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Newborn Screening Program


The Newborn Screening Area Service Center
(NBS ASC) at Children’s Hospital works to protect and improve the health of all babies born in California. Under the auspices of the Genetic Disease Branch (GDB) of the California Department of Health Services, The California Newborn Screening Program provides cost effective testing and follow-up, permitting early diagnosis of four congenital disorders, thereby minimizing or preventing adverse outcomes or other serious long term disabilities.

Newborn Screening is recognized nationally as an essential preventive public health measure. All states in the nation and the District of Columbia have established newborn screening programs. The State of California began its Newborn Screening Program in 1966 with the testing for phenylketonuria (PKU). In October 1980, the program was expanded to include galactosemia, primary congenital hypothyroidism, and a more comprehensive follow-up system. In 1990, screening for sickle cell disease was added to the State’s existing program. This also allowed for the identification of some of the related non-sickling hemoglobin disorders, including beta thalassemia major, and Hb E-Beta Thalassemia. In 1999, the Program implemented screening for hemoglobin H and hemoglobin H - Constant Spring disease.

About Newborn Screening

  • Fewer than 10% of babies born in the US currently get comprehensive screening for all metabolic, endocrine and hematologic disorders already detectable through existing routine newborn screening programs.
  • Six babies are born every day in the US alone that have disorders detectable through newborn screening, but go undetected because they aren't screened.
  • Newborn screening can detect more than 35 disorders.
  • Most disorders detectable through newborn screening are treated by diet restrictions.
  • Over 99% of the babies born in California are screened. The actual sample of newborn blood is obtained before the sixth day of life by a heel-stick. To decrease the chances of a false positive (requiring additional testing) or false negative (resulting in a missed case), the NBS Program requires that babies be screened when they are at least 12 hours of age.

Newborn Screening Team

Our staff consists of the RN project director, RN coordinators, a community liaison, and administrative support. Our medical director is Susan Winter, M.D., a Pediatric Medicine and Metabolic Geneticist.

Newborn Screening Services

The seven NBS ASCs across the state are designated and funded by the California Department of Health Services to provide:

  • Reporting to primary care providers and assuring follow-up of all screening referrals: inadequate specimens, positive results, untested newborns, and those who are screened too early.
  • Consultation and technical assistance to all Program participants (i.e., hospitals, physicians, public health departments, etc)
  • Training and educational activities to all participants and the community.
  • Monitoring NBS providers for compliance with state newborn screening regulations and guidelines.
  • The California Newborn Screening Program screens for several diseases, including Classical PKU, Galactosemia, Primary Congenital Hypothyroidism, and Sickle Cell Disease and other Hemoglobinopathies.

Newborn Screening Resources

California Screening Site
Home page for the California Department of Health Service's Newborn Screening Program.

Expanded Newborn Screening Program Links:

Pediatrix
This newborn screening laboratory provides comprehensive programs for clinically significant metabolic disorders throughout the world.

Baylor University
Baylor offers comprehensive testing, interpretation of test results, consultation, research information, and any necessary referrals to specialized laboratories for metabolic services, physicians or support groups.

Mayo Clinic
Provides screening blood tests on newborns that can identify metabolic and endocrine disorders before symptoms ever appear. Learn more about these tests, which can mean the difference between severe health problems and healthy, normal development for your newborn.

Other Resources:

American Sickle Cell Association - one of the oldest sickle cell research, education, and social services organization in the United States.

Biotinidase Deficiency Family Support Group - devoted to supporting those effected by biotinidase deficiency

CARES Foundation (CAH)  - purpose is to educate the public and physicians about all forms of Congenital Adrenal Hyperplasia, its symptoms, diagnostic protocols, treatment, genetic frequency, the necessity for early intervention, and benefits of newborn screening.

Children's PKU Network  - addresses the special needs and concerns of individuals with PKU and their families.

Cochrane Cystic Fibrosis & Genetic Disorders Group - international network of health care professionals, researchers, and consumers preparing, maintaining, and disseminating systematic reviews of randomized control trials in the treatment of cystic fibrosis and other genetic disorders.

Cystic Fibrosis Foundation  - The mission of the Cystic Fibrosis Foundation is to assure
the development of the means to cure and control cystic fibrosis and to improve the quality of life for those with the disease.

Fatty Oxidation Disorder Family Support Group  - resource for families, friends, doctors, researchers, and others who would like to support, educate, and provide a forum for the sharing of ideas and concerns for those whose lives have been touched by a Fatty Oxidation Disorder.

National Healthy Mothers, Healthy Babies Coalition (HMHB) - A recognized leader and resource in maternal and child health.

MSUD Family Support Group - dedicated to: Providing opportunities for support and personal contact for those with MSUD and their families, distributing information and raising public awareness of MSUD, strengthening the liaison between families and professionals, encouraging newborn screening programs, and research for MSUD.

National Urea Cycle Disorders Foundation  - links families, friends and professionals who are dedicated to the identification, treatment and cure of urea cycle disorders.

Organic Acidemia Association  - providing information and support to families of children with inborn errors of metabolism.

Gene Gateway - Introduces various Internet tools that anyone can use to investigate genetic disorders, chromosomes, genome maps, genes, sequence data, genetic variants, and molecular structures.

Parents of Galactosemic Children - provide information, support, and networking opportunities to families affected by galactosemia.

Save Babies - Newborn Screening Saves Babies One foot at a time, helps raise awareness of newborn screening issues

United Mitochondrial Disease Foundation - promote research for cures and treatments of mitochondrial disorders and to provide support to affected individuals and families.

Newborn Screening Innovations

Very early detection permits the metabolic disorders PKU and galactosemia to be treated with a diet, and hypothyroidism with thyroid hormones, thus preventing the development of mental retardation and other severe health problems. Detection of sickle cell disease in newborns makes possible early entry into comprehensive care, which includes the initiation penicillin prophylaxis and parent education, factors which have been shown to reduce morbidity and mortality. Early detection of thalassemia disorders allows for close monitoring for infections and anemia. Ongoing health care and close monitoring help children with hemoglobin disorders stay as healthy as possible.