Congrats on the arrival of your little one! Before you take your baby home, there’s an important step that needs to be completed: newborn screening. Depending on where you reside, your baby will undergo several different tests designed to identify potential disorders that could lead to serious health complications, including early mortality or lifelong disabilities. It’s essential to understand what tests are available and what your state may offer.
What Tests Are Performed After Birth?
According to the March of Dimes, there are screenings for over 30 different disorders. However, not every state tests for all these conditions. The organization suggests that all states should at least screen for these 30 specific disorders, especially when effective treatments are available. Here’s a shortlist of some of the disorders commonly tested, along with the estimated frequency of occurrence:
- 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
- Hydroxymethylglutaric aciduria (HMG)
- Argininosuccinic acidemia (ASA): 1 in 70,000 babies
- Beta-ketothiolase deficiency (BKT)
- Biotinidase deficiency (BIOT): 1 in 75,000
- Carnitine transporter deficiency (CTD): 1 in 40,000 babies
- Citrullinemia (CIT)
- Congenital adrenal hyperplasia (CAH): 1 in 15,000
- Congenital hypothyroidism (Hypothyroidism): 1 in 3,000
- Cystic fibrosis (CF)
- Galactosemia (GALT): 1 in 30,000-60,000
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency
- Glutaric acidemia type I (GA I)
- Sickle cell disease (SCD): 1 in 400 African Americans
- Phenylketonuria (PKU): 1 in 25,000
The most common tests include PKU, congenital hypothyroidism, galactosemia, and cystic fibrosis. The American Academy of Pediatrics recommends that if a newborn’s initial screening occurs within the first 24 hours of life, a follow-up specimen should be collected one to two weeks later.
Which Tests Does My State Conduct?
To find out which screenings are performed in your state, visit the National Newborn and Genetics Resource Center. Remember, newborn screenings are mandated by state law. If you prefer not to have these tests done, be sure to discuss your wishes with your healthcare provider.
How and When Are Tests Conducted?
Blood is typically drawn from your baby’s heel, known as the heel-stick test, before being discharged from the hospital or within a few days after birth. The March of Dimes suggests the following timeline for optimal blood specimen collection:
- Optimal Time: 3-5 days old or between 48 to 96 hours after birth.
- Satisfactory Time: 2 days old or at least 24 hours post-birth.
- Limited Results: 1 day old or less than 24 hours after birth.
There are two main types of tests: newborn screening (NBS) and tandem mass spectrometry (MS/MS). The latter can screen for multiple disorders simultaneously. Generally, you won’t be notified if the results are negative, but if any condition is detected, you will be informed promptly for further testing.
Should I Get Additional Screenings for My Baby?
There are various reasons why certain tests may not be performed by hospitals or doctors. Factors like availability, cost, insurance, staffing, and your baby’s risk level can play a part. If additional screenings are needed, they will typically require a written order from a physician.
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In summary, newborn screening is a critical step in ensuring your baby’s health. Understanding the tests available in your state and their importance can help you make informed decisions for your child’s well-being.