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Maryland to screen newborns for more rare, inherited disorders

Newborns in Maryland will now be screened for four more conditions, bringing the total to 61, in an effort to begin treatment earlier for the rare, inherited disorders.

The state is now among the top five nationally for the size of its testing panel, according to the state Department of Health.


A few drops are taken from a baby’s heel and sent to a state laboratory and screened for anything out of the normal range.

The testing is considered a public health success because fewer disorders go undiagnosed and babies get care earlier. The disorders generally have some kind of treatment for symptoms.


Still, screening has occasionally sparked controversy in some states as some parents fretted about what happened to leftover blood. A 2011 Johns Hopkins study found that parents weren’t always properly informed when they consented to tests.

Typically, states keep the samples for years and many including Maryland sometimes allow scientists access to unidentified blood for research on genetic disorders.

The new disorders included in the panel in Maryland are Pompe disease, Fabry disease, Mucopolysaccharidosis type I (MPS I) and Spinal Muscular Atrophy (SMA).

About 78,000 babies were screened in Maryland in the year ending in May, and conditions were identified in 240 newborns.