Comparison of QF-PCR and FISH for Aneuploidy Detection in Prenatal Diagnosis
Journal Title: Journal of Clinical and Diagnostic Research - Year 2019, Vol 13, Issue 8
Abstract
ABSTRACT 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).
Authors and Affiliations
Sandip C Shah, Nidhi D Shah, Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Anil K Mehta, Bhavavini S Shah, Mandava V Rao
Keywords
Related Articles
- EP ID EP638965
- DOI 10.7860/JCDR/2019/37547.13078
- Views 102
- Downloads 0
Fatal Myocardial Infarction: A Retrospective Autopsy Study
Abstract Introduction: Myocardial infarction is one of the complications of Coronary Artery Disease (CAD). Recent study has shown that the incidence of acute myocardial infarction is on the increase in developing countr...
Orthodontic Therapy for Paediatric Cancer Survivors: A Review
The paper aims at reviewing the possibilities of orthodontic therapy for paediatric cancer survivors. It is important to understand the fundamental disease, it’s treatment protocols, effects on growing skeleton, dental d...
Content Validation of Total Knee Replacement Rehabilitation Protocol in Indian Population
Introduction: Total knee replacement (TKR) surgery has become the most successful surgery for patients with severe debilitating arthritis. The guidelines for rehabilitation progression should be tailored respecting the t...
A Rare Case of Paranasal Sinus Schwannoma with Intracranial Extension
ABSTRACT Paranasal sinus schwannomas are uncommon and account for less than 4% of head and neck schwannomas. Intracranial extension and aggressive behaviour are very rarely observed in these tumours leading to misdiagnos...
An Unusual Case of Giant ArterioVenous Malformation of Anterior Abdominal Wall
Arterio-Venous Malformations (AVMs) are high flow vascular anomalies, commonly seen in head, neck and extremities. AVMs represent a direct connection between the arterial and the venous systems. They are congenital, ofte...