Prenatal Diagnosis of Organic Acidemias – Experience from a Tertiary Care Hospital in India

• DOI: 10.4103/genc.genc_2_25
• Publication Date: 2025-03-19T06:00:11Z
• Authors: Deepti Gupta; Sunita Bijarnia-M...; Sudha Kohli; Sudhisha Dubey; Divya C. Thomas; Papai Roy; Jyotsna Verma; Renu Saxena; Ishwar Chander Verma; Ratna Dua Puri
• Keywords: Tertiary care

Abstract Background: In India, the tradition of marriages, largely confined to same ethnic groups or within families, increases proportion autosomal recessive genetic disorders. This includes organic acidemias (OAs) too. With immense burden treatment these disorders, uptake prenatal diagnosis (PND) is high. We present our experience in PND for common five OAs, namely methylmalonic acidemia (MMA), propionic (PA), glutaric type 1 (GA1), isovaleric (IVA), and maple syrup urine disease (MSUD). Objective: The objective this study was describe spectrum OAs from center. Materials Methods: Pregnant women with previous children affected any undergoing diagnostic testing were enrolled, 2008 2023. performed using targeted molecular on either chorionic villous sampling amniotic fluid samples. pathogenicity all variants results analyzed. Results: Among 57 families 80 PNDs, confirmation achieved 41 via proband. Parental confirmed further 16 families. PA emerged as most disorder 28 followed by 21 MMA, 18 MSUD, 10 PNDs GA1 cases, 3 IVA Affected fetuses observed 22 pregnancies. One family MSUD noted a second related CANT1 . Conclusion: feasible effective method prevention burdensome population.