Sidelines National Support Network  / Resources  / Newborn Screening

Newborn Screening Saves Babies
One of the most exciting moments for the high-risk couple is becoming parents. It is a time of extreme relief, joy and celebration. We also realize how much our newborns, sometimes premature, depend on us to make good decisions that impact their long-term health.

With so many treatments and options, decisions about our baby's medical and physical health can be very difficult in today's world. One thing most parents haven't thought about is finding and treating metabolic and genetic disease before it affects the child. That's where newborn screening comes in.

One in 1,500 babies born is affected by an inherited disorder that can be detected through supplemental newborn screening. Screening, diagnosis, and intervention within the first days of life are essential because many of these disorders are manageable if treatment begins early.

Newborns have been screened for metabolic and other inherited disorders in the U.S. since the early 1960s. Every state currently manages a program to screen newborns for inherited disorders at birth. However, many states include only a handful of disorders in its program, leaving newborns unscreened for a significant number of potentially manageable disorders.

Newborn screening is testing performed on babies to look for health problems that otherwise might not be detected until after serious injury or death. These tests can be performed with just a few drops of blood collected from a baby's heel shortly after the time of birth. The information learned from these tests involves serious but uncommon diseases, many with long, difficult to understand names.

The purpose of these tests is to identify and treat these problems, most of which can be treated with changes in diet or medications. Some of these conditions cannot be cured today, but with therapy the serious consequences can be avoided or minimized.

Fortunately, there are more tests available to look for many more diseases than are usually identified.

PerkinElmer Genetics offers a program of newborn screening called StepOne that can identify more than 50 disorders. The test is performed in one of the nation's largest laboratory specializing in newborn metabolic screening. The laboratory has screened more than 3 million babies using the most advanced techniques available including biochemical assays, tandem mass spectrometry, and molecular testing. As the parent, you can ask for or directly order this screening. Working with your baby's doctor, the results of this program can help ensure a healthy start for your baby.

To find out more about the program visit http//www.perkinelmergenetics.com or call toll free at: 866-463-6436.

Additional Resources for Newborn Metabolic Screening

• American College of Medical Genetics
  The ACMG provides education, resources and a voice for the medical genetics profession.
• Birth Defects Research for Children, Inc.
  Provides comprehensive information on birth defects.
• CARES (Congenital Adrenal Hyperplasia Research, Education and Support) Foundation, Inc.
  CARES Foundation, Inc.'s purpose is to educate the public and physicians about Congenital Adrenal Hyperplasia, its symptoms, diagnostic protocols, treatment, genetic frequency, the necessity for early intervention and benefits of newborn screening.
• Cystic Fibrosis - Online Picture Book for Children
  Online picture book that can be used to teach children about newborn screening and Cystic Fibrosis.
• Fatty Oxidation Disorders Communication Network (FOD)
  Provides a forum for support for families whose lives have been touched by Fatty Acid Oxidation Disorders.
• Garrod Association
  Canadian Association of Centres for the Management of Hereditary Metabolic Diseases.
• International Society for Neonatal Screening
  The society promotes appropriate screening for fetal, neonatal and infant sicknesses and disorders world-wide.
• Mitochondrial Medicine Society
  The MMS is a non-profit professional educational organization whose purpose is to promote the worldwide advancement and development of research in mitochondrial medicine, including biochemistry, genetics, disease diagnosis and treatment.
• National Organization for Rare Disorders
  The National Organization for Rare Disorders (NORD) federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them.