Newborn screening tests for your baby

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.

All babies in the United States get newborn screening. About 4 million babies are screened every year.

When is newborn screening done?

Your baby gets newborn screening before she leaves the hospital after birth, when she’s 1 to 2 days old. If your baby isn’t born in a hospital, talk to her provider about getting newborn screening at 1 to 2 days of age. Some states require that babies have newborn screening again about 1 to 2 weeks later.

How does newborn screening happen?

There are three parts to newborn screening:

1. Blood test. Most newborn screening is done with a blood test to check for rare but serious health conditions. A health care provider pricks your baby’s heel to get a few drops of blood. He collects the blood on a special paper and sends it to a lab for testing. Blood test results are usually ready by the time your baby is 5 to 7 days old. To find out more about the timeframes for sending blood samples to lab and getting test results back, ask your baby’s provider or the hospital staff.
2. Hearing screening. This test checks for hearing loss. For this test, your provider places tiny earphones in your baby’s ears and uses special computers to check how your baby responds to sound.
3. Heart screening. This test is used to screen babies for a group of heart conditions called critical congenital heart defects (also called critical CHDs or CCHDs). It uses a simple test called pulse oximetry. Pulse oximetry checks the amount of oxygen in your baby’s blood by using a pulse oximeter machine and sensors placed on your baby’s skin.

What if newborn screening results aren’t normal?

Most newborn screening results are normal. If your baby’s screening results aren’t normal, it may simply mean she needs more testing. Your baby’s provider then recommends another kind of test, called a diagnostic test, to see if there is a health problem. If the diagnostic test results are normal, no more testing is needed. If the diagnostic test results are not normal, your provider can guide you about next steps for your baby.

If one of your children has a health condition, will another have it, too?

Many of the health conditions found by newborn screening are inherited. Inherited means something that is passed from parent to child through genes. Genes are a part of your body’s cells that store instructions for the way your body grows and works.

When one child in a family has an inherited health condition, the chance of a brother or sister having the same condition is higher than if no child in the family has the condition.

If you have a child with a health condition and you want to have another baby, talk to your health care provider or a genetic counselor. A genetic counselor is a person who is trained to help you understand about genes, birth defects and other medical conditions that run in families, and how they can affect your health and your baby’s health.

Sometimes hearing loss is not inherited. For example, it can be caused by an infection during pregnancy. In this case, it usually doesn’t happen in another pregnancy.

What kinds of health conditions does newborn screening test for?

Each state requires different tests, so ask your baby’s health care provider which tests your baby will have. You also can visit babysfirsttest.org to find out what conditions your state tests for.

March of Dimes works with states to ensure they are testing babies for the health conditions recommended by Department of Health and Human Services (also called HHS). The list of health conditions recommended by HHS is called RUSP or Recommended Uniform Screening Panel. March of Dimes would like to see all babies in all states screened for at least 35 health conditions. Many of these health conditions can be treated if found early. The health conditions are divided into six groups:

1. Organic acid metabolism disorders. Metabolism is how well and fast your body processes what you eat and drink. Babies with organic acid metabolism disorders don’t break down food correctly, causing substances called organic acids to build up in the body.

• Propionic acidemia (PROP)
• Methylmalonic acidemia (methylmalonyl-CoA mutase deficiency) (MUT)
• Methylmalonic acidemia (cobalamin disorders) Cbl A, B)
• Isovaleric acidemia (IVA)
• 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)
• 3-hydroxy-3-methylglutaric aciduria (HMG)
• Holocarboxylase synthase deficiency (MCD)
• Beta-ketothiolase deficiency (BKT)
• Glutaric acidemia type 1 (GA-1)

2. Fatty acid oxidation disorders. During digestion, the body breaks down fat into fatty acids for energy. A baby with fatty acid oxidation problems can’t change fat into energy properly.

• Carnitine uptake defect/carnitine transport defect (CUD)
• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
• Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
• Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
• Trifunctional protein deficiency (TFP)

3. Amino acid metabolism disorders. Babies with these problems can’t process certain amino acids properly in the body. Amino acids help build protein in your body.

• Argininosuccinic aciduria (ASA)
• Citrullinemia type 1 (CIT)
• Maple syrup urine disease (MSUD)
• Homocystinuria (HCY)
• Classic phenylketonuria (PKU)
• Tyrosinemia type I (TYR I)

4.   Endocrine disorders. These problems affect the glands that make hormones. Hormones are chemicals made by the body. Hormones help with many processes in the body, like growth and development.

• Primary congenital hypothyroidism (CH)
• Congenital adrenal hyperplasia (CAH)

5.   Hemoglobin disorders. These problems affect red blood cells. Red blood cells carry oxygen to the rest of the body.

• S,S disease (sickle cell anemia) (Hb SS)
• S, beta-thalassemia (Hb S/ßTh)
• S, C disease (Hb S/C)

6.   Other disorders

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

For more information

Baby’s First Test

Last reviewed: July 2020