Bringing baby home
A 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. This makes it possible to avoid more serious health problems later in life.
All babies in the United States get newborn screening. But each state decides which tests are required. Ask your baby’s healthy care provider which tests your baby will have.
How is newborn screening done?
Newborn screening is done in three ways:
- Most newborn screening is done with a blood test. Your baby’s provider pricks your baby’s heel to get a few drops of blood. The blood is collected on a special paper and sent to a lab for testing. The lab then sends the results back to your baby’s health provider.
- For the hearing screening, your provider places a tiny, soft speaker in your baby’s ear to check how your baby responds to sound.
- For heart screening, a test called pulse oximetry is used. This test checks the amount of oxygen in your baby’s blood by using a sensor attached to his finger or foot. This test is used to screen babies for a heart condition called critical congenital heart disease (CCHD).
When is newborn screening done?
Your baby gets newborn screening before he leaves the hospital, when he’s 1 or 2 days old. Some states require that babies have newborn screening again about 2 weeks later.
If your baby is not born in a hospital, talk to your baby’s provider about getting newborn screening before he is 7 days old.
What if newborn screening results aren’t normal?
Most newborn screening results are normal. In rare cases when 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?
Almost all of the health conditions found by newborn screening are inherited. This means they are passed from parents to children.
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 know about genetics, birth defects and other medical problems that run in families.
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.
How many health conditions should your baby be screened for?
The March of Dimes would like to see all babies in all states screened for at least 31 health conditions. Many of these health conditions can be treated if found early.
All states require newborn screening for at least 26 health conditions. Some states require screening for additional conditions – some up to 50 or more. Ask your health care provider how many conditions your state requires.
The health conditions are divided into five groups:
1. Organic acid metabolism problems. Babies with these problems don’t metabolize food correctly. Metabolism is the way your body changes food into the energy it needs to breathe, digest and grow.
- Isovaleric acidemia (IVA)
- Glutaric acidemia (GAI)
- Hydroxymethylglutaric aciduria, also called 3-OH 3-CH3 glutaric aciduria (HMG)
- Multiple carboxylase deficiency (MCD)
- Methylmalonic acidemia, mutase deficiency (MUT)
- 3-methylcrotonyl-CoA carboxylase deficiency (3MCC)
- Methylmalonic academia, CB1 A and CBl B forms (Cbl A,B)
- Propionic acidemia (PROP)
- Beta-ketothiolase deficiency (BKT)
2. Fatty acid oxidation problems. When your body runs out of sugar, it usually breaks down fat for energy. A baby with fatty acid oxidation problems can’t change fat into energy.
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
- Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
- Trifunctional protein deficiency (TFP)
- Carnitine uptake defect (CUD)
3. Amino acid metabolism problems. Babies with these problems can’t process amino acids in the body. Amino acids help the body make protein.
- Phenylketonuria (PKU)
- Maple syrup urine disease (MSUD)
- Homocystinuria (HCY)
- Citrullinemia (CIT)
- Argininosuccinic acidemia (ASA)
- Tyrosinemia type I (TYR I)
4. Hemoglobin problems. These problems affect red blood cells. Red blood cells carry oxygen to the rest of the body.
5. Other problems
- Congenital hypothyroidism (HYPOTH)
- Biotinidase deficiency (BIO)
- Congenital adrenal hyperplasia (CAH)
- Galactosemia (GALT)
- Hearing loss (HEAR)
- Cystic fibrosis (CF)
- Severe combined immunodeficiency (SCID)
- Critical congenital heart disease (CCHD)
For more information
National Newborn Screening and Genetics Resource Center
Baby’s First Test
Last reviewed March 2012