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Frequently Asked Questions: Newborn Metabolic Screening

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: Nancy Giurato, PhD, 803-896-9725, giuratnl@dhec.sc.gov; Sandi Hall, MT (ASCP), 803-896-0891, halls@dhec.sc.gov   
  • NBS follow up information: Dana Smith, RN, 803-898-0593, smithdm@dhec.sc.gov; Jennifer Schlub, RD, LDN, 803-898-1969, schlubjk@dhec.sc.gov
  • NBS test results: Medical providers should send a fax to 803-898-0337 including the baby's complete name, the mother's complete name and the baby's date of birth.

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 agency.

What diseases are on the test panel?

The SC newborn screening panel includes 30 core metabolic and genetic conditions that are on the Recommended Uniform Screening Panel approved by the Advisory Committee on Heritable Disorders in Newborns and Children, US Department of Health and Human Services. In addition it also includes screening for 22 secondary metabolic and genetic 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 babies with PKU are detected each year. Testing can also identify babies with other amino acid metabolism disorders as well as babies with certain organic acid metabolism disorders.

Primary 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 20 babies are found each year with primary congenital hypothyroidism.

Persons with Hemoglobinopathies (like Sickle Cell Disease) may have impaired oxygen transfer ability and many painful and life-threatening conditions, some of which can be prevented through early diagnosis and monitoring. About 100 babies a year are identified with hemoglobinopathy disorders including sickle cell disease while another 2,400 are identified 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 babies 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. Other, less severe forms of galactosemia can also be found through this testing. In SC, around 10 babies are found with less severe forms of galactosemia each year.

Congenital adrenal hyperplasia is an enzyme defect that affects the functioning of the adrenal gland with the overproduction of testosterone. 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 identified 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 health problems. If detected early, the condition can be treated by making sure the child gets enough carbohydrate, especially during illness or other stressful times. About four babies a year are found with this condition. Testing can also identify babies 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 baby 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 found 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 slow growth. Babies found through screening often have not yet started to show much of these problems or to "act sick".

Severe Combined Immunodeficiency (SCID) and related disorders involve the immune system. Babies with SCID are not able to fight infection due to malfunction of their immune system. Although babies with SCID can appear healthy at birth, they can become sick very quickly from common illnesses like a cold or stomach virus. Some babies with SCID need a bone marrow transplant while less severe forms of these disorders can be treated with special medicines. About one baby a year is found with the form of SCID that requires bone marrow transplant.

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 regulation requires hospital staff to provide information about the testing. The hospital may give the parents a pamphlet with information about the testing.

What happens to the information?

Test results are sent to the hospital where the baby was born and to the physician of record. If the baby was not born in a hospital, the test results are sent to the midwife who delivered the baby. Abnormal results are also sent to DHEC's Division of Children's Health for follow-up.

What happens to the blood specimens after laboratory testing is completed?

The laboratory will destroy the residual blood specimens once they are no longer needed for newborn screening purposes.

To view the brochure that is given to all parents at the time of the baby's birth, download the  English or Spanish. (pdf)