September is celebrated as the newborn screening awareness month. Some FAQ’s on NBS
1. What is NBS?
The newborn screen itself is a specific set of laboratory evaluations and point-of-care examinations performed on newborn infants in an attempt to identify clinically occult but potentially serious disorders that require expedient intervention.
2. How will NBS be helpful for my child?
It will help us diagnose your child for certain severe disorders of intellectual disability (hypothyroidism), sexual maturation (congenital adrenal hyperplasia), and metabolic systems (inborn errors of metabolism) which if managed before the child gets symptomatic, can lead to a good outcome which otherwise can cause permanent physical and intellectual sequelae.
3. How do I decide to go for NBS or not?
Although NBS is still an optional test in India, since it is meant to detect those serious disorders in babies, many of which can easily be managed, you can confidently go ahead and get your little one screened
4. Can disorders be prevented with NBS?
Usually, screening is performed for disorders that are already there but symptoms and complications have not developed. The diagnosis of these disorders during this window period enables timely intervention to prevent permanent sequelae and give a normal healthy life through appropriate management.
5. What types of NBS are available?
There are 2 types of screening available
A. Basic screening – includes screening for common preventable disorders like congenital hypothyroidism, congenital adrenal hyperplasia,biotinidase deficiency, galactosemia, G6PD deficiency and (at some places- congenital hearing loss, critical congenital heart disease)
B. Extended newborn screening- Include the basic screening and those metabolic disorders which if not diagnosed and left untreated can lead to serious neurological and other systemic morbidity. Examples- medium chain fatty acid oxidation defect (MFOD), organic academia like MMA, etc.
6. Which one should I be getting for my child?
If possible, one should get an extended screening. But at least one should not miss the basic screening because the management of these disorders is easily available and can prevent developmental and intellectual disability.
7. Is the procedure painful and lengthy?
No, it takes 3 drops of blood from the heel of the baby, not very painful and takes less than a minute.
8. What all is offered in screening?
Parental education, infant screening, appropriate follow-up, diagnostic testing, disease management, and continued evaluation are all components of the NBS
9. Who should I meet to know more?
You should consult a medical geneticist, a person trained in newborn screening or metabolic medicine, or your neonatologist to know more out the NBS and the disorders which are screened for.
Dr.Ambika Gupta
Medical Geneticist
Apollo Hospitals Gandhinagar
