Background and Information
It is the policy of the California Department of Public Health (CDPH or Department), to make every effort to detect, as early as possible, heritable disorders leading to possible developmental delay, morbidity and mortality. Regulations provide for newborn screening (NBS) of each child born in California for phenylketonuria (PKU), galactosemia, primary congenital hypothyroidism, sickling hemoglobinopathies, cystic fibrosis, biotinidase deficiency, congenital adrenal hyperplasia and numerous other disorders. Approximately 500,000 newborns are tested yearly for these genetic diseases by contract laboratories in California. CDPH also provides a prenatal screening (PNS) program to determine the levels of alpha-fetoprotein (AFP), human chorionic gonadotropin (HCG) and unconjugated estriol (uE3), inhibin and pregnancy-associated plasma protein A (PAPP-A) in serum of pregnant women to detect neural tube defects, trisomy 21 (Down syndrome) and other chromosomal abnormalities. Prenatal screening (PNS) is performed by the same contract laboratories which provide newborn screening. These laboratories are called Newborn and Prenatal Screening (NAPS) Laboratories.
Contractor screening for these rare disorders is accomplished most efficiently and at the lowest cost by large scale testing by a small number of laboratories. NBS in California encompasses screening approximately 500,000 newborns yearly using seven tests for each newborn, totaling more than three million individual tests. PNS in California currently encompasses screening the 1st and 2nd trimester specimens of approximately 400,000 pregnant women each year totaling nearly two million individual tests. GDSP has designed the Contractor programs to assure timely and accurate testing. NAPS laboratories provide seven-day-a-week operation including holidays with on-site Contractor supervisors.