September is Newborn Screening (NBS) Awareness Month

Visible Birth Defect

Functional Birth Defects

Metabolic Defect 

What is newborn screening?

When your baby is 1 to 2 days old, he has some special tests called newborn screening.   Newborn screening checks a baby for serious but rare and mostly treatable health conditions at birth. It includes blood, hearing and heart screening.

Your baby can be born with a health condition but may not show any signs of the problem at first. If a health condition is found early with newborn screening, it often can be treated. Early treatment is important, because it may help prevent more serious health problems for your baby.

 

Newborn screening is a public health program that tests infants for serious but treatable conditions that may not be apparent at birth. Early detection allows for timely treatment, which can prevent death, intellectual disability, and other lifelong health problems. The specific tests performed vary by state or country, but generally include three main types:

Blood Spot Screening 🩸
This is the most common type of newborn screening. A few drops of blood are taken from the baby's heel, dried on a special filter paper, and sent to a lab for analysis. This single blood sample can be used to screen for dozens of disorders.

Metabolic Disorders: Conditions where the body can't properly process nutrients from food, such as Phenylketonuria (PKU), galactosemia, and maple syrup urine disease.

Endocrine Disorders: Conditions involving hormone production, such as congenital hypothyroidism and congenital adrenal hyperplasia.

Hemoglobin Disorders: Conditions affecting red blood cells, such as sickle cell disease.

 

Hearing Screening 👂
This test checks for hearing loss. It's quick, painless, and can be done while the baby is sleeping. There are two common methods:

Otoacoustic Emissions (OAEs): A tiny earphone is placed in the baby's ear canal, which plays a soft sound. If the inner ear (cochlea) is working properly, it produces an "echo" that the microphone in the earphone detects.

Automated Auditory Brainstem Response (AABR): This test uses small electrodes placed on the baby's head to measure how the auditory nerve and brainstem respond to sounds played through headphones.

Critical Congenital Heart Disease (CCHD) Screening ❤️‍🩹
This test screens for certain serious heart defects. It's a non-invasive procedure that uses a pulse oximeter—a small, soft sensor placed on the baby's hand and foot—to measure oxygen levels in the blood. Lower-than-expected oxygen levels can indicate a potential heart problem, prompting further diagnostic testing.