Newborn Screening FAQs

What is newborn screening?

Newborn screening is a series of tests done on every newborn baby for specific harmful or potentially deadly conditions prior to hospital discharge. These mandatory screenings are for conditions not otherwise apparent at birth, allowing babies to be identified and treated before exhibiting symptoms. By doing so, medical providers can prevent severe health problems or even a possible fatality from developing. Newborn screenings are the safest and fastest way to protect babies against certain diseases and medical conditions.

What conditions are found through newborn screening?

The conditions examined in a newborn screening are metabolic and genetic disorders; this means that they can either be passed down from previous generations or they can appear for the first time in a family. For this reason, all babies should receive screening regardless of family history, normal ultrasound or lack of physical symptoms. While newborn screening is mandatory in all states, the conditions examined as part of a newborn screening process can vary from state to state. Some of the most common conditions investigated during a newborn screening process include sickle cell anemia, cystic fibrosis and hearing loss.

Are newborn screening conditions serious?

Yes, these conditions require immediate medical attention in order to prevent permanent disability or even death. Many of the conditions screened have the best prognosis if treated before symptoms appear.

Are newborn screening conditions common?

No, newborn screening conditions test positive in about 1 in 800 births. However, some conditions, such as sickle cell anemia, may appear more frequently.

How many lives are saved through newborn screening?

More than 12,000 babies’ lives are saved or are drastically improved every year through newborn screening in the US.

Who receives newborn screening?

Babies born at home, in hospitals and at military facilities all can receive screening; nearly all of the four million babies born each year in the US receive newborn screening. In most states, newborn screening is a standard hospital procedure, as routine as taking a baby’s length and weight measurements. New families should be sure to ask if the newborn screening test was done on their baby before leaving the hospital. Newborn screening is done regardless of health insurance; families without health insurance should still check to see that their newborn has been screened.

When does newborn screening take place?

Newborn screening typically is performed within the first 48 hours of a baby’s life. The timing is vital because some conditions found may be so severe that waiting longer can lead to death for a newborn baby. Some states even require a second screening during the child’s second week of life as a measure of greater accuracy.

How is newborn screening done?

There are three types of newborn screening: heel prick, hearing test and pulse oximetry. The heel prick checks for several metabolic and genetic conditions. A nurse or licensed midwife takes a few drops of blood from a baby’s heel and places it on a special filter paper card that is shipped to the state’s public health laboratory for testing. Soon following birth, a newborn is also tested for possible hearing difficulties. This is done by measuring brainwaves from sensors placed on the skin or by using a small microphone to measure activity within the ear. The third test, pulse oximetry, is done by some states to test for congenital heart disease using pulse oximetry sensors on the baby’s foot.

Are there national recommendations regarding newborn screening?

Each state screens for different conditions; in fact, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children works with the US Secretary of Health and Human Services to develop guidelines for these screenings. The group currently recommends screening for 31 conditions, including hearing loss and critical congenital heart disease. Differences between states are due to laws, funding, financial costs and the availability of tests and treatment.

As of right now, 10 states include adrenoleukodystrophy (ALD) in their newborn screening.