Newborn Screening: Everything You Need to Know – Bubbable


Newborn Screenings: Everything You Need to Know About Newborn Screening

Newborn screening is a part of a public health program in each state of the U.S. Most newborns get blood tests for diseases that are not detected at birth time. Health professionals do more tests for early diagnosis of rare disorders, including hormone-related, genetic, and metabolic abnormalities that can cause significant health problems with a simple blood test.

What Is Newborn Screening?

When a child is born, a simple blood test is taken to diagnose rare disorders. After 48-72 hours of the child’s birth, newborn screening takes place. The baby's blood sample is collected from the baby's heel.

Screening tests of newborns differ per state. With the evolution of technology and advanced therapies, the tests available have changed a lot. Though there are national recommendations for newborn screening, states are free to choose which newborn screening test to include.

Why Are All Babies Screened At Birth?

Most babies are born healthy. However, they appear and seem like normal newborns, few infants have rare, but serious medical problems. Such babies usually belong to families who have no previous history of severe disability. Newborn screening lets doctors treat and detect certain diseases before they cause babies to become ill. Usually, babies with such disorders, when diagnosed and treated early enough can develop normally and can grow up healthy.

How is the Newborn Screening Test Done?

The baby's heel is pricked, and a sample is collected from the baby's blood. The newborn screening tests occur before the newborn leaves the hospital, usually within the first two days of their life. If your baby was not born in a hospital, talk to your doctor about newborn screening.

Blood Tests

A blood sample should be collected after the first 24 hours of life. However, some babies are tested within the first 24 hours because moms and newborns are occasionally discharged within one day. The baby's health care provider advises waiting 1 to 2 weeks before taking another sample if this occurs. In some states, all neonates are subjected to two tests.

Hearing Screening

This test determines whether or not you have hearing loss. Your provider will put tiny earphones in your baby's ears and use special computers to see how they react to sound through this test.

Heart Screening

This test is performed to evaluate a group of heart problems known as critical congenital heart defects in newborns (also called critical CCHDs or CHDs). Pulse oximetry is a basic test that is used. A pulse oximeter machine and sensors placed on your baby's skin are used to check the amount of oxygen in their blood.

What Conditions Does Newborn Screening Look For?

Newborn screening covers at least 25 conditions. The following are the most common:

  • Endocrine Disorders (congenital hypothyroidism)
  • Hemoglobin Disorders (maple syrup urine disease)
  • Organic Acid Metabolism Diseases
  • Amino Acid Metabolism Diseases
  • Fatty Acid Metabolism Abnormalities (chain acyl CoA dehydrogenase, medium-chain acyl CoA)
  • Congenital Adrenal Hyperplasia

Other disorders

  • Critical congenital heart disease (CCHD)
  • ​​​​​​​Biotinidase deficiency (BIOT)
  • Hearing loss (HEAR)
  • Classic galactosemia (GALT)
  • Cystic fibrosis (CF)
  • X-linked adrenoleukodystrophy
  • Glycogen storage disease type II (Pompe disease) (POMPE)
  • Mucopolysaccharidosis type 1 (MPS I)
  • Severe combined immunodeficiency (SCID)
  • Spinal muscular atrophy due to homozygous deletion of exon 7 in SMN1

Other criteria are only evaluated in certain states and territories. You can inquire about the conditions covered by newborn screening in your hospital or community.

Some illnesses and disorders are not covered by neonatal screening. If you have a family history of any diseases or conditions, tell your doctor.

Results of Newborn Screening Tests

The newborn screening results are normally available two weeks following the test when they are forwarded to your midwife or the birthing center. Almost all newborns have normal outcomes. Typically, you will only be informed of your baby's test findings if there is a problem.

You can take your child right away to a specialist for more testing to diagnose the problem. This can help you a lot to save your baby from possible dangers. The earlier your baby's problem is identified, the earlier treatment can begin.

When Should Neonatal Screening Be Repeated?

The newborn screening tests for certain babies must be repeated if he has the following symptoms:

  • The screening test cannot be performed because there is insufficient blood.
  • The results of your newborn's initial screening test were unclear or barely outside the normal range.
  • Your baby was born early and required blood transfusions from a donor.
  • Your baby was born early and was fed intravenously before being introduced to breastmilk or formula.

If your infant needs to be tested again, your health professionals will notify you for further testing. It's critical to take your infant for a repeat test as soon as possible if you've been instructed to do so.

Many of the health problems discovered by neonatal screening are hereditary.

Newborn screening is vital for early evaluation and diagnosis of abnormalities and disorders. If a medical condition is diagnosed early, it leads to proper treatment and early recovery. Hopefully, this blog helps you know everything related to neonatal screening and enables you to take measures accordingly.