Thursday, October 23, 2014

New Newborn Screening Test IDs Rare, Sometimes Fatal Condition in Utah Baby

(Salt Lake City, UT) – Jody Bell and Logan Hauenstein are hoping they can bring their newborn infant home by Christmas. Their daughter, now 6 weeks old, was diagnosed with Severe Combined Immunodeficiency (SCID) through the Utah Newborn Screening Program. Babies with SCID appear normal at birth but cannot fight infections and may die within the first year of life without treatment. If SCID is diagnosed early, before the onset of infections, a bone marrow transplant can successfully treat the disorder and with fewer complications.

Prior to newborn screening, infants with SCID with no family history of the disease had been diagnosed only after developing serious infections. Currently, 23 states have adopted the T-cell receptor excision circle (TREC) assay as part of their routine newborn screening programs. Utah began screening for SCID on July 1, 2013 and has screened approximately 61,000 newborns for SCID to date. The prevalence of SCID was thought to be 1:100,000; however, through newborn screening, more children are being diagnosed and the prevalence appears to be closer to 1:50,000.

The absence of T-cells and antibody immunity prevents infants from being able to fight severe infections; they develop diarrhea and failure to thrive. These were the problems that brought infants with SCID to medical attention before screening was implemented.

Population-based newborn screening is different from diagnostic testing done by providers confronted with a known or suspected disorder in their practice. Screening tests are performed on a large scale in centralized state public health laboratories that use blood from a heel stick that is spotted onto filter paper and dried, as first developed in 1963 by Robert Guthrie for population-
based testing of newborns for phenylketonuria. These dried blood spots (DBS) can be handled by

automated testing and tracking methods, enabling state laboratories to run thousands of samples at a time. Including SCID, there are 38 disorders on the Utah’s Newborn Screening Panel. A rigorous review is performed prior to the addition of a disorder. These disorders, as with SCID, allow for early diagnosis, treatment and successful outcomes.

For SCID, it is important to have an early diagnosis in order to avoid contact with non-family members and reduce the chances of an infection. Even something as simple as a cold can be devastating for these infants.

As for Jody and Logan, their daughter has been in isolation at Primary Children’s Hospital since she was only a few days old, awaiting a bone marrow transplant. Neither parent was a match for their daughter, but an anonymous donor who does match is ready to donate when physicians give the go-ahead. In addition to getting all babies’ newborn screens completed, Jody and Logan encourage everyone to register on the Be the Match donor website for others who may be in need of a transplant.

Note: The family, medical providers and newborn screening program staff will be available to answer questions Thursday, October 23, 2014 from 2:00-2:30 PM at the Utah Department of Health CSCHN Building, 44 Mario Capecchi Drive, Salt Lake City, Utah.

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Media Contacts
Cyndi Bemis
Office of Public Information and Marketing
(o) 801-538-6348 (m) 801-538-6348
Kim Hart
Newborn Screening Program