Genetic_Causes_of_Miscarriage_ among_ womens

Infertility affects 50 million couples world wide (WHO) and prevalence is rising
25 to 30% of couples with Idiopathic infertility are likely to have a genetic etiology for their condition
Genetic causes may be due to
1. Cytogenetic abnormalities
2. Gene defects
3. Epigenetic alterations

1. Genetic Causes of Miscarriage Understanding the role of genetics in sporadic and recurrent pregnancy loss.

2. Introduction • Miscarriage: The loss of pregnancy before 20 weeks. • Genetic factors play a major role in early pregnancy loss. • Over 50% of first-trimester miscarriages involve chromosomal abnormalities.

3. Genetics: A Primary Contributor • Chromosomal abnormalities in >50% of miscarriages. • Types: - Aneuploidy (e.g., Trisomy 21, Monosomy X) - Structural rearrangements (translocations, deletions, insertions)

4. Impact of Parental Age • Maternal Age: - Increased risk with age >40 years due to genetic abnormalities. • Paternal Age: - Increased DNA mutations, affecting embryo viability.

5. Genetic Links to Recurrent Miscarriage • Inherited thrombophilia (e.g., Factor V Leiden mutation) • Acquired thrombophilia (e.g., Antiphospholipid Syndrome) • Thyroid disorders, PCOS, and prolactin imbalances.

6. Diagnosing Genetic Causes • Fetal genetic testing: - Karyotyping, Chromosomal Microarray Analysis (CMA), Next-Gen Sequencing. • Parental genetic testing: - Identifying inherited chromosomal rearrangements.

7. Eliminating Genetic Factors • No complete prevention of genetic anomalies. • Preimplantation Genetic Testing (PGT) can reduce risk in IVF cases.

8. Future Advances • Non-invasive prenatal testing (NIPT) developments. • AI-based genetic screening for embryo viability.

9. Ethical Considerations • Equity in access to genetic testing. • Ethical debates on embryo selection and reproductive rights.

10. Conclusion • Genetics plays a key role in pregnancy loss. • Advances in diagnosis and prevention improving outcomes. • Ethical and clinical challenges remain for future research.