Wisconsin First State in Nation to Screen All Newborns for Severe Combined Immune Deficiency (SCID) or "Bubble Boy Disease"
MADISON – On January 1, 2008, Wisconsin became the first state to screen all newborns for Severe Combined Immune Deficiency (SCID). Babies born with SCID, sometimes known as "Bubble Boy Disease," have a defect in both T-cell and B-cell production. The disorder is severe and usually fatal without early diagnosis and treatment. Until recently there was no cure for SCID; however, recent advances in bone marrow transplantation have proven very effective, and the success rate could reach up to 95% when transplants are done in the first 3 months of life.
The Wisconsin Department of Health and Family Services (DHFS), acting upon the recommendation of the Newborn Screening Umbrella Advisory Committee, has approved adding SCID to the Wisconsin newborn screening panel. With the addition of SCID, Wisconsin now screens approximately 70,000 newborns annually for 48 genetic disorders, including hearing loss (which is not mandated). These tests include all 29 of the core panel of tests recommended by the American College of Medical Genetics Newborn Screening Expert Group in 2006 (http://www.acmg.net/resources/policies/NBS/NBS-sections.htm).
The pilot program to develop an effective and efficient newborn screening test for SCID began 1 year ago as a funding and scientific collaborative effort between the Wisconsin State Laboratory of Hygiene (WSLH) at the University of Wisconsin-Madison, which performs all newborn screening testing in the state, the Children's Hospital of Wisconsin (CHW) in Milwaukee, and the Jeffrey Modell Foundation, which focuses on prevention of primary immunodeficiency diseases.
During the pilot, scientists at CHW and the WSLH (Dr. Mei Baker – WSLH, Dr. Jack Routes – CHW, and Dr. William Grossman – CHW) developed a testing method based on measurement of T-cell receptor excision circles (TRECs) by real-time polymerase chain reaction (PCR) technology using DNA extracted from newborn screening specimens (i.e., dried blood spots). TRECs are by-products generated during T-cell maturation and are consistently absent, or present in low numbers, in newborns with SCID. The procedure was tested on 10,000 residual de-identified blood specimens from Wisconsin's nationally recognized newborn screening program.
On February 18, 2008, the WSLH began reporting SCID results on the newborn screening report form. The current amount of blood collected for newborn screening is also sufficient to perform the SCID testing. Physician consultants are available to Wisconsin physicians whose patients receive a “Possible Abnormal SCID (Immunodeficiencies) Report” form.
As with all disorders screened on the Wisconsin newborn screening panel, the benefits of testing for SCID will be evaluated over time.
For more information on the Wisconsin newborn screening program, please visit our web site, including the “Health Care Professional’s Guide to Newborn Screening”. A downloadable PDF version is available on the web site.
Watch Dr. Mei Baker’s University of Wisconsin-Madison Population Health Seminar on Universal Newborn Screening for Severe Combined Immunodeficiency (SCID) by Quantitating T Cell Receptor Excision Circles (TRECs).
Posted By: Jan Klawitter, WSLH Public Affairs and Training Manager
Date: April 2, 2008
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