What are some of the important newborn screening tests?


Congenital hypothyroidism
At birth, some babies are born with deficient levels of the thyroid hormone, which can adversely affect the mental development and growth of the baby.

This is a genetic disorder where the baby is unable to metabolize galactose. Treatment is needed immediately as galactosemia can be potentially life-threatening.

Sickle cell disease
If undetected, it can trigger chronic anemia in babies. If diagnosed early through blood tests, treatment can help offset the risk of infections, stroke and blood clots.

Hearing loss
This is an important screening test as it is estimated that one out of 1000 newborn experience hearing loss.

Congenital adrenal hyperplasia
This is a genetic disease affecting the adrenal glands. Babies that are victims of congenital adrenal hyperplasia (CAH) cannot produce an adequate amount of cortisol.

Biotinidase deficiency
This is a genetic disorder where the baby has a deficiency of the enzyme called biotinidase. This enzyme assists in the metabolism of biotin, a B vitamin. This condition can cause an accumulation of acids in the organs and blood, disrupting the functioning of various systems in the body.