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JAMA Pediatrics Patient Page
June 2016

Newborn Screening

JAMA Pediatr. 2016;170(6):628. doi:10.1001/jamapediatrics.2015.2519

Newborn screening refers to the process of taking a blood sample from a newborn baby and testing the sample to identify specific illnesses or conditions.

The illnesses that are tested for in newborn screening are genetic, metabolic, or endocrine disorders. The specific conditions included in a newborn screening test are typically illnesses that are serious and rare and may not have symptoms right away. The purpose of testing is to identify these illnesses early before the baby develops symptoms and becomes sick and to treat the disease so that the baby remains healthy.

The blood sample for newborn screening is taken from the baby’s heel. The baby’s heel is poked to draw out a few drops of blood, which are then put onto a card. Because only a few drops of blood are involved, this is sometimes called bloodspot screening. The test is usually done twice, once before the baby leaves the hospital after being born and then a second time in your baby’s physician’s office in the first 2 weeks of life.

Newborn screening includes more than 30 illnesses and conditions; different states test for different illnesses. Each year, almost all of the 4 million babies born in the United States experience newborn screening. Of these babies who undergo screening, about 4000 will test positive for a condition. Parents and the baby’s physician are notified about the test results if they are positive.

Parents are valuable partners in newborn screening efforts, and education about newborn screening is important for parents. Most parents are provided information about newborn screening after their baby is born. An article in this issue of JAMA Pediatrics describes a research study that was conducted to test an earlier education program for parents about newborn screening. In the research study, parents were provided education about newborn screening during pregnancy. The study results showed that parents who had been provided with education about newborn screening were more knowledgeable, more satisfied with the newborn screening process, and more supportive of the process compared with parents who did not have this education. This study shows that newborn screening education is helpful for parents and valuable to have during pregnancy. Parents should feel comfortable asking their pediatrician, family physician, or OB/GYN about newborn screening.

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The JAMA Pediatrics Patient Page is a public service of JAMA Pediatrics. The information and recommendations appearing on this page are appropriate in most instances, but they are not a substitute for medical diagnosis. For specific information concerning your child’s medical condition, JAMA Pediatrics suggests that you consult your child’s physician. This page may be photocopied noncommercially by physicians and other health care professionals to share with patients. To purchase bulk reprints, call 312/464-0776.
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