Ravi & Swati’s Story

Ravi and Swati, a non-consanguineous couple, lost their child on the 52nd day of life. The infant was suspected of having Maple Syrup Urine Disease (MSUD), an inherited metabolic disorder in which the body is unable to properly break down certain amino acids. This leads to a build-up of toxic substances in the blood, resulting in severe neurological complications that can be life-threatening.

Unfortunately, the condition could not be confirmed through further investigations due to the child’s early demise. The couple was subsequently advised to undergo genetic carrier screening to determine whether a hereditary mutation was present.