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An Overview

A screening test is done to detect a potential health problem or condition in someone that doesn’t yet show signs or symptoms. The purpose of screening is early detection in order to begin treatment and intervention as soon as possible.

What You Need to Know

Newborn screening is a state public health service that reaches each of the nearly 4 million babies born in the United States each year. It ensures that all babies are screened for certain serious conditions at birth, and for those babies with the conditions, it allows doctors to start treatment before some of the harmful effects happen.

Newborn screening is performed soon 24-48 hours the birth of your baby. All it takes is a few drops of blood, measurement of oxygen levels, and a simple hearing test.

Prenatal screening is done on a mom during pregnancy to determine if the baby might have a genetic condition, such as Down Syndrome, before the baby is born.

Developmental screening includes non-medical tests that determine if a child is developing physically, cognitively, socially and emotionally on schedule for their biological age. If a child is delayed in their development, this is sometimes referred to as a developmental delay. The reason a diagnosis of developmental delay is important in the world of genetics, is that a large number of genetic disorders can show up in a young child in the form of delays, missed milestones and inability for the child to sit, crawl, stand, walk, or talk at the same time as other children their age.

The words screening and testing are often used interchangeably, but they mean very different things. An out-of-range result from a screening should always be followed up by a test to confirm those results. For instance, if a child has an out-of-range newborn screen for a condition, there will always be follow-up testing to confirm or deny that screening result. The testing may confirm or deny a diagnosis.

Learn More

Here’s a list of trusted resources that you can use to learn more about different types of screening. 

Remember, that you’re not alone.

Read family stories at Baby’s First Test.

Your Genetics Journey

Family History

Family members share genes, habits, lifestyles, and surroundings.

A Genetics Referral

The term "referral" can mean both the act of sending you to another doctor or therapist, and to the actual paperwork authorizing your visit.


A screening test is performed as a preventative measure – to detect a potential health problem or disease in someone that doesn’t yet have signs or symptoms.

A Genetic Diagnosis

Families may feel a range of emotions after the diagnosis of a genetic condition. You may feel afraid of what is going to happen next. Or, you may have a sense of relief from learning what the cause of a medical problem is.


The National Genetics Education and Family Support Center (Family Center) provides tools and resources to support family engagement and genetic services.

Contact info

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