Seyed Mehrab Safdari: Prenatal Diagnosis in Hemophilia – Two Decades of Progress and Remaining Challenges
Seyed Mehrab Safdari, Molecular Laboratory Technician at Tehran University of Medical Sciences, shared a post on LinkedIn about a recent article he and his colleagues co-authored, published in Thrombosis Journal, adding:
“Prenatal Diagnosis in Hemophilia: Two Decades of Progress and Remaining Challenges
Advances in molecular diagnostics have significantly improved prenatal diagnosis of hemophilia A and B. However, important challenges remain in translating these advances into clinical practice.
In our systematic review, we analyzed 24 studies involving 969 pregnancies over two decades (2005–2025), exploring the evolution of prenatal diagnostic approaches.
Key findings:
- Invasive procedures remain predominant: Amniocentesis and chorionic villus sampling were the most frequently reported methods.
- Non-invasive approaches show promise: Cell-free DNA testing was reported in only 5 of the 24 studies, primarily for fetal sex determination.
- Important gaps persist: Genetic counseling was explicitly documented in only 11 studies, while access to advanced molecular diagnostic technologies varied across regions.
Working on this review further strengthened my interest in molecular hematology and genetic diagnostics, particularly in bridging the gap between technological advances and their clinical applications.
I would also like to express my sincere gratitude to my professors, Dr. Shadi Tabibian and Dr. Majid Safa, for their invaluable guidance, expert insights, and continued support throughout this study. Their contributions were greatly appreciated.
I hope our findings contribute to ongoing efforts to improve prenatal diagnostic strategies and promote more accessible and informed genetic counseling for families affected by hemophilia.”
Title: Two decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices
Authors: Seyed Mehrab Safdari, Mehdi Bakhtiyaridovvombaigi, Fatemeh Damerchiloo, Akram Sadat Jaafarian, Fateme Amiri Samani, Majid Safa, Shadi Tabibian

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