Newborn Screening F.A.Q. Sheet
Contact Information
- NBS general information: Kathy Tomashitis, MNS, RD, LD, 803-898-0619, tomashkf@dhec.sc.gov
- NBS laboratory information: John Reddic, PhD, 803-896-9725, reddicje@dhec.sc.gov
- NBS infant results: Linda Baker, 803-898-0593, bakerlb@dhec.sc.gov
How long has DHEC done this testing?
Testing for phenylketonuria (PKU) began in 1965. A 1976 law made testing mandatory unless parents had religious objections. The other tests were recommended by the Newborn Screening Advisory Committee and approved by the DHEC board.
What diseases are screened?
The SC newborn screening panel includes all 28 core metabolic conditions that are recommended by the March of Dimes and the Americal College of Medical Genetics. In addition it also includes screening for 24 secondary metabolic conditions that can cause severe problems if not found very early in life. The most common conditions are described below.
Phenylketonuria is an error in amino acid metabolism resulting in profound mental retardation. The consequences can be avoided by very early detection and a diet low in the amino acid phenylalanine. About three cases a year are detected. Testing can also identify infants with other amino acid metabolism disorders as well as infants with certain organic acid metabolism disorders.
Congenital Hypothyroidism results from the lack of thyroid hormone leading to mental retardation and slow growth. If detected early, thyroid hormone can be given and the consequences reduced or eliminated. About 10 to 15 babies are born each year with primary congenital hypothyroidism.
Hemoglobinopathy (Sickle Cell Disease) patients may have impaired oxygen transfer ability and may have many painful and life-threatening conditions, some of which can be prevented through early diagnosis and monitoring. About 100 babies a year are born with hemoglobinopathy disorders including sickle cell disease while another 2,400 are born as carriers.
Galactosemia is caused by an inability to metabolize galactose, a component of lactose found in milk and other foods. Serious gastrointestinal disturbances, failure to gain weight and jaundice may occur. Children with untreated galactosemia develop mental retardation, cataracts and speech delay. Some infants die in the early neonatal period from bacterial sepsis. If detected early, diets low in galactose can minimize the effects of the condition. About one baby a year is born with this condition.
Congenital adrenal hyperplasia is an enzyme defect that affects the functioning of the adrenal gland with the overproduction of testosterone. If untreated, females are virilized (made masculine). Children with CAH may begin puberty at 3-5 years of age. In some cases, the child may experience dehydration, shock and death. Administration of adrenal hormones can prevent some serious consequences. About three babies a year are born with this condition.
Medium chain acyl-CoA dehydrogenase deficiency causes an error in fatty acid metabolism resulting in a child's blood sugar becoming dangerously low. About 20 percent of children with MCADD die before diagnosis if screening is not in place and those who survive may have serious residual effects. If detected early, the condition can be treated by making sure the patient gets enough carbohydrate, especially during illness or other stressful times. About four babies a year are born with this condition. Testing can also idenify infants with other fatty acid metabolism disorders.
Biotinidase deficiency causes a baby to have difficulty using biotin, a vitamin that is found in foods, including breast milk and infant formula. Without biotin, the baby will not grow and develop properly. He or she may have seizures, hearing loss and skin problems. About one baby a year is born with this disorder.
Cystic fibrosis is a genetic disorder that is detected in 10 to 15 babies born in SC each year. When a baby has CF, some fluids in the body that should be thin and slippery are thick and sticky. These fluids can plug up some of the “tubes” or “channels” in the body. This affects the lungs and digestive system the most. Babies with CF often cough or wheeze and can get lung infections that need treatment with strong drugs. They also may not digest their food well, often in spite of a huge appetite. Poor digestion can cause diarrhea and poor growth. Babies found through screening often have not yet started to show much of these problems or to “act sick”.
Do parents sign a consent form?
There is no DHEC consent form for newborn screening. The DHEC Newborn Screening Manual; Law, Regulations, and Official Departmental Instructions states, "The provision of the screening test is covered under the informed consent signed by the parents at the hospital." Parents may refuse the tests only on religious objections.
Do parents get any information in advance?
The regulations require hospital staff to provide information about the testing. The hospital may give the parents a pamphlet with information about the testing.
How long does it take to do the testing?
On average, testing is completed three working days after the specimen arrives in DHEC’s laboratory. If the results indicate a high likelihood that the infant has a newborn screening disorder, the physician of record is notified by phone by staff in the Division of Women and Children’s Services. If the results are less definite but still abnormal, the physician will be notified by mail. The laboratory needs to keep the specimens, which are blood spots, long enough to complete testing and allow for requests for routine additional tests or repeats.
What happens to the information?
Results are sent to the hospital or mid-wife and to the physician of record. Abnormal results are also immediately sent to DHEC’s Division of Women and Children’s Services for follow-up. The results from children with sickle-cell trait (carriers of sickle cell) are sent by the Laboratory to regional sickle-cell centers for counseling and follow-up.
Why does DHEC keep the cards?
State law requires the cards be stored, frozen at minus 20 degrees Centigrade. Unless parents object, the blood spot specimens may be released for confidential anonymous study. Any research study must go through a rigorous approval process before blood spot specimens are released. Researchers will not know which baby the blood spot specimen came from. However, DHEC will know which baby the blood spot specimen came from and if researchers find out information that will help a baby, DHEC will notify the parents of the baby. We also must comply with federal licensing (CLIA) regulations, which directs that all test request forms be kept for at least two years. In the case of the newborn screening, the blood spot specimen is an integral part of the request form.
Where does DHEC store the cards?
Cards are stored in the Hayne Building, in a locked freezer.
Who has access to the information?
In DHEC’s Hayne Building, only staff members with direct access to the freezer.
Does DHEC do any DNA-based newborn screening or store purified DNA?
No. DHEC does no DNA-based (gene) newborn screening. The DNA is stored only because DNA is present in the blood cells. No purified DNA is stored. The information from the blood spots can be released only to the parents of the child, the child’s doctor and to the child, once he or she reaches the age of 18.