Shadi Tabibian: Global Trends in Prenatal Diagnosis of Hemophilia A and B Over Two Decades
Shadi Tabibian, Director of the Iranian Comprehensive Hemophilia Care Center (ICHC) and Deputy of research at Blood Diseases Research Centers, Iran University of Medical Sciences, shared a post on LinkedIn about a recent article she and her colleagues co-authored, adding:
“Proud to share our new publication:
‘Two decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices.’
In this PRISMA-guided systematic review, we mapped global trends in prenatal diagnosis (PND) for hemophilia A and B over the last 20 years (2005–September 2025). We included 24 studies covering 969 pregnancies.
Key highlights
- Predominant sampling approaches: amniocentesis (45.8%) and CVS (41.6%)
- A clear methodological shift from linkage analysis toward more definitive molecular strategies, including PCR and direct sequencing (each reported in 45.8% of studies)
- cfDNA/NIPT is emerging (reported in 20.8% of studies), but broader validation and implementation pathways remain needed
- Persistent gaps: substantial heterogeneity in access/reporting and limited pregnancy outcome data in many reports
Overall, the field has advanced substantially – yet there remains a critical need for standardized reporting, equitable access to genetic services, and stronger evidence to support non-invasive pathways.”
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
Read the Full Article on Thrombosis Journal
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