What is Neonatal Screening?

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  • Written By: Malcolm Tatum
  • Edited By: Bronwyn Harris
  • Last Modified Date: 29 September 2019
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Also known as newborn screening, neonatal screening is the collective process of testing newborns for various types of diseases. The scope of the screening addresses a wide range of conditions, including hematologic, metabolic, endocrinologic, and genetic diseases. Over the years, the types of screening tests utilized in this type of health care for newborns has expanded significantly, with some variance in how health systems in different countries approach this form of neonatal care.

Depending on the requirements put in place within a given nation, the process of neonatal screening may be mandatory. This means that the tests are conducted as a matter of routine. The idea behind the screening is to identify any potential health issues that would significantly impact the health of the newborn, and make it possible to begin administering appropriate treatment immediately. This helps to avoid a possible delay in diagnosing a serious health condition, while increasing the chances of being able to successfully treat the disease before it has the chance to advance.


The first mandatory neonatal screening in the United States was initiated during the decade of the 1960’s. Known as the Guthrie test, this test was designed to detect the presence of phenylketonuria in children. Over the years, other tests have been added to the list, including tests for the presence of sickle-cell disease, hypothyroidism, and hyperplasia. Testing on vision, hearing acuity, and general range of movement for the newborn is also part of the basic neonatal screening in the USA.

While many countries have national regulations that lay the groundwork for neonatal screening, it is not unusual for state level health organizations to oversee the screening process at health care facilities in their jurisdictions. Local laws also sometimes mandate the exact procedures for collecting samples and submitting them to approved labs for evaluation. This helps to ensure that the quality of the testing is uniform, and that the results from the different tests can be considered reliable.

Not all countries engage in neonatal screening, but interest in initiating this type of newborn care has continued to grow since the beginning of the 21st century. Some countries currently have optional screening programs, while others are moving toward mandatory screening for specific health issues at some point during the first six months of the child’s life. As medical research continues to develop newer and more effective ways of detecting all sorts of diseases in their early stages, it is highly likely that neonatal screening will become more common around the world.


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