# Overcoming Recurrent Miscarriages in a 35-Year-Old Female With Thrombophilia

## TL;DR

This case report explores the causes of recurrent miscarriages in a 35-year-old woman with thrombophilia and genetic mutations.

## Contribution

The study provides a detailed analysis of genetic and immunological factors contributing to recurrent miscarriages in a specific patient.

## Key findings

- The patient has two copies of the MTHFR gene mutation and a PAI-1 gene variation.
- Elevated natural killer cell activity and embryotoxins were identified through blood tests and DNA analysis.

## Abstract

Thrombophilias, which include both hereditary and acquired illnesses, are a range of abnormalities that make persons more prone to developing thromboembolism. Thrombophilic conditions carry significant dangers during pregnancy, such as miscarriage in early pregnancy, intrauterine growth restriction, abruptio placenta, and preeclampsia. According to compiled statistics, an average of 15%-20% of pregnancies end in miscarriage. While the risk of miscarriage in a first pregnancy is 11%, this risk increases to between 13% and 17% in subsequent pregnancies, and after the third miscarriage, it reaches 38%.

This research article presents a detailed case report that focuses on a patient who has experienced three previous failed pregnancies. The patient's genetic analysis indicates that she has two copies of a mutated version of the methylenetetrahydrofolate reductase (MTHFR) gene (Ala222Val) and a variation in the plasminogen activator inhibitor 1 (PAI-1) gene known as 4G/5G. In addition, an evaluation of immunological characteristics revealed increased amounts of natural killer (NK) cells with enhanced activity, along with the identification of embryotoxins in a blood test that suppress embryotoxicity in a blood test, assisted by DNA isolation and real-time polymerase chain reaction (PCR) DNA analysis.