Newborn Screening: An Urgent Need for Awareness
Every year, 25 million babies are born in India. An Indian study shows that less than 750,000 babies born in India in 2019 were screened for at least one disorder — less than 3% of all babies born. Of the 25 million babies born every year, 800,000 are born with congenital malformations, 25,000 with metabolic disorders, 350,000 with G6PD deficiency, and 15,000 with Congenital Hypothyroidism. This emphasises the urgent need for routine newborn screening (NBS) in India.
Why Is NBS Important?
Inborn errors of metabolism (IEMs) are inherited conditions caused by genetic changes that hamper the body’s ability to convert food to energy. These could lead to lifelong neurological implications and in severe cases even result in the death of the newborn. With manageable outcomes and easily available treatments, NBS ensures that babies can be identified for conditions and managed from a very early stage — even before any symptoms manifest.
How and When Is the NBS Test Done?
When a baby is 24–48 hours old, a healthcare professional takes a very small amount of blood from the heel of the baby (a heel stick). The timing is important — if the sample is drawn before 24 hours, the results might not be accurate. A few drops of blood are collected on filter paper to create dried blood spots, along with key information about the baby (name, sex, weight, date/time of birth, date/time of heel stick, date/time of first feeding).
What Is Tested in NBS?
Basic NBS covers:
Biotinidase Deficiency
Congenital Adrenal Hyperplasia (CAH)
Congenital Primary Hypothyroidism (CH)
Glucose 6-Phosphate Deficiency (G6PD)
Cystic Fibrosis (CF)
Galactosemia
Phenylketonuria (PKU)
An extensive NBS covers conditions associated with amino acids, organic acids, and fatty acid oxidation disorders.
What to Expect from Results
Results are sent to the healthcare provider, who immediately informs the parents. If results show an elevated level for a particular condition, families are referred for genetic counselling to understand the implications. Genetic counsellors help families understand the condition, reassure parents, and in cases where treatments are not available, explain further management options.
BabyMap Newborn Screening
BabyMap Newborn Screening (supplemental NBS) by MapmyGenome provides you and your physician with information regarding your newborn’s risks for developing genetic conditions, along with recommendations to keep conditions under check. It includes pre-test genetic counselling, a genetic report, post-test genetic counselling, and recommendations from the genetic counsellor.
By Zainab Abbas, Board-Certified Genetic Counsellor, MapmyGenome
Give Your Newborn the Best Start with BabyMap
BabyMap Newborn Screening by MapmyGenome screens your baby for genetic conditions that may not be visible at birth — enabling early intervention before symptoms appear. Includes pre- and post-test genetic counselling.
