How carrier screening of couple ruled out the risk of SMA in children
A couple approached for pre-pregnancy counseling as the husband’s real brother could not walk due to severe muscle weakness and died at 12 years of age due to respiratory failure. Couple was concerned about the risk of having their own children with the same condition . After the genetic counseling session , both husband and wife were recommended to go with a carrier screening test. Carrier screen is a genetic test which looks for the carrier status of a couple for genetic disorders like SMA and their risk of transmission to children. Couple had a sigh of relief once the test results for carrier screening came and found to be negative for carrier status and thereafter had a healthy child by naturally conceiving.