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Screenings essential for newborns' health
September 12th, 2011
07:00 AM ET

Screenings essential for newborns' health

September is Newborn Screening Awareness month, a time designated to get the word out to new or expectant parents about the importance of having their new babies screened for serious illnesses.

Even if a baby is born healthy, certain conditions can develop later in infancy that may affect a child's long-term health. That's why the Center for Disease Control stresses newborn screenings. These tests can many times identify issues before they become major problems and can help with the diagnosis and treatment of certain illnesses.

"Newborn screenings actually started in the '60s, when newborn babies were screened for phenylketonuria or PKU, (a metabolic condition that can damage the brain) ," says Dr. Toni Thompson-Chittams, a board certified pediatrician and director of TLC Pediatrics of Bowie, Maryland. " The screenings became so successful, hospitals and state public health departments, decided to test for more conditions."

Each year, millions of babies in the U.S are routinely screened for specific genetic, endocrine, and metabolic disorders, such as sickle cell and PKU. Using a few drops of blood from the newborn's heel, the tests are usually done before the baby goes home from the hospital. They range from hearing tests to jaundice detection. Each state varies on which tests are given.

"Your state's public health department will know exactly what tests are available," says Thompson-Chittams. " Parents can call or look at their state health website or ask their doctor."

"In some cases," Thompson-Chittams continued, " hospitals will send the baby's blood out to labs in other states to make sure the baby is tested for all conditions. If a parent wants more tests, they can ask for them. Some are covered by the state. Others, such as certain genetic tests, like for cystic fibrosis, will need to be paid for by insurance. But many parents don't care. They want the test done to bring them piece of mind."

According to the Department of Health and Human Resources and the CDC, in most states, before heading home with their families, babies should be screened for tests that fall under these five categories

– Amino acid metabolism disorders – (Example: PKU, or phenylketonuria) These are a group of disorders that vary in severity. Some affected babies lack enzymes needed to break down building blocks of proteins in the body called amino acids. Others infants have deficiencies in enzymes that help the body get rid of nitrogen found in amino acid molecules. Too high levels of amino acids or ammonia can build up in the body causing a variety of signs and symptoms, and even death.

– Organic acid metabolism disorders – (Example: HMG, or hydroxymethylglutaric aciduria) The diseases in this group are inherited disorders and are caused by a lack of enzymes that break down amino acids, fats, sugars and steroids. When any of these are not properly broken down, toxins ( poisons) build up in the body. Without proper treatment these disorders can cause coma, even death in the first month of life of a baby.

– Fatty acid oxidation disorders – (Example: TFP , or trifunctional protein deficiency) These disorders are caused by inherited defects of enzymes needed to turn fat into energy. Babies with these disorders suffer from a loss of energy, because their bodies run out of sugar which keeps them going. This is most likely to happen when a child gets older and becomes ill or skips meals. Without treatment, the brain and many organs can be affected.

– Hemoglobinopathies – (Example: sickle cell anemia) These are inherited diseases of the red blood cells that can cause anemia (shortage of red blood cells), serious infections, pain and damage to vital organs.

– Others – Babies should also be screened for hearing loss.
" Doctors will administer a BAER test, that evaluates the nerves in the baby's ears. It's very simple and gives us an accurate reading on possible hearing defects," notes Thompson.

HHS and CDC also recommend babies be checked for jaundice while they are in the hospital and then within 48 hours after going home. If not treated, jaundice can lead to brain damage.

The March of Dimes, a national organization whose mission is to help mothers have full-term pregnancies and research the problems that threaten the health of babies, would like to see all infants in all states screened for 30 disorders for which effective treatment is available. This recommendation is based on endorsement of a report by the American College of Medical Genetics urging screening for these disorders. The recommendation is also based on the 2010 guidance from the secretary of Health and Human Services.

Thompson-Chittams says newborn testing is essential to help babies grow into healthy, happy children.

"Catching these illnesses at their beginnings can lead to better treatment and better outcomes," says Thompson-Chittams. " What better way to help a newborn grow, than to catch any possible orders in their earliest stages and treat them before they become problems later in life."


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