In accordance with Chapter 24 of the Public Laws of 1988 (N.J.S.A. 26:2-110 and N.J.S.A. 26:2-111, New Jersey Administrative Code,Title 8, Department of Health and Senior Services, Chapter 18, Newborn Biochemical Screening Program), New Jersey has expanded its statewide system of newborn biochemical testing to include a total of 54 disorders, which, if not detected early, can cause severe health problems, mental retardation and even death.
New Jersey Newborn Biochemical Screening Program Disorders
Disorder Name
Abbreviation
Fatty Acid Oxidation Disorders
2,4-Dienoyl-CoA reductase deficiency
DERED
Carnitine palmitoyltransferase I deficiency
CPT I
Carnitine Palmitoyltransferase II deficiency
CPT II
Carnitine/acylcarnitine translocase deficiency
CACT
Carnitine uptake defect
CUD
Glutaric acidemia type II
GA II
Long chain 3-Hydroxyacyl-CoA dehydrogenase deficiency
Babies with abnormal screening results are aggressively followed by the Newborn Screening and Genetic Services Program in Special Child Health and Early Intervention Services to ensure that affected children and their families are linked with a primary care provider and the regional network of specialty care centers to receive timely and appropriate services.
Early identification of all disorders screened in the newborn period is only the first step in a successful newborn screening program. Additional resources and funding to ensure immediate access to confirmatory testing, follow-up, and assurance of appropriate and comprehensive treatment services are also required. Consultants have been identified to provide comprehensive services for the various disorders and state funding has been committed to provide a statewide safety net of pediatric metabolic treatment centers, cystic fibrosis care centers, sickle cell programs, endocrine specialists and regional biochemical genetics laboratories.
Additionally, affected children must be reported to the Special Child Health Services Registry which will further link the family to community-based, culturally competent, comprehensive case management and early intervention services.
If you have any questions or need additional information, please contact:
Lorraine Freed Garg, MD, MPH
E-mail:
Medical Director
Newborn Screening and Genetic Services Program
Special Child Health and Early Intervention Services
New Jersey Department of Health and Senior Services
P.O. Box 364, 6th floor
Trenton, New Jersey 08625-0364
(609) 984-0755
Scott M. Shone, Ph.D
E-mail:
Research Scientist 1/Operations Manager
Newborn Screening Laboratory
P.O. Box 371
Trenton, New Jersey 08625-0371
(609) 530-8371
