Abstract
The practice of newborn screening has been in place in the USA since the 1960s, with individual states initially screening for different numbers of disorders. In the early 2000s many efforts were made to standardize the various disorders being screened. Currently, there are at least 34 disorders that each state is mandated to include on their screening panel. Of those 34 disorders, the majority are inborn errors of metabolism (IEM) which include urea cycle disorders (UCD), citrullinemia (CIT) and argininosuccinic aciduria (ASA), as well as a number of fatty acid oxidation disorders. We present here four cases of infants who had critical newborn screens (NBS) in the Commonwealth of Virginia and underwent genetic testing because their clinical presentation and follow-up laboratory studies were not consistent with the disorder that was flagged by NBS. These newborns were found to be carriers for two different IEMs (in three cases) or compound heterozygotes (in one case). Currently no guidelines exist with respect to the appropriate way to manage these children who may or may not be symptomatic in the newborn period. We propose some general recommendations for management based on our experience with these four probands, and discuss the necessity for further conversation and collaboration between physicians encountering these not-so-infrequent presentations.
Highlights
Newborn screening (NBS) in the United States has been in place for over 50 years
Individual states were responsible for choosing the disorders they screened for until 2005, when the American College of Medical Genetics and Genomics (ACMGG) and the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children defined a recommended uniform screening panel (RUSP) that defines conditions that all screening programs should include [1,2,3]
We present four cases of infants who had critical NBSs and underwent genetic testing because their clinical presentation and follow-up studies were not consistent with the disorder flagged on the NBS
Summary
Newborn screening (NBS) in the United States has been in place for over 50 years. Individual states were responsible for choosing the disorders they screened for until 2005, when the American College of Medical Genetics and Genomics (ACMGG) and the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children defined a recommended uniform screening panel (RUSP) that defines conditions that all screening programs should include [1,2,3]. We present four cases of infants who had critical NBSs and underwent genetic testing because their clinical presentation and follow-up studies were not consistent with the disorder flagged on the NBS. Of these four cases, two of the newborns had critical newborn screens positive for CIT and were found to be carriers for two different IEMs. The other two newborns had critical newborn screens for different FAODs; one child was a carrier for two different FAODs and one child was a compound heterozygote for one FAOD with acylcarnitine levels on fibroblasts consistent with another FAOD. With the increasing use of universal carrier screening in the prenatal population, we may be faced with identifying more infants who are carriers of multiple IEMs and may or may not be symptomatic at birth
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