Newborn screening includes testing for

metabolic disorders, hearing loss, and heart defects

Your midwife performs the newborn metabolic, heart defect, and hearing screening at the first postpartum visit in your home.

These newborn health screens are minimally invasive to the newborn, relatively low cost, and have high benefit of detecting or preventing larger problems later.  Let’s look at each one a bit more closely.

The hearing test

Hearing loss in a newborn occurs in about 1-2% of births.  The loss can be mild to severe or profound and all affect the brain and language development. Without screening, the average age of a child identified with hearing loss is about 2 1/2 years old.  Each child benefits from early identification of the hearing loss so that therapy and interventions can be started.  This is why follow-up is SO important.

The screening test is non-invasive and quick.  Small headphones are placed over the baby’s ears, sounds are sent, and the inner ears’ response is measured.  The baby must be calm during the test, and often falls asleep.  Sometimes the first test, or future tests, are inconclusive and your baby will be asked to come back again for repeat testing.  If an abnormal test happens, your baby will be referred for more in-depth testing.

The newborn screening blood spot test, a.k.a the “heel poke” or “PKU test”

This is performed at about 24 hours old by the midwife at the first home visit  and again at the one week visit (or before leaving the hospital and again at the pediatrician’s office).  It is also known as the PKU.

In a baby with a normal metabolism, metabolic by-products are made and then broken down or used up without causing any problems.  Some babies are born with inborn metabolic errors that typically cause toxic levels of normal metabolic by-products to build up.  These by-products can be measured via a dried blood sample taken from the baby at specific times: 24 hours and up to 5 days.  Each state has the same basic panel plus others that have been deemed necessary.

You can choose to have me or your pediatric care provider do the poking of your baby’s heel.  If I do it, it is generally done at the end of the postpartum home visit when you are holding him, he is warm, and he is nursing.  This helps with the pain of the poke.  Usually, the baby cries briefly and then continues to nurse.  I will take the sample, process it, and mail it to the DOH.  You can decline the newborn screening tests but must sign the screening card stating your refusal.

The critical congenital heart defect screening, a.k.a. CCHD

A congenital heart defect screening takes place at the 24-36 hour visit using a handheld pulse oximetry unit.  The midwife attaches the probe to the baby’s hand and foot while the baby is calm and alert.  The pulse and oxygen levels are monitored.  Abnormal oxygen levels can be a sign of a heart defect that causes mixing of oxygenated and deoxygenated blood.

This is a screening test, not a diagnostic test, which means that some babies will be positive or negative when they actually are not.  In other words, some normal babies will have abnormal readings and be sent for further evaluation by the pediatrician, but have no cardiac defects.  Even though this can create some fear for the parents, it is much better for some babies to have extra testing so that no babies with real abnormalities get missed.