| Abstrakt: |
A study conducted at JSS Medical College in South India focused on implementing and validating newborn screening for inborn errors of metabolism. The research aimed to assess the effectiveness of screening for various conditions in neonates, such as congenital hypothyroidism, cystic fibrosis, and phenylketonuria. The study found that while the reference ranges used were suitable for the Indian population, there was a challenge in ensuring follow-up compliance for screen-positive infants, highlighting the need for increased public education on these conditions. Future research will focus on improving parental awareness and follow-up rates in this area. [Extracted from the article] |
