A test? Already?!? What is Newborn Bloodspot Screening?


A test? Already?!? What is Newborn Bloodspot Screening?

Welcoming a new baby is a wonderful and busy time! The newborn hospital stay can be a whirlwind of joy and sleep deprivation. During the first few days, the nursery team does a lot of testing for both mom and baby. One of these tests is the “Newborn Bloodspot Screening” (NBS) but many parents (and babies) don’t really know the ins and outs of what this means. Since September is Newborn Screening Awareness Month, I thought I’d share a behind-the-scenes look at Newborn Bloodspot Screening.

Newborn screening started back in the 1950s and 1960s when a test was developed to screen for a rare genetic condition called phenylketonuria (PKU). PKU is a disorder that is asymptomatic at birth but if left untreated can be neurologically devastating. Treatment consists of dietary modifications (you’ll see PKU warnings on many food labels) to reduce the amount of phenylalanine in the diet. If this diet is started in the first few weeks the outlook is very good and many of the severe symptoms can be prevented. This was revolutionary to the fields of pediatrics and public health – and screening every newborn for PKU quickly became standard.

Since then, NBS has expanded to include several other inherited diseases. Newborn screening programs vary from state to state and are usually administered through state health departments. In Virginia, there are currently 33 conditions that are tested on the initial blood spot, including cystic fibrosis, sickle cell anemia, and congenital hypothyroidism. Most of these are very, very rare diseases but because an early diagnosis and early intervention make a huge difference all babies are tested. It’s drilled into pediatricians during training to make sure that all babies are tested, and that we receive and review results for every newborn.

So practically speaking – how does this work? 

The test is done during the first 24-48 hours of life and involves a heel stick to obtain a blood sample from the baby. This blood sample is applied to a special filter paper that is then sent to a special lab, often through the state’s Department of Health. Results are usually available in 1-2 weeks. Notification practices vary by state, but typically if any of the blood spot testing is abnormal the newborn screening program will notify the parents, the birth hospital, and your pediatrician. If an initial blood spot test is abnormal, babies will need additional follow-up for confirmatory testing, usually initially guided by your pediatrician in consultation with specialists. If the test is normal, your pediatrician should have received the result by your two-week or one-month check-up and can go over your baby’s results.

A great resource for parents and healthcare providers is https://www.babysfirsttest.org/ – it has information about screening programs in every state.

Dr. Elizabeth Cilenti

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