Newborn Screening Information

By Prev Info - February 18, 2022

Newborn screening is the process of testing newborns for serious medical conditions before they are symptomatic. Babies, before they leave the hospital, receive tests to identify genetic, metabolic, hematologic diseases and diseases of the endocrine system. According to Medline Plus, the chances a newborn has such a disease is rare, but early diagnosis and intervention can improve a baby's mental and physical development.

Newborn Screening Information


Newborn screening began in the 1960s after scientist Robert Guthrie, PhD, made a test that could tell if a newborn had phenylketonuria (PKU), a metabolic disorder. The 1990s introduced screenings for congenital hypothyroidism. Scientists in the 1990s, such as Edwin Naylor developed the tandem mass spectrometry screening and the capability to detect other congenital metabolic diseases with one drop of a newborn's blood.


Newborn screening lets doctors know if a baby has a serious disorder before he displays symptoms. The diseases or metabolic disorders doctors test for in newborns can prevent premature death, mental retardation, a hearing impairment or a physical disability later on in an infant's life. The metabolic disorders doctors test for can eventually hinder the body's efficient use of nutrients along with tissue and energy production, cause hormonal problems or disorders of the blood. Because parents can pass along a gene for a disorder and not know it, it is important to detect the disorder early so a baby has a better chance of developing normally.

Target Conditions and Disorders

The screening tests available to newborns vary by state, but there are tests every state is required to perform on all newborns. The basic tests look for the following diseases and disorders: congenital adrenal hyperplasia, congenital hypothyroidism, sickle-cell disease, Galactosemia, maple syrup urine disease, homocystinuria, biotinidase deficiency and hearing loss. According to the U.S. National Newborn Screening and Genetics Resource Center, the tests every state performs on newborns are the CH (congenital hypothyroidism), H-HPE (benign hyperphenylalaninemia), PKU (phenylketonuria/hyperphenylalaninemia), HEAR (hearing) and GALT (transferase deficient galactosemia) tests. Supplemental tests are available through independent laboratories.

Screening Procedures

Newborns are screened on their second or third day of life, after they have eaten and metabolized milk. To collect a blood sample from a newborn, a doctor, midwife or nurse pierces a baby's heel. The pierce draws enough blood to fill small test areas on a piece of filter paper. The hospital or midwife sends the filter paper to a lab with the state's health department for analysis. The parents will receive notice of their newborn's test results if abnormalities were found. The hearing test is performed by placing an earphone in a newborn's ear to see how the baby responds.

Financial Assistance for Supplemental Newborn Screening Tests

Screening by mass spectrometry is not required throughout the United States, and parents have the option of including this screening for an extra fee. Newborns should receive supplemental screening if certain genetic or metabolic disorders are common in a family. The Save Babies through Screening Foundation states qualifying parents living in specific states may be eligible for a free supplemental screening packet.





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