What genetic testing is mandatory for newborns in California?
The Newborn Screening Program was established by the California Department of Health Services Genetic Disease Branch to provide newborn screening for all babies born in California. The state of California began this screening program in 1966 with testing for a single disease, phenylketonuria (PKU).
What screenings are done on newborns?
Newborn screening tests may include:
- Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine.
- Congenital hypothyroidism.
- Galactosemia.
- Sickle cell disease.
- Maple syrup urine disease.
- Homocystinuria.
- Biotinidase deficiency.
- Congenital adrenal hyperplasia.
In what year did California start its newborn screening program?
Newborn screening began in California in 1966 with screening for one disorder, phenylketonuria (PKU). The Program has expanded and now includes 80 different genetic and congenital disorders. The goal of the program is to identify babies with these disorders early, so that treatment can be started right away.
What genetic testing is mandatory in California?
The Prenatal Screening Program provides pregnant women with a risk assessment for open neural tube defects (NTD), abdominal wall defects (AWD), Down syndrome (trisomy 21), Trisomy 18 and SLOS (Smith-Lemli-Opitz Syndrome) through one or two blood tests.
Can parents refuse newborn screening in California?
To ensure the health of all newborns, it’s California state law that all babies born in the state have the Newborn Screening Test completed. The test can only be refused if it conflicts with your religious beliefs.
Is newborn hearing screening mandatory in California?
The law requires hearing screening on no fewer than 95% of all newborn infants born in hospitals and requires hospitals and physicians to educate parents on the importance of screening and follow-up care.
What is G6PD in newborn screening?
Glucose-6-phosphate dehydrogenase, or G6PD, is an enzyme in the body that helps protect red blood cells from injury. When an individual suffers from G6PD deficiency, a genetic disease, he or she fails to make an adequate amount of this enzyme, thereby putting red blood cells in danger of cell death (1).
How accurate is newborn screening?
The PPVs, however, range from 0.5% to 6.0%. Consequently, on average, there are more than 50 false-positive results for every true-positive result identified through newborn screening in the United States.
Is newborn screening mandatory in California?
How many conditions is a newborn baby in California screened for?
When a baby is between 12 and 48 hours of age, a nurse takes a few drops of blood from the baby’s heel and places it on special paper. The blood is then sent to a state-approved lab where it’s screened for over 80 genetic and metabolic disorders that can lead to severe intellectual and physical disabilities.
How do I get my newborn screening results in California?
How Can I Get The Results? You can get your baby’s test results from your doctor or clinic. If your doctor does not have the results, he/she can contact the Newborn Screening Program to request a copy. When your baby has the test done, the hospital staff will give you the pink and blue copies of the test request form.