Incidence of Congenital Hypothyroidism and G6pd Deficiency in New Born

Congenital hypothyroidism is the most common congenital endocrine disorder in childhood and also is one of the most common preventable causes of mental retardation. The incidence in India is estimated to be 2.1 per 1000 live births.G6PD deficiency is also a common condition, affecting around 400 million people worldwide and is characterized by considerable biochemical and molecular heterogeneity. A higher incidence of G6PD deficiency is seen in tropical and subtropical zones of the world. Aims and Objectives: 1. To estimate the incidence of congenital hypothyroidism and G6PD Deficiency in newborn population born in a tertiary care centre. 2. To study the natural history of screen positive cases. Materials and Methods: The study was conducted on 1555 patients in the department of Paediatrics, Nalanda Medical College and Hospital, over a period of 18 months from Apr 2019 to Sept. 2020. Umbilical cord mixed blood samples were collected in a sterile and EDTA container, drawn from placental side of the umbilical cord incised while severing it at the time of birth. Results: The presenting age of the mothers ranged from 18 to 43 years with an average age of 27 years. Out of the 1027 mothers, the highest peak i.e. 430mothers (41.04%) were aged between 25 to 30 years. Mothers who where aged > 36 formed the lesser group. Of the 1555 neonates whose cord blood samples were analyzed 43 neonates had TSH values more than 20 mIU /L. On re estimation of TSH and T4 values more than 72 hrs later all cases who were found to have higher TSH values in cord blood had age appropriate TSH and T4 values. Of the 1555 cord samples 7 of them were found to be G6PD deficient (value taken as less than 6.95 mU/g of Hb). Conclusion:The present study adds emphasis on the need for continuing screening for the most important preventable cause of mental retardation. Similarly there were 7 cases of G6PD deficiency found on cord blood estimation. This study also showed that there is no significant difference between cord blood and venous sample values indicating that cord blood estimation suffices for screening purposes