Newborn Screening Protects Babies’ Health—Even Lives
By Joyce Heid
Years ago, when a baby was born, screening techniques consisted of asking “Is the baby breathing?” and “Is the baby crying?” and checking for 10 fingers and 10 toes.
To describe newborn screening in today’s labor and delivery wards, it is apt to quote, “You’ve come a long way, Baby!”
There are many diseases that a child can be born with that present no obvious symptoms at birth. However, left untreated, those diseases can lead to mental retardation, physical disabilities and, in some cases, death.
Early identification can greatly improve a child’s chance of avoiding those complications. A simple heel stick followed by the collection of a few drops of blood can make a huge difference in the quality of a child’s life.
Maryland has always been at the forefront of newborn screening. It was the second state to initiate a statewide screening program and has been doing so since 1965. Currently, Maryland babies are screened for a comprehensive panel of more than 32 disorders. Many of those are metabolic diseases, such as phenylketonuria (PKU). Babies born with PKU are unable to process a component of protein called phenylalanine found in almost all foods. If ignored, the protein component builds up in the bloodstream and causes brain damage and mental retardation. The March of Dimes estimates that annually one in 14,000 babies born in the United States is born with PKU.
At birth, these babies appear normal, but by 3 to 6 months of age, the protein build-up has started to impair the central nervous system. By 1 year of age, there are obvious developmental delays. Early detection can allow a baby to be placed on a special formula in the first few weeks of life, preventing irreversible damage from occurring. Because of nationwide screening for PKU, the disorder is almost always detected early enough to allow these babies to grow up with normal intelligence.
Other diseases in the panel include sickle cell anemia and congenital adrenal hyperplasia (CAH). Sickle cell anemia is an inherited blood disorder that affects one in 500 African-Americans as well as people from other ethnic backgrounds. It causes extreme pain, damage to vital organs and can lead to stroke, bacterial infections such as meningitis and death.
Babies with CAH lack certain hormones. This deficiency affects genital development and, in extreme cases, can inhibit kidney function and lead to death. Early detection is the key for both of these diseases, allowing treatment that can prevent some of these complications.
A Second Screening
Maryland is also unique in that it is one of only eight states to also conduct a second screening when babies go for their first check-up at 10 to 14 days.
While many diseases are detected with the first screening, some do produce a negative result but are detected at the second screening. This is common with some of the metabolic disorders. While still in the womb, the mother’s system prohibits the proteins from building up and damaging the baby. After the baby is born, it can take a couple of days of feeding for the proteins to build up to sufficient levels to be detected. Often a baby has already been tested and discharged from the hospital before this can occur. Because of this Maryland recognizes the importance of doing two sets of tests.
Along with screening for disorders with blood work, Maryland law also requires every baby born in a Maryland hospital to be tested for hearing loss before discharge.
In 1999, a law was passed that established the Universal Infant Hearing Screening Program within the Department of Health and Mental Hygiene (DHMH). The Office of Genetics and Children with Special Health Care Needs (OGCSHCN) is responsible for administering the program. Previously, only babies at high risk for hearing impairment, due to family history or pregnancy complications were screened.
Again, Maryland is recognizing that early detection can prevent long-term consequences. Hearing-impaired babies who are diagnosed and receive early intervention services before 6 months of age can have normal or near normal speech and language later in life. Since the inception of this program, twice as many babies have been identified with hearing loss.
Testing for hearing loss is completely painless. Some hospitals use a procedure that allows computer technology to measure the ear’s response to sound, while others measure the brainstem’s activity in response to sound. Babies are not disturbed by the testing, and many sleep through it.
Parental consent for the newborn screening must be obtained prior to the testing, but regulations require all babies born in Maryland be offered the testing. The testing costs $42 and is billed to the hospital—not the parents. The fee is incorporated into the hospital bill and is covered by insurance. If a baby is uninsured, the testing is still conducted. No baby is ever refused due to the family’s inability to pay. The blood sample is sent to a central laboratory of the Department of Health and Mental Hygiene. If additional tests need to be run, there is no additional charge.
Prior to Birth
Newborn screening should be explained to expectant mothers prior to the birth of their babies by their obstetrician as well as their pediatrician.
Dr. Netanel Schwob has a pediatric practice in Pikesville and is part of the Newborn Service at both Sinai Hospital and Greater Baltimore Medical Center in Baltimore. He states, prior to the birth of a child, “I do recommend that parents meet with the pediatrician and discuss their family history and get basic information on newborn screening.”
A thorough family history is part of the groundwork for the newborn screening process. Many disorders are carried genetically. For example, PKU, CAH and sickle cell anemia all follow the autosomal recessive inheritance pattern. That is, if parents already have one child with a disorder, both parents are probably carriers of the genetic mutation that causes it. The chance of the same disorder occurring in a subsequent pregnancy is 1 in 4. Some disorders that cause hearing loss are genetic, while others are due to environmental factors such as infection or trauma. Once parents are aware of the risk, there can be a question of what to do with the information.
Schwob underscores that, for families with a genetic predisposition, “It is more important for parents to obtain genetic counseling before conception to understand the risks of transmission of certain conditions.”
Parents must also remember that if a baby tests positive in the screening process, it is not the end of the road—it’s just the beginning. Further testing is done to make a definitive diagnosis.
Dr. Miriam Blitzer is head of the Division of Human Genetics in the Department of Pediatrics at the University of Maryland School of Medicine and sits on the advisory committee of the Maryland Newborn Screening Program. She is very enthusiastic about the hands-on approach the Maryland program takes to both the screening and the intervention that must follow to make the program effective.
“What is exciting about the program is that it is an integrated program that includes comprehensive follow-up and long-term treatment. Our state not only does the testing, but also the follow-up to make sure no baby is lost in the process,” she notes.
Long-term case management is offered to diagnosed cases through the Office for Genetics and Children with Special Health Care Needs, which works together with the baby’s pediatrician to ensure the best possible care.
For example, if a baby is diagnosed with PKU, dietary management is provided at no cost to the family by health department nutritionists. Special formulas may be purchased through WIC, the Special Supplemental Nutrition Program for Women, Infants and Children.
A law was passed in 1995 requiring private health insurance companies to reimburse families for the special formulas and low-protein food products used to treat metabolic disorders. If a family does not have health insurance and their income is too high to qualify for medical assistance, formula is available at cost.
Parents should embrace newborn screening as the chance to meet possible adversity head-on, giving their babies the best possible opportunity to prohibit these diseases from limiting their babies’ potential and living complete lives. A positive result in the screening process should not be looked at as a door closing on a child. The early diagnosis and intervention afforded by newborn screening are the keys to ensuring the possibility another door will open, giving hope instead of despair. BC
For more information on Maryland’s Newborn Screening Program, contact:
Department of Health and Mental Hygiene, Family Health Administration, Office for Genetics and Children with Special Health Care Needs (OGCSHCN), 201 West Preston St., Room 421A, Baltimore, Md. 21201; 410-767-6730; V/TTY for Infant Hearing, 800-633-1316; Children’s Health Resource Line, 800-638-8864; www.fha.state.md.us/genetics. The OGCSHCN is comprised of three divisions: Newborn Screening and Follow-up, including the Universal Infant Hearing Screening Program; Clinical Genetic Services; and Specialty Care and Regional Resource Development. They can be contacted through the Family Health Administration.
Step Out to March of Dimes WalkAmerica
For 36 years, the March of Dimes WalkAmerica has brought together people from all neighborhoods and walks of life to work together to save babies.
WalkAmerica is the March of Dimes’ biggest fundraiser, and funds raised go to research and programs to help prevent or treat premature birth, birth defects and infant mortality.
For more information, contact the March of Dimes, at 410-752-7990, or log onto www.marchofdimes.com.