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Newborn Screening Program nearly quadruples
number of tests on all Texas infants

Everyone loves the feel of a baby: silky smooth and sweetly fresh, with a whole world of possibilities at its fingertips. For their best chance at a healthy life, all infants need to feel the touch of love and protection.

At DSHS, through the Newborn Screening Program, we "touch" every one of the nearly 400,000 or so babies born in Texas each year. In fact, they're so nice, we do it twice.

  Every newborn in Texas is now tested for 27 disorders.
  Every newborn in Texas is now tested for 27 disorders.

One possible challenge that each baby faces is a chance at a lifelong disorder that can cause pain, growth problems, developmental delays, deafness, blindness, mental retardation, seizures, or early death. Often, these disorders can affect babies who appear to be healthy. And that's where the DSHS touch comes in, by promptly screening for such disorders in each Texas newborn.

"With nearly 800,000 screens done each year, Texas has the largest newborn-screening program in the country," says Susan Tanksley, manager of the Biochemistry and Genetics Branch of the DSHS Lab Operations Unit. "And," she adds, "we're one of only eight states that mandate two screens on every infant."

These "screens" are a series of blood tests run in the DSHS lab in Austin. Since 1989, the state has screened newborns for seven disorders: congenital adrenal hyperplasia, congenital hypothyroidism, galactosemia, phenylketonuria, sickle-beta thalassemia, sickle-cell anemia, and sickle-hemoglobin C disease.

At least, that's how it was until December 2006, when our Newborn Screening Program was expanded. By early January 2007, the number of disorders that the lab was checking for had nearly quadrupled from seven to 27. (To see a descriptive list of all 27 disorders, go to www.dshs.state.tx.us/newborn/quickreference.shtm.)

Babies are screened twice for all 27 disorders. "Each baby is mandated to have two newborn screens, one at 24 to 48 hours of age and the second at the age of one to two weeks," says Tanksley. "Through second screens in Texas, we've helped to identify multiple cases of congenital hypothyroidism and congenital adrenal hyperplasia that, otherwise, wouldn't have been identified until symptoms arose."

To get the blood sample necessary for the screens, a tiny amount of blood is extracted from the baby's heel. Five spots of blood are collected on an absorbent card and sent to the lab for analysis. Expansion of the screening from seven to 27 disorders will not mean that any additional blood will have to be drawn from the baby; the same five spots will suffice.

Despite the expanded number of screens, no additional blood will need to be drawn from babies. And that's good news, because babies are such tenderfoots, even little Texans.
Despite the expanded number of screens, no additional blood will need to be drawn from babies. And that's good news, because babies are such tenderfoots, even little Texans.

If any of the screens show an abnormal result, DSHS nurses and public-health technicians spring into action. They contact the baby's health-care provider and parents, and they work with them to ensure that the baby gets follow-up screens or confirmatory testing, as well as appropriate care.

"In the central office, nurses and public-health technicians conduct follow-up immediately after an abnormal result is released from the laboratory," says David R. Martinez, manager of the Newborn Screening Branch in the DSHS Health Screening and Case Management Unit. "They're the front lines, so to speak. In very urgent situations, the nursing staff will get the regional case managers involved with hard-to-locate babies and families."

None of the 27 disorders are curable, but early treatment can prevent, lessen, or control many of the effects of the disorders.

The Newborn Screening Program was expanded in accordance with House Bill 790, passed by the Texas Legislature in 2005. The law mandates that DSHS conduct screens, as funding allows, for additional disorders whose testing is recommended by the American College of Medical Genetics. The ACMG advises that newborns be screened for 29 separate conditions.

Texas is now one of 34 states that screens for at least 27 of these 29 ACMG disorders. Sixteen other states screen for fewer than 27 conditions.

In fact, Texas screens for 28 of the 29 ACMG disorders, including hearing loss. DSHS is the oversight agency for the Texas Early Hearing Detection and Intervention Program, which ensures that about 98 percent of all newborns in Texas are given a hearing screen. In Texas, two babies a day are born with a hearing loss. If not identified, infant hearing loss can affect language, learning, and brain development. For more information on newborn hearing screens, go to www.dshs.state.tx.us/audio/newbornhear.shtm.

Unlike hearing loss, the other 28 disorders on the ACMG list can all be identified through a blood test. Of these 28, the only one that Texas has not yet implemented is the screen for cystic fibrosis. Start-up costs for screening this one disorder alone could equal the start-up costs allocated by the Legislature for all 20 recently added screens.

Start-up funds cover staff salaries and training for new employees in the laboratory, the Newborn Screening Branch, and the regions. Since last summer, DSHS has also provided outreach to obstetricians, hospitals, clinics, laboratories, midwives, neonatal and perinatal specialists, and other health-care providers and medical groups. By the start of 2007, more than 70 training sessions had been attended by nearly 1,200 individuals, and nearly 75,000 brochures for parents about newborn screening have been printed and distributed.

FDA-approved test kits and new laboratory equipment and chemicals have been rented or purchased. Ten new tandem mass spectrometers were acquired; all 10 are dedicated solely to newborn screening. Other preparations for the expanded screening include building renovation, software upgrades, professional fees to a metabolic specialist, computers and associated costs, and operational costs to cover the average four-month delay in receiving payment for screening services.

The price for the screens went up from $19.50 to $29.50 in November 2006. The baby's health-care provider pays DSHS for the test and is reimbursed by the family or its insurer. Other screens are covered by Medicaid or the Children's Health Insurance Program.

Tests that aren't covered through any of the above means are considered "charity" cases; the federal Title V program pays for newborn screens in these cases for the seven original disorders, and new funding has been dedicated to the ongoing cost of conducting charity screens for the 20 newly added disorders.

Within three to four days of receiving the specimen, the lab reports preliminary abnormal results to the nurses and follow-up staff. Within five days of receiving the specimen, final results are reported back to the health-care provider who had sent it in. This week, the DSHS laboratory began to send out a new, comprehensive report that shows the results, both normal and abnormal, for all 27 lab-tested disorders.

When just seven disorders were being screened, about 12,000 specimens a year showed abnormal results and needed follow-up, with 400 infants a year actually being diagnosed with one of the seven disorders. Now that DSHS screens for nearly four times as many disorders, we expect to touch the lives of even more Texas babies and families, and to help them know about, understand, and get needed follow-up and care for any disorders that are identified.

Further information about the DSHS Newborn Screening Program and the disorders covered is available online at http://www.dshs.state.tx.us/newborn/default.shtm.

POSTED FEB. 9, 2007
DSHS STAFF NEWS

Last Updated March 5, 2007

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