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Screening Tests for Newborns

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Not everyone in this age group may need screening for every condition listed here. Click on the links above to read more about each condition and to determine if screening may be appropriate for you or your family member. You should discuss screening options with your health care practitioner.

Congenital and Genetic Disorders

Various conditions that may be present at birth (congenital) can affect the health and wellness of a newborn. Most of these conditions are rare, though some are more prevalent in certain families or ethnic groups. Disorders range from difficulties processing certain nutrients (metabolic), to problems with hormones (endocrine), to the production of abnormal forms of hemoglobin, the oxygen-carrying protein in red blood cells. Some of these conditions cannot be cured, but many can be managed so that the child can grow and live a relatively normal life.

Newborn screening tests help to identify potentially treatable or manageable congenital disorders within days of birth. Life-threatening health problems, mental retardation, and serious lifelong disabilities can be avoided or minimized if a condition is quickly identified and treated.

Newborns can be routinely screened for many of these disorders before leaving the hospital using a few drops of blood. Each state has its own newborn screening program, so the number of tests performed varies by state.

Screening tests recommended for all newborns
The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), part of the U.S. Department of Health and Human Services, recommends that all newborns be screened for 34 core disorders and 26 secondary disorders. The tests are organized into broad categories:

A table of the recommended tests, adapted from the SACHDNC web site, is available here.

For information on of the specific disorders, see the March of Dimes: Newborn screening tests for your baby page.

In the U.S., states regulate their newborn screening programs, so the number of screening tests performed varies from state to state. To see a list of newborn screening tests required or offered by state, see the National Newborn Screening and Genetics Resource Center.

Physicians and parents may request a "supplemental newborn screening" panel in addition to the state-required tests. At some hospitals, you can indicate your preference for this more extensive testing when you check in for the birth. Supplemental newborn screening tests can also be arranged, in advance of the birth, through one of several private laboratories offering this service.

Reminders to parents:

  • Parents should also be aware that special collection techniques are used with newborns to minimize discomfort during specimen collection. In most cases, all the tests can be done using just a few drops of blood obtained from a pricked heel. Requesting supplemental tests will usually not require extra heelsticks or blood from your newborn.
  • Newborn screening tests are usually performed within 24 to 48 hours of life. For some tests, such as phenylketonuria (PKU) and congenital hypothyroidism (CH), it is important that they not be run too soon after birth. They may not accurately reflect whether a disorder is present if performed within the first 24 hours of life. Since women and their newborns may be discharged within a day or two of the birth, it is possible that a newborn could be tested with a sample taken within those first 24 hours. Consequently, some states routinely recommend screening two times, once in the hospital and then about 2 weeks later. This second screen is done to maximize the accuracy of testing.
  • The time it takes for test results varies by program. Generally, newborn screening results will be available within 10 to 14 days from the time the sample was taken. Ask your healthcare practitioner about the results if you don't hear back to ensure that the tests were done and that results were normal. If the results indicate that further testing is needed, your baby's healthcare practitioner will notify you as soon as possible.
  • If your baby does need further testing, your healthcare practitioner or program coordinator will contact you and tell you what needs to be done next. Additional testing does not necessarily mean that your baby is sick, just that more tests are needed to ensure there is not a problem. If follow-up tests are needed, they should be done as soon as possible in case your baby does need prompt treatment.

Screening for inherited disorders in newborns at risk
Screening tests for certain inherited diseases that are not already covered by mandatory statewide screening may be requested based on family history or ethnic background. Testing typically involves detecting the specific gene mutation(s), or change in DNA, associated with a disorder that occurs frequently within a family or members of a specific ethnic group. Parents may decide to ask for supplemental tests for their newborn in these situations:

  • Family history: When parents are concerned that a certain disease runs in their families (e.g., Duchenne muscular dystrophy, fragile X syndrome, or other chromosomal abnormalities), they may request that their newborn be tested for the disease. While testing for cystic fibrosis may be ordered because of family history, for example, its frequency in the population at large means that testing is now recommended for all newborns. Every state's newborn screening program includes a test for CF, although the method used may vary, with some states performing only a test to determine the blood level of a chemical called immunoreactive trypsinogen (IRT) and others performing both an IRT and a DNA test to check for mutations or changes in the CF gene.
  • Ethnic group: When parents are concerned because a certain disorder is common among their ethnic groups (e.g., Tay-Sachs disease, thalassemia, sickle cell anemia, cystic fibrosis, or congenital adrenal hyperplasia (CAH)), they may request that their newborn be tested. Again, several of these disorders are already included in many states' newborn screening programs.
  • Other risks: Less frequently, some parents request that their newborn's DNA be tested to identify a condition or risk of developing a condition that may not become evident or have an effect until later in life (e.g., Huntington disease, type 1 diabetes, and some forms of breast, ovarian, and colon cancer). Some parents value the information and want to be on the lookout for improvements in diagnosis, prevention, and treatment.

In some cases, one or both of the parents can be tested before or during a pregnancy to determine if they are carriers of these gene-based disorders. Amniotic fluid can also sometimes be tested during the pregnancy. See the articles Pregnancy and Prenatal Testing and The Universe of Genetic Testing for more information.

Genetic tests can be run on blood, other types of body fluids, and tissues. For some conditions, chromosomes are examined for abnormalities; for other diseases, a single gene is analyzed. It should be noted that some genetic tests will identify a condition for which there is no treatment or cure and no changes can be made to improve the child's quality of life. The value of such test results is controversial.


Links
National Newborn Screening & Genetics Resource Center: Newborn Screening (Contains a table with each state's current requirements)

National Newborn Screening & Genetics Resource Center: Commercial and Non-profit Organizations Offering Expanded Newborn Screening Tests

STAR-G Project: Newborn Screening, Parent's Fact Sheets


Sources Used in Current Review

Newborn screening tests. KidsHealth. Available online at http://kidshealth.org/en/parents/newborn-screening-tests.html. Accessed April 2017.

Genetics and family history. Baby's First Test. Available online at http://www.babysfirsttest.org/newborn-screening/screening-community. Accessed April 2017.

(2015 March) Recommended uniform screening panel. Advisory Committee on Heritable Disorders in Newborns and Children. Available online at http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/. Accessed April 2017.

L., Kimberly. (Reviewed 2015 April 27). Newborn screening tests. MedlinePlus Medical Encyclopedia. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/007257.htm. Accessed April 2017.

(Reviewed 2016 February). Newborn screening tests. March of Dimes. Available online at http://www.marchofdimes.com/professionals/bringinghome_screening.html. Accessed April 2017.

(2016 November 1). Help me understand genetics: Newborn screening. Genetics Home Reference. Available online at https://ghr.nlm.nih.gov/primer#newbornscreening. Accessed April 2017.

(November 3, 2014) National Newborn Screening and Global Resource Center. Frequently Asked Questions About Newborn Bloodspot Screening. Available online at http://genes-r-us.uthscsa.edu/parentfaq.htm. Accessed April 2017.

(November 2013) American College of Obstetricians and Gynecologists. Frequently Asked Questions Pregnancy. Available online at http://www.acog.org/~/media/For%20Patients/faq093.pdf. Accessed April 2017.

(March 15, 2017) Texas Department of State Health Services. Newborn Screening - Frequently Asked Questions. Available online at https://www.dshs.texas.gov/lab/nbsFAQ.shtm. Accessed May 2017.

(February 21, 2014) Centers for Disease Control and Prevention. Newborn Screening Laboratory Bulletin. Available online at https://www.cdc.gov/nbslabbulletin/bulletin.html. Accessed May 2017.

Cystic Fibrosis Foundation. How Babies Are Screened in IRT-Only vs. IRT-DNA States. Available online at https://www.cff.org/What-is-CF/Testing/How-Babies-are-Screened-in-IRT-Only-vs--IRT-DNA-States/. Accessed May 2017.