Correspondence
Sandip C Shah,
Department of Molecular Genetics, Supratech Micropath Laboratory and Research Institute, Kedar Complex, Ellis Bridge, Ahmedabad-380006, Gujarat, India.
E-mail: supratech18@gmail.com
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).
[
FULL TEXT ] | [ PDF]