Newborn screenings detect health issues
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BY ERIN ANDERSEN/Lincoln Journal Star
While most other states screen newborns for 21 or more possible genetic defects within 24 to 48 hours after their birth, Nebraska law requires infants be screened for nine disorders.
That earns Nebraska the dubious distinction as one of only nine U.S. states that require less than half of the genetic screenings recommended by the March of Dimes and the American College of Medical Genetics to identify potentially life-threatening and brain-damaging disorders.
But the news is not as bad as the national March of Dimes report might make it sound, said Dr. B.J. Wilson, neonatologist at Saint Elizabeth Regional Medical Center, member of the March of Dimes board and the state’s Newborn Screening Advisory Committee.
State law requires a newborn’s blood be tested for eight metabolic disorders along with a separate hearing screening before the child leaves the hospital.
But parents long have had the option of having babies screened for the additional 20 disorders at no extra cost, according to the Nebraska Health and Human Services System.
And, at this time a bill recommending Nebraska modify the law to include screenings for all 29 identified disorders is presently awaiting the governor’s signature, Wilson said.
Ninety percent of all babies born in the United States receive newborn screening tests. The blood test involves pricking the baby’s heel to collect about four or five drops of blood. The blood is placed on a card and shipped off to a laboratory where it is placed in a Tandem Mass Spectrometer, which analyzes the blood for dozens of possible metabolic deficiencies, such as the lack of specific enzymes, amino acids and hormones or the body’s inability to break down various substances.
The disorders are very rare, occurring in 1 out of every 5,000 to 100,000 births, depending on the disorder.
The screening, while not a diagnosis, helps doctors identify and treat these disorders before they can damage the baby’s organs or cause mental retardation.
Diseases like Pheylketonuria (PKU), which occurs in 1 out of every 25,000 births, can lead to severe mental retardation shortly after birth. But with appropriate dietary changes, brain development can occur normally.
Congenital Hypothyroidism (CH), which can retard brain and growth development, can be symptom-free if treated with thyroid hormones.
And Medium-Chain Acyl-CoA DehydrogenaseDeficiency (MCAD) can go undetected for years until a child becomes ill and cannot eat. Then their blood sugars fall dangerously low, triggering a metabolic crisis of seizures, cardiac arrest, brain damage and death. Adding a dietary supplement to the baby’s diet can prevent problems. If parents are aware their child has MCAD they can take appropriate cautions to protect their children when they are ill and unable to eat, said Karen Rock, patient care coordinator at BryanLGH Medical Center East’s childbirth unit.
Newborn screening started in the 1960s, when researchers discovered that babies with PKU could be identified by looking for the level of phe amino acids in their blood.
Furthermore, early identification allowed doctors to modify these babies’ diets and prevent brain damage from occurring at all.
Since then, advances in research and technology have found by collecting a few drops of blood 29 potential disorders can be identified shortly after birth and before they damage the body.
Later, hearing loss, which is the most common of newborn disorders, was added to the screening list. By identifying hearing loss early, education and treatment can offset any developmental delays associated with a child’s inability to hear.
When Cori Vavricek of Schuyler gave birth to twins Addison and Allison several weeks early on July 2, newborn screening was the least of her worries.
She quickly gave consent for all nine required screenings as well as the additional 20 supplemental screenings.
“It’s beneficial to know as much as possible,” Vavricek said from the babies’ hospital room in the Neonatal Intensive Care Unit at Saint Elizabeth Regional Medical Center. “The more you screen for, the more knowledge you have regarding the test, the better prepared you can be.”
Matthew and Shelley Jones, who became proud first-time parents to Stella Louise on Tuesday, hadn’t even heard of newborn screening until it was time to deliver the baby. They didn’t hesitate to say yes to both the state-required nine plus the 20 supplemental tests.
“I’d rather know than not know,” Shelley Jones said as her husband cuddled 25-hour-old Stella while a technician collected blood from her heel.
But some parents do opt out of screening their babies.
Some cite religious reasons, said Wilson.
BryanLGH’s Rock said the parents who forgo the screenings often worry about additional testing if the screening comes back abnormal, or fear the test results will have a negative effect on their health insurance policies.
While Nebraska will soon join the ranks of other states requiring screenings for all 29 disorders, Wilson predicts “29 will not be where we stop, by any stretch of the imagination.”
“It’s a matter of research,” Wilson said. As more genetic markers for disorders are found, more screening will be done.
The end result?
Healthier children who are able to reach their full potential.
“Screening allows us to provide them with appropriate early intervention and prevent the damage that could have been done if they were not identified early,” Wilson said.
Reach Erin Andersen at 473-7217 or eandersen@journalstar.com.
Screenings required by Nebraska state law
1. Biotinidase Deficiency — Incidence: less than 1 in 100,000 newborns. Babies with this disorder lack the enzyme biotinidase and need more biotin than is normally found in the diet. The disorder can lead to seizures, developmental delay, eczema and hearing loss. Starting biotin treatments within the first few weeks of life can prevent problems.
2. Congenital Adrenal Hyperplasia — Incidence: greater than 1 in 25,000. The disorder is caused by an enzyme deficiency causing the adrenal gland to produce too little aldosterone and cortisol and too much androgen. Babies with the salt-wasting form of the disorder are at risk of an adrenal crisis that can cause sudden death. Early hormone treatments can prevent problems.
3. Congenital Primary Hypothyroidism (CHP) — Incidence: greater than 1 in 5,000. The disorder is caused by not enough thyroid hormone. Babies with CHP often appear normal at birth. Frequently babies with untreated CHP have mental retardation and do not grow properly. Treating with thyroid medication, starting in the first few weeks of life, usually allows the child to develop normally.
4. Cystic fibrosis — Incidence: greater than 1 in 5,000. This genetic disorder may result in persistent coughing, wheezing or shortness of breath; an excessive appetite but poor weight gain and greasy, bulky stools. Babies suffering a problem with the pancreas, which affects weight gain, can benefit from early treatment and have more normal growth and development. With early diagnosis from newborn screening, some cystic fibrosis patients may have fewer hospitalizations, and regular monitoring can prevent or reduce lung infections.
5. Galactosemia — Incidence: greater than 1 in 50,000. With this disorder a simple blood sugar called “galactose” cannot be broken down in the body. Galactose is found in breast milk, many formulas and milk products. If it remains at high levels in the body and is not broken down, it can harm the baby’s eyes, liver and brain. In some cases life-threatening damage to the brain and liver can occur. When started early, a special diet can prevent these problems.
6. Hemoglobinopathies — This is a group of disorders involving red blood cells. Among the disorders is sickle cell anemia, which occurs in 1 out of every 5,000 births, but among blacks the incidence is 1 out of 400 births. Babies with this disorder are more likely to have anemia, episodes of pain, strokes and life-threatening infections. Early treatment with antibiotics, immunizations and parent education can help prevent serious infections in childhood and improve the outcomes for babies with this disorder.
7. Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCAD) — Incidence: greater than 1 in 25,000. This is a disorder of the fatty acid metabolism. When babies or children with MCAD become ill or have long periods of fasting, blood sugars become dangerously low and they can be at risk of “metabolic crisis” leading to seizures, failure to breathe, and cardiac arrest, resulting in death and/or serious brain damage. Screening can provide a diagnosis before symptoms occur, and parents can prevent the fasting periods and know when to seek early medical care to prevent a crisis. A special diet supplement is often added to the baby’s diet to help prevent problems.
8. Phenylketonuria (PKU) — Incidence: greater than 1 in 25,000. This disorder is caused when the body cannot break down phenylalanine or phe, which is an amino acid found in protein foods like milk, meats, eggs and cheese. In babies with PKU, the phe remains at high levels in the body after eating these foods, and can cause nerve and brain cell damage resulting in mental retardation. If detected early and the baby is started on a low phenylalanine diet, mental retardation is prevented.
9. Hearing loss — Incidence 3 or 4 out of every 1,000 newborns. Significant hearing loss is one of the most common birth defects. Early detection allows early intervention and treatment before age 6 months and is highly effective in helping a child’s language, communication and educational development.
* Supplemental screening or Tandem Mass Spectrometry can detect for a variety of rare organic acid disorders, amino acid disorders, fatty acid oxidation disorders as well as other abnormalities of the blood, liver and metabolic deficiencies.
Source: Parent’s Guide to Your Baby’s Newborn Screening by Nebraska Health and Human Services System
Screening Q & A
How is it done?
Newborn screening, with the exception of the hearing screening test, is done by collecting three or four drops of blood from a needle prick in baby’s heel. The blood is then applied to a card and sent to the laboratory for diagnostic testing.
At the time of consent for the screening, parents will be given the option to have the supplemental or “Tandem Mass Spectrometry” testing to check for the other 20 disorders not required by law. This supplemental screening is done at no cost to parents by the state of Nebraska.
Hearing loss is one the most common major birth defects. Hearing screening is done in one of two ways: using an auditory brain-stem response (ABR) and/or otoacoustic emissions( OAE). Both are done when the baby is asleep or quiet. Responses to sounds sent through tiny earphones are counted and averaged by a computer. Many newborns do not pass this initial test, but follow-up evaluations can determine if there is an actual hearing loss.
Children identified with hearing loss will receive services through the Nebraska Early Intervention Program, their local school system and medical provider.
When is the screening done?
For the most accurate results the blood screening tests should be conducted 24 to 48 hours after birth, so treatment can begin as soon as possible. Hearing screening is done about 12 hours after birth.
Doesn’t the blood draw hurt my baby?
It feels like any other shot — it hurts but then it passes. To ease discomfort, babies can be given a small dose of sucrose to combat pain. Swaddling, holding and nursing also tends to reduce baby’s discomfort, said Karen Rock, patient care coordinator on the BryanLGH Medical Center East’s childbirth unit.
What if my baby isn't born in a hospital?
Nebraska law requires all babies be screened for nine of the 29 recommended disorders shortly after birth. If a baby isn’t born in a hospital, the person registering the baby’s birth is required to arrange with a doctor to have the screening completed.
What if my baby is older than 48 hours?
Parents still should have their baby screened. Even though the timing is less than ideal, older babies may still benefit from treatment for certain disorders, according to the Nebraska Health and Human Services System.
What if the results come back positive?
A “positive” or abnormal screening result means your baby might have only one of the disorders. Usually a diagnosis of a disorder is not made with the first lab test. Additional tests will determine if your baby has the disorder, and then treatment can begin.
Can the test be wrong?
Yes. “False positives” do occur, said Dr. B.J. Wilson. That’s why additional testing is always done to verify whether or not a baby has a particular condition.
What happens if I don't screen and my baby has one of these disorders?
Depending on the disorder, the damage can vary. Some diseases that are screened for, such as cystic fibrosis and sickle cell anemia, are not curable.
However, medical experts agree with early diagnosis and preventative treatment many of the problems common with the disorder can be avoided or minimized if people are aware of the disorder in advance.
Where can I learn more?
March of Dimes: log on to www.marchofdimes.com.
Nebraska Newborn Screening Program: call 471-6733 or 441-0374 or log on to www.hhss.ne.gov/nsp.
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