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 patients who were offered prenatal diagnosis for genetic disorders at a tertiary genetic center in India.

Methods

The study included 1,738 prenatal samples for the period of 2008 to 2022, identified as being at high risk for rare genetic disorders based on family history, previous affected children, and abnormal ultrasound findings. Participants underwent prenatal diagnostic tests, including chorionic villus sampling or amniocentesis, or fetal blood by various molecular techniques and enz

SUBMITTER: Sheth J 

PROVIDER: S-EPMC12403508 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature