HealthGenetic Testing Reveals Rare Tay-Sachs Disease Despite Normal Ultrasounds
A 30-year-old woman with a history of losing two children to seizures and early death had normal prenatal ultrasounds during her fourth pregnancy. Advanced genetic testing revealed her baby had Tay-Sachs disease, a rare autosomal recessive lysosomal storage disorder caused by mutations in the HEXA gene. The case highlights the importance of genetic testing when ultrasounds show no abnormalities.
Deccan Herald·

