Master's in Genetic Counseling (MGC)

Introduction

This site has been developed to serve as a concise reference for primary care physicians and others involved in the management of patients following newborn screening. Its purpose is to provide information on the appropriate counseling for families, along with the correct methods of laboratory follow up for an abnormal newborn screening result. References are available that will provide additional information on the disorders and testing procedures required for a definitive diagnosis.

The practice of screening newborns for inborn errors of metabolism began in the early 1960’s with the development of the Guthrie test to screen for phenylketonuria (PKU). In this test, blood, taken through a heel stick of a newborn, is absorbed onto piece of filter paper, and the level of phenylalanine is determined by a bacterial inhibition assay. Since that time, additional tests that can be performed on the same specimen have been developed for a variety of other disorders. Therefore, although the newborn screening panel is historically called the "PKU test", it is more appropriately referred to as the "newborn screen".

The purpose of newborn screening is to identify infants at risk for disorders which, if left untreated, may result in mental retardation and/or other disabilities. As with any screening test, both false positive and false negative results can occur. The results of screening tests do not establish a diagnosis, but rather serve to identify a subset of patients who warrant further testing. It is important to appropriately follow-up on abnormal screening results, as early diagnosis and treatment can often result in normal growth and development and/or significantly reduce morbidity and mortality.

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