Infant Genetic Screenings; An Overview of the National Program

Newborn screening programs are vitally important to the health and welfare of a child. Statistics have shown 3,000 to 5,000 infants are diagnosed annually with a genetic condition through the state mandated newborn screening. In an effort to prevent early death and disabilities many states have expanded the standardized listing of mandated genetic screening tests for newborn children. It is through these state mandated genetic screening programs that approximately one out of every 1,500 babies will test positive for a condition and thus receive the treatment so desperately needed to ensure optimal child growth and development.

Of the 50 states, approximately 10 provide a fully recommended comprehensive newborn genetic screening program. With the vitally important genetic screening, parents of newborn babies are provided with an accurate and early diagnosis into disabilities or diseases which may significantly impact the health, growth and development of their newborn child. With this stated mandated genetic testing, and positive diagnosis of a condition, both the parents as well as the medical practitioner are afforded the best possible opportunity to modify the newborn’s dietary program, provide resources for genetically based treatment programs, provide assistance and recommendations for formula supplements, vitamins and even medications.

In recent years, a national push for outreach to underprivileged families has been vitally important to the genetic screening program. This push may, in part, be attributed to the statistic which seems to indicate SIDS, also known as sudden infant death syndrome, has a direct incident correlation to a child’s potential metabolic disorder. Through the national push for stand mandated newborn genetic screening programs, this metabolic disorder may be detectable and, therefore, could prevent the continuing rise in infant deaths attributed to SIDS.

Newborn genetic screening tests are generally completed through a blood sample most often drawn from the heel of the newborn baby. Results of the newborn screening genetic test provide significant results, with early treatment identification, into conditions such as PKU, sickle-cell disorders and congenital hypothyroidism with results provided within a few days. If the newborn genetic screening is abnormal, your pediatrician will most likely repeat the newborn genetic screening test and may recommend additional testing into disorders not currently mandated under your state guidelines.

For more information regarding newborn baby screenings, genetic testing and a list of the standardized newborn genetic screening tests required for your state, visit or discusss options with your pediatrician. With continued public awareness, the newborn genetic screening program will remain a vitally important, nationally endorsed plan, with a positive impact on public health.

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