The Neonatal Screening Test Guide

Neonatal Screening Test Summary
What: Neonatal screening tests are performed on infants to detect possible disorders or diseases immediately after birth. There are over 40 screening tests available but most states only mandate that three to eight tests be given.
Who: Newborn infants undergo neonatal screening tests.
Where: Most neonatal screening tests are performed in the hospital prior to the infant going home. Private screening tests can be performed in a laboratory or other medical facility.
When: Newborn infants undergo neonatal screening tests.
How: Almost all neonatal screening tests are performed by obtaining a small blood sample from an infant.
Type: With the exception of hearing screening tests, all neonatal screening tests are blood tests.
Why: Most state regulated neonatal screening tests are performed when an infant is between one and seven days old, but can be done later as well.
Time: Neonatal screening tests take only minutes to perform. The length of time it takes to get results may vary depending on the test.
Language:
Preparation: With the exception of hearing screening tests, all neonatal screening tests are blood tests.
Cost: Costs may vary depending on the type of screening test performed and the location where it is performed. Some tests may be covered by insurance but others may not.

By Andrea Cohen, Tests.com Contributing Writer

Neonatal screening tests are also known as newborn or infant screening tests. Neonatal screening tests are usually performed shortly after a child is born to identify possible disorders or diseases. These screening tests look for serious disorders that may be developmental, metabolic or genetic in nature. The neonatal screening tests performed on a newborn infant are regulated by each state and vary accordingly.

Neonatal screening tests are done so that if a potential problem is identified immediately, more extensive testing can be done to determine if a problem does indeed exist, and if so, what the severity of the problem is and possible treatment. In many cases, neonatal screening tests can save a child’s life or vastly improve their quality of life by allowing treatment to occur long before it would otherwise.

Each state in the US regulates the neonatal screening tests that should be performed on infants born within the state. Most states require between three and eight tests to screen for various disorders. The three tests that every state requires are screening tests for phenylketonuria (PKU), congenital hypothyroidism and galactosemia. Other tests differ by state. There are over 40 neonatal screening tests available for various disorders. The March of Dimes recommends that infants be screened for at least the 29 disorders for which there are effective treatments, but this is not usually done.

Neonatal screening tests are used as determinants of whether an infant requires additional testing to rule out or confirm a specific disorder. It is not meant to diagnose the condition, but rather just to identify those children that may possibly be at risk and that should undergo additional testing. It is important to offer neonatal screening tests because when certain conditions are identified early, appropriate treatment can begin right away resulting in a more positive outcome. Not every disorder or condition can be treated, but for those that can, beginning treatment as soon as possible is the best course of action. Even for those disorders that cannot be treated, identifying disorders early can save an infant’s life.

Most screening tests are performed by taking a small blood sample from a baby’s heel and sending it to a lab for analysis. The test is practically painless, quick and poses little to no risks. If a hearing test is included within the newborn screening, an audiologist places a small earpiece or microphone in a newborn’s ear and gauges whether there is any reaction to sound. Sometimes electrodes are placed on the baby’s head instead of the earpiece. Neonatal screening tests are usually performed before a baby leaves the hospital.

Types of Screening Tests

There are numerous screening tests available for infants, although not all are required by states or performed on every infant. The available screening tests include:

Amino Acid Metabolism Disorders (including Arginosuccinic Academia, Citrullinemia, Homocystinuria, Maple Syrup Urine Disease, Phenylketonuria (PKU),and Tyrosinemia Type I)
Biotinidase Deficiency
Congenital Adrenal Hyperplasia
Congenital Hypothyroidism
Cystic Fibrosis
Fatty Acid Metabolism Disorders (including Carnitine Uptake Deficiency, Long-chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, Trifunctional Protein Deficiency, and Very Long-chain Aacyl-CoA Dehydrogenase Deficiency (VLCAD) )
Galactosemia
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
Hearing Problems
Human Immunodeficiency Disease (HIV)
Organic Acid Metabolism Disorders (including 3-Hydroxy-3-Methylglutaric Aciduria (HMG), 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC), Beta Ketothiolase Deficiency, Glutaric Acidemia Type I, Isovaleric Academia, Methylmalonic Acidemia, Multiple Carboxylase Deficiency (MCD), and Propionic Acidemia)
Sickle Cell Disease - and other Hemoglobinopathy Disorders and traits
Toxoplasmosis

Most neonatal screening tests are performed within a hospital between the time an infant is born and they leave the hospital (usually between one to seven days). Since states do not require all screening tests and hospitals may not be willing to perform tests that are not mandated by the state, parents can choose to have additional neonatal screening tests performed elsewhere. These tests are usually done at a private laboratory or at the pediatrician’s office where the results are then sent on to a laboratory for analysis. To find out about all types of neonatal screening tests, parents can contact the March of Dimes for more information. To find out what neonatal screening tests are performed where you live, parents can contact their state health department, health care provider or local hospital.

The cost of neonatal screening tests varies by the type of test and the location that offers the test. Some screening tests may be covered by medical insurance and others may require an out of pocket expense. Parents should check with their medical insurance company, if they have insurance, to see what tests are covered.

Interested in finding out more about Neonatal Screening Tests? Read our interview with Brad Therrell, neonatal screening test expert.