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Prenatal diagnosis of rare genetic disorders: fourteen years’ experience of a tertiary genetic centre from India

Abstract Background Rare genetic disorders are increasingly diagnosed due to advancing genetic technology, whilst, treatment for them is challenging. Therefore, their prevention by prenatal diagnosis is a way forward to reduce the overall burden. The present study provides an overview of a cohort of...

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Main Authors: Jayesh Sheth, Tejasvi Dhondekar, Manali Ajagekar, Chaitanya Datar, Archana Kher, Jigish Trivedi, Swati Thakkar, Ajit Gandhi, Meenakshi Soni, Mayank Chaudhary, Manish Banker, Anil Jalan, Mamta Muranjan, Sujal Munshi, Ami Munshi, Mili Pandya, Jhanvi Shah, Aadhira Nair, Riddhi Bhavsar, Frenny Sheth, Harsh Sheth
Format: Artigo
Language:Inglês
Published: BMC 2025-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Rare disease
Diagnosis
Treatment challenges
Prevention
Prenatal diagnosis
Awareness
Online Access:https://doi.org/10.1186/s13023-025-04003-9
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