While each state has its own panel of diseases and follow-up procedures, every state has a common goal: to improve public health by identifying children with rare genetic disorders and getting them into treatment. Newborn screening is a simple screening tool used nationwide to help prevent developmental delays and even death among children who inherit rare diseases.
Because parents typically have to consent to the newborn screening test in the hospital, there are a few things parents and guardians should know in order to make an informed decision.
Ten Things to Know About Newborn Screening Programs
- Newborn Screening could save their child's life. It is not uncommon for children to have a genetic disease even with no apparent family history of the condition.
- Many conditions detected by newborn screening programs do not cause immediate symptoms. Some affected infants appear healthy at birth, even while a genetic disease is putting their development, and even their life, at risk. Some conditions can cause death or severe mental retardation in a matter of days or weeks if not detected and treated.
- The collection process involves squeezing several large drops of blood from the baby's heel onto a special paper card. The card is then dried and sent into a lab for testing and reporting of results.
- Newborn screening programs typically only test for serious diseases that have cures or effective medical treatments that can drastically reduce the impact of the disease.
- A positive or abnormal test result does not always mean a child has the disease. There are many reasons why a blood test may have a false positive result. Once the physician and family have been notified, the child's primary care provider will determine whether additional testing or evaluation is needed.
- Rules and procedures vary from state to state regarding how long a blood sample is kept, which diseases are included in the screening panel, how many tests are requested, and the follow-up method or reporting procedures. In general, most states will report an abnormal result to the child's pediatrician, who should then inform the family and arrange for further testing.
- States rarely test a child's DNA. Instead, laboratory tests look for increased, and possibly toxic, amounts of certain biochemical substances in the blood. For instance, PKU can be detected by measuring how much of the amino acid Phenylalanine is in the blood sample.
- Most states do allow parents to call the health department to get their child's remaining blood sample destroyed after the testing is performed. Parents should keep in mind, however, that the sample will not be available later should they desire to re-test the child's newborn blood. In addition, destroying the samples could inhibit the advancement of testing procedures that could save even more lives in the future.
- Newborn screening programs have well-informed staff who can help answer questions regarding individual results or the program as a whole. In addition, most pediatric health care providers are familiar with the ins and outs of newborn screening, and can serve as a valuable and informative resource for parents.
- The programs exist to identify children and notify health care providers, saving thousands of lives every year and preventing the need for more extensive medical care later in life for identified babies.
Additional Resources on Newborn Screening
Of course, the above tips do not include everything parents should know about newborn screening. Because there are significant differences in screening programs from state to state, curious readers should seek out their state's newborn screening website or telephone number for more specific information.
The CDC provides a good overview of newborn screening, and the Save Babies Through Screening Foundation has a wealth of resources directed at new parents. Readers can also look more into the purpose of infant screening programs, or check out more general resources for new parents.
Katherine Brind'Amour - Quality. Creativity. Professionalism. Writing you can trust, from an expert in the health sciences, creative writing, and academics.
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