PB0467 - Importance of inherited thrombophilia screening in recurrent pregnancy loss

Sunday, June 23, 2024

13:45 – 14:45 ICT

Room: Exhibition Hall

Presenting Author(s)

Ravi Ranjan, MSc PhD

Scientist
All India Institute of Medical Sciences
New Delhi, Delhi, India

Co-Author(s)

Amit Sharma, MSc PhD

Research Associate
Department of Hematology, All India Institute for Medical Sciences
GHAZIABAD, Uttar Pradesh, India
HP

HARERAM PANDEY

Post doctoral fellow
All India Institutes of Medical Science New Delhi
NEW DELHI, Delhi, India
RC

Richa Chauhan

Assistant Professor
All India Institute of Medical Sciences, New Delhi
New Delhi, Delhi, India
PK

Pradeep Kumar

Associate Professor
All India Institute of Medical Sciences, New Delhi
New Delhi, Delhi, India
GV

Ganesh Kumar Viswanathan

Associate Professor
All India Institute of Medical Sciences, New Delhi
New Delhi, Delhi, India
JD

Jasmita Dass, MD, DM

Associate Professor of Hematopathology
All India Institute of Medical Sciences, New Delhi
New Delhi, Delhi, India
MA

Mukul Aggarwal

Assistant Professor
All India Institute of Medical Sciences, New Delhi
Delhi, Delhi, India
RD

Rishi Dhawan

Associate Professor
All India Institute of Medical Sciences, New Delhi
New Delhi, Delhi, India
TS

Tulika Seth

Professor
All India Institute of Medical Sciences, New Delhi
New Delhi, Delhi, India
MM

Manoranjan Mahapatra

Professor and Head
All India institute of Medical Sciences, New Delhi
New Delhi, Delhi, India

Background: Recurrent reproductive failure is a global health issue affecting a significant number of women. Thrombophilias have been implicated as a possible cause. Inherited thrombophilias include a single nucleotide variant on factor V Leiden, prothrombin and methylene tetrahydrofolate reductase (MTHFR). Screening for thrombophilia in obstetric practice remains controversial because of the limited evidence of a true causal relationship with pregnancy complications and the lack of a proven effective intervention

Aims: The aim of this study was to evaluate the association between the following single nucleotide variants: factor V Leiden (c.1691G>A), the prothrombin gene (20210 G>A), MTHFR (C677T) and the reproductive failure in the Indian population.

Methods: The study was conducted in 545 patients with recurrent pregnancy loss, (RPL) (>2 miscarriages) who came to the coagulation laboratory for thrombophilia testing between 2019-2023 and 502 normal controls. The distribution of genotypes for the selected variants were determined by PCR-RFLP and by the real-time PCR method.

Results: A variant of the FV gene was found in 8.1% of patients with RPL women. A variant of the FII gene was not identified in patients with RPL. A variant of the MTHFR gene was found in 29.1% patients with RPL and 9% in controls. The frequency in the study groups differ significantly both for the F5 gene variant and MTHFR from that in the general population. No variant form of FII gene was found for predisposition to reproductive wastage.

Conclusion(s): With our study results we suggest conducting routine thrombophilia testing in women with recurrent miscarriages. The decision regarding testing should be made individually depending on additional factors indicating an increased risk of venous thromboembolism.