What is newborn screening?

Newborn screening refers to a set of special tests, including blood, hearing, and heart screening,
done to one- to two-day-old infants, usually before they leave the hospital. This is to check for any serious
health disorders that do not show signs at birth. The tests often scan for genetic and metabolic
abnormalities, hearing problems, specific heart problems, and other conditions that can hinder their
development.
Newborn babies that have health conditions may not exhibit any symptoms at infancy. If left
untreated, the baby may develop serious problems. This is why newborn screening is essential as it helps
with the early diagnosis of these conditions so babies can begin treatment as soon as possible—before the
disease even turns serious or so early interventions can be made.
What is the purpose of newborn screening?
The purpose of newborn screening is to detect potentially fatal or disabling conditions in newborns
as early as possible, often before the infant displays any signs or symptoms of a disease or condition. Such
early detection allows treatment to begin immediately, which reduces or even eliminates the effects of the
condition.
Why is newborn screening important?
Newborn screening identifies conditions that can affect a child's long-term health or survival. Early
detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full
potential, which if left untreated, may lead to mental retardation and/or death.

Common Screening Tests for Newborns

Early diagnosis, treatment, and management are the primary newborn screening benefits. If newborns are
not screened early on, they may suffer tragic consequences, including brain damage, developmental and
physiological delays, breathing problems, and even death. Below are the common screening tests for
newborns, including some of the health conditions that they can detect: 
 Metabolic issues: Newborns with organic acid metabolism disorders find it hard to digest food
correctly. Failure to get babies screened for this may cause developmental delay, breathing
problems, and neurological damage. Some of the common organic acids that build up in their body
include:
o Propionic acidemia (PROP)
o Methylmalonic acidemia
o 3-Methylcrotnyl CoA carboxylase deficiency
o Trifunctional protein deficiency (TFP)
 Hormone issues: These pertain to the glands that produce hormones. Disorders occur when the
glands either make too much or not enough hormones. These issues can cause growth and
developmental problems if not detected and treated within two (2) weeks of birth. Endocrine issues
that may be detected by a newborn screening include:
o Congenital hypothyroidism
o Congenital adrenal hyperplasia
 Hemoglobin issues: These disorders affect the red blood cells responsible for carrying oxygen to
the entire body. Some of the hemoglobin-related issues screened are:
o Sickle cell disease
o Hemoglobin SC disease
o Beta Thalassemia
 Other issues: Newborn screening can also detect rare but serious medical conditions, such as the
following:
o Cystic fibrosis
o Pompe disease
o Spinal muscle atrophy (SMA)
o Galactosemia