Purpose of Newborn Screening Programs
Why Doctors Test Infants for Hearing Loss or Rare Heritable Diseases
Sep 28, 2009
Although conditions like galactosemia, phenylketonuria (PKU), sickle cell anemia, adrenal hyperplasia, Cystic Fibrosis, and hearing loss are rare, they can all significantly impact the life of affected newborns and their families.
Some of these and other conditions commonly screened for in heel stick tests can even be fatal.
Many of the conditions that state health departments often mandate in screening panels can also be treated and improved if identified early, potentially saving lives and millions of health care dollars in later treatment procedures or emergency visits that could be avoided by early detection.
Federal Newborn Screening Recommendations
The federal government in the United States has allowed states to take the lead on which diseases and conditions should be included in newborn screening panels.
According to the US Preventive Services Task Force (USPSTF), the only current conditions listed for recommended post-partum screening are congenital hypothyroidism, phenylketonuria, sickle cell anemia, and hearing loss.
Many states have chosen to drastically expand the number of genetic disorders they screen for in routine newborn blood tests. Arizona, for instance, tests for 29 disorders, and bases its newborn screening initiatives on the recommendations of the American Academy of Pediatrics and the March of Dimes.
These organizations recommend screening for a variety of amino acid metabolism disorders, fatty acid oxidation disorders, organic acid disorders, hemoglobin disorders, and other serious conditions.
Why Test Babies for Genetic Disorders or Hearing Loss?
Not all babies who look and act healthy have a clean bill of health. In fact, some of these conditions, if unidentified by newborn screening, can take months or even years to manifest themselves - and by then the damage can be irreparable.
By screening every newborn before it even leaves the hospital, physicians and health professionals can identify babies that may need additional tests. If the newborns test positive for a condition in follow-up tests, parents and doctors can begin treating the disease or making lifestyle changes to prevent a future health risk.
Early identification of many of these conditions can prevent mental retardation or even death in some cases. In addition, identifying infants with hearing loss can allow for early interactions and targeted education programs that cater to the needs of a baby with hearing problems, enabling the child to get a healthy start with the support he or she needs.
At the very least, identification of these conditions can help prepare families for the challenges or changes that may arise in caring for an infant with such a disorder.
By immediately connecting the parents to support groups and medical referrals, screening programs can significantly improve a family's outlook on raising a child with a rare disorder.
Most newborn babies will receive such screening as a routine part of the hospital stay. If parents are unsure as to whether their baby has been screened, or if they would like to determine whether a particular genetic condition is included in the screening panel, they should ask their health care provider while at the hospital.
Resources for Parents on Newborn Screening
The CDC's Early Hearing Detection and Intervention Program has compiled a great list of resources for parents whose newborn has been diagnosed with hearing loss.
The American Academy of Pediatrics also maintains a very informative page on newborn screening topics.
Depending on the situation, the parents or the family may wish to attend genetic counseling for assistance in understanding the genetic disorder or in finding local resources.
Understanding genetic mutations may also help answer some questions about detecting heritable disorders.
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