Frequently Asked Questions for Professionals - September 2006
Q. What is the newborn screening program?
A. The Texas Department of State Health Services Newborn Screening Program consists of testing, follow-up and case management. All babies born in Texas are required to have two rounds of screening tests for certain inheritable and other disorders. The Newborn Screening Program identifies those infants who have an abnormal screen at birth or shortly after birth. An abnormal laboratory result triggers follow-up and case management to ensure that the baby receives confirmatory testing and treatment, if needed. Early treatment can prevent serious complications such as growth problems, developmental delays, deafness or blindness, mental retardation, seizures or even early death.
Q. How are newborns tested?
A. A tiny amount of blood is taken from the baby’s heel about 24 hours to 48 hours after birth or before leaving the hospital. A second blood sample is taken from one to two weeks later. The blood sample is put on a piece of absorbent paper, dried and sent to the Texas Department of State Health Services laboratory in Austin for special screening tests.
Q. What conditions does the current screening program cover?
A. Currently newborns are screened for seven disorders: phenylketonuria (PKU), galactosemia, congenital hypothyroidism, sickle cell anemia, sickle beta thalassemia, sickle-hemoglobin C disease and congenital adrenal hyperplasia.
Q. After expansion of the program in early 2007, what will the screening cover?
A. Beginning in early 2007, newborns will be screened for 27 disorders. They are:
Six amino acid disorders: argininosuccinic acidemia, citrullinemia, homocystinuria, maple syrup urine disease, phenylketonuria (PKU) and tyrosinemia type I;
Two endocrine disorders: congenital adrenal hyperplasia and congenital hypothyroidism;
Five fatty acid oxidation disorders: medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency, carnitine uptake defect, long-chain hydroxyacyl-coenzyme A dehydrogenase deficiency, trifunctional protein deficiency and very long-chain acyl-coenzyme A dehydrogenase deficiency;
Three hemoglobinopathies: sickle cell anemia, sickle beta thalassemia and sickle-hemoglobin C disease;
Nine organic acid disorders: 3-methylcrotonyl-coenzyme A carboxylase deficiency, beta-ketothiolase deficiency, glutaric acidemia type I, hydroxymethylglutaric aciduria, isovaleric acidemia, methylmalonic acidemia (Cbl A and Cbl B forms), methylmalonic acidemia (mutase deficiency form), multiple carboxylase deficiency and propionic acidemia; and
Two other disorders: biotinidase deficiency and galactosemia.
Q. Why are two screens required in Texas?
A. Standard practice is to take the first sample early, during the hospital stay, to detect some disorders at the earliest possible chance. In some cases, the first sample may not identify all abnormal screens, and a disorder may be detected only on the second screen.
Q. Why is newborn screening important?
A. Most children born with these problems are from healthy families and appear healthy at birth. Parents who have already had healthy children do not expect any problems with birth defects. Because every baby is tested soon after birth, any child who may have a disorder is identified early and can get early care.
Q. Who does the screening?
A. The health care provider takes the blood sample. The DSHS public health laboratory in Austin does the screening tests.
Q. What happens if a disorder is found during screening?
A. If the results of the screening tests are positive for any disorder, DSHS case management follow-up staff contacts the health care provider to quickly relay these critical results and then works with the health care provider and parents to ensure the infants get recommended follow-up screens or confirmatory testing.
Q. What are the statistics for screening in Texas?
A. DSHS receives about 760,000 newborn screening blood specimens annually. About 12,000 of these show abnormal results and require follow-up. About 400 infants actually are diagnosed with one of the seven disorders annually. Of these, about 20 infants had a normal first screen but an abnormal second screen.
Q. Can infants with any of these disorders be cured?
A. There is no cure for these conditions. Early treatment may prevent or control the serious effects of these disorders.
Q. Can parents opt out of having their newborn screened?
A. Yes. A parent can refuse the screen for religious reasons.
Q. Who pays for the screening?
A. The health care provider or facility sending the specimen to the laboratory buys the specimen collection kit for private pay patients. How these patients are billed is determined by the commercial insurance carrier. DSHS provides specimen collection kits at no cost to those covered by Medicaid and Title V. DSHS is reimbursed by Medicaid and Title V.
EXPANSION OF THE TEXAS NEWBORN SCREENING PROGRAM
Q. Why is the program being expanded?
A. Nationally, the American College of Medical Genetics (ACMG), with the support of the federal Health Resources and Services Administration (HRSA), recommends that all states screen for a specific set of disorders. In Texas, the 79th Legislature in 2005 mandated that DSHS expand to the ACMG-recommended panel of disorders as funding allowed.
Q. When will the program expansion be implemented?
A. Screening for 27 disorders will begin in early 2007.
Q. Will screening for these new disorders mean more blood will be needed from babies?
A. No, the amount of blood required will remain the same.
Q. How much money is appropriated for expansion of the DSHS Newborn Screening Laboratory to do the additional testing?
A. Approximately $3.1 million was appropriated for startup of the expansion. Approximately $633,000 a year was appropriated for charity testing.
Q. How much will the DSHS Laboratory expansion cost?
A. The appropriated amount, $3.1 million, is the cost for laboratory startup of the newborn screening expansion.
Q. Will the expansion mean an increase in the price of the test and materials?
A. The cost for test and materials currently is $19.50. The expanded testing, materials and follow-up are anticipated to cost $29.50.
Q. What needs to be done for the expansion?
A. The laboratory must be made ready to receive new technology. New staff will need to be hired and trained to perform the additional tests and to follow up on abnormal results.
Q. With so few cases diagnosed, why is the screening of all children important?
A. While ultimately a small number of children are identified with disorders, the impact of these conditions on the physical and emotional health and financial resources of these children and their families would be much more significant without early identification and treatment.
Q. What will be the turnaround time for the new testing?
A. It is anticipated that preliminary abnormal results will be reported to case management and follow-up staff within three days. Reports of final results will be available within five days. This time is based on the receipt of a quality specimen with complete information.
Q. Why not add screening for cystic fibrosis?
A. The 79th Texas Legislature in 2005 mandated that DSHS expand to the ACMG-recommended panel of disorders as funding allowed and appropriated $3.1 million. The startup funding allows 20 additional disorders to be added to the screening panel. Cystic fibrosis startup would require an additional $2 million to $3 million.
LABORATORY SERVICES FOR NEWBORN SCREENING
Q. How many additional laboratory staff members will be added to the laboratory for the expansion?
A. A total of 17 staff members will be added: 13 in the analytical area, one in demographic entry area and three in the specimen receiving area.
Q. How many machines will be installed?
A. The DSHS laboratory will install 10 Tandem Mass Spectrometers (MS/MS).
Q. What was the cost-effectiveness study and what were the results?
A. HB 790 of the 79th Legislature required DSHS to conduct a study to determine whether it is more cost-effective to contract with a private vendor to conduct newborn screening tests or to conduct them at the DSHS laboratory. A six-member team evaluated the two proposals submitted by vendors in response to the Request for Proposal issued by DSHS. The evaluation team concluded unanimously that it is more cost-effective for the DSHS laboratory to conduct newborn screening tests.
HISTORY OF NEWBORN SCREENING PROGRAM
Q. What is the history of newborn screening in Texas?
A. A pilot for phenylketonuria (PKU) screening was implemented in Texas in 1963. PKU testing was mandated by the 59th Legislature in 1965. Screenings for additional disorders were added with galactosemia in 1978, congenital hypothyroidism in 1980, sickle cell disease in 1983 and congenital adrenal hyperplasia (CAH) in 1989.
Q. Do newborns receive a hearing screening?
A. All newborns in Texas born in a hospital or birthing center must either be offered a hearing screen or referred to a facility that offers one. About 98 percent of all newborns are screened for hearing. When the law was enacted in 1999, some birth facilities in sparsely populated areas of the state were given an exemption from the law. Since that time, most exempt birth facilities in Texas have chosen to offer the hearing screen, and there currently are fewer than 10 birth facilities that do not provide the hearing screen. Those that do not offer the screen refer families to facilities that do provide the hearing screen. Families who have home births should ask their midwife for a referral to a local pediatric audiologist for a hearing screen.
Q. What can parents do to get a hearing screen for their newborn?
A. If parents are not offered a hearing screen or a referral for a hearing screen for their child or do not receive the results of the screen, they should ask their health care provider about it.
Q. How many infants are affected by hearing problems?
A. In Texas, two to three infants a day are born with a hearing loss. Unidentified infant hearing loss affects language, learning and brain development. Intervention within six months after birth minimizes developmental delays.