New Jersey's Newborn Screening program is now testing all newborns - approximately 100,000 annually - for 55 genetic and biochemical disorders with the addition this week of screening for a rare genetic disease called Severe Combined Immunodeficiency (SCID).
SCID is named after David Vetter, who lived his entire life in a plastic, germ-free bubble and died in 1984 at the age of 12. SCID is a deficiency of the immune system which occurs in about one in every 70,000 to 100,000 births-including one or two in New Jersey each year. It is treatable.
"Adding this important screening test will save the lives of babies born each year with this serious immune-deficiency," said Health Commissioner Mary E. O'Dowd. "The expansion of our comprehensive Newborn Screening Program will continue to improve the quality of life for families in New Jersey."
New Jersey is now the 19th state to require screening for SCID, according to the Association of Public Health Laboratories' Newborn Screening Technical assistance and Evaluation Program (New STEPs).
Babies with SCID have a defect in their B-cells and T-cells, which are white blood cells that fight infections. Without these special cells, babies appear healthy at birth but are much more susceptible to illness. Without treatment, most children with SCID die of infections before the age of two. However, with early detection and treatment - which is usually a bone marrow transplant - the survival rate is high. Six to seven babies each year will be identified with other serious immune system disorders and will also benefit from early detection and treatment as a result of the added test.
New Jersey began screening newborns for genetic and biochemical disorders in 1964. Over the past 50 years, New Jersey has identified more than 6,290 with a newborn screening disorder. New Jersey also requires newborn infants to be screened for hearing loss and critical congenital heart defects (CCHD). Between 2002 and 2011, hearing loss was detected in 1,106 babies who did not pass their newborn hearing screening. In addition, three infants with previously unsuspected critical congenital heart defects were detected in the first nine months after implementing the new CCHD screening program in 2011.
In New Jersey, the Department of Health's Public Health and Environmental Laboratories provides testing for specimens sent from the state's birthing hospitals, usually within 48 hours of a baby's birth. If testing identifies a possible abnormality, staff in the Department's Division of Family Health Services work with physicians to ensure that families are informed about the abnormal result and connected with the appropriate medical specialists.
