CHICAGO –The American Academy of Pediatrics (AAP) has endorsed a report on newborn screening prepared by the American College of Medical Genetics (ACMG) for the Maternal and Child Health Bureau (MCHB) of the U.S. Health Resources and Services Administration (HRSA).

Annually, 4.1 million newborn babies are screened for congenital disorders in the U.S. and 5,000 infants are diagnosed each year with a congenital disorder. But each year, more than 1,000 newborns go undetected for conditions that could have been identified through newborn screening because the administration of newborn screening is not uniform throughout the United States.

Currently, newborn screening is an individual function of each state, and screening programs vary widely across the United States. While every baby born in the US has some newborn screening, it’s possible because of the wide variations between states for a baby born in one state to be screened for as few as three conditions, while across the border in another state, the same baby could be screened for more than 30 disorders.

Since 2002, ACMG, working on behalf of the federal government, has convened expert work groups to examine best evidence on screening for certain conditions. This work generated the release of a report recommending that all babies born in the U.S. be primarily screened for the same 29 disorders. This would eliminate the current situation where babies born in states that screen for more disorders are at an advantage as the outcomes of many congenital conditions can be drastically improved when they’re identified early.

In its endorsement of the report, the AAP Board of Directors commented, “While we endorse the concept of expanded newborn screening, we strongly maintain that an explicit follow-up system must be established to support its effects on pediatric practices. Through our endorsement of this report, we join fellow national partners (i.e. March of Dimes) in the understanding that the US Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (ACHDGDNC) is charged to make such implementation recommendations. We acknowledge that such a process must be a dynamic one, incorporating pragmatic structural changes in the operation of the state program, as well as evolving tests and treatments.”

According to AAP President Carol Berkowitz, MD, FAAP, “The AAP wants to recognize the importance of national consistency and wants to work with the Secretary of Health and Human Services to be sure newborn screening involves a medical home, is fair and equitable to families and doesn’t allow children to slip through the cracks. We don’t want a child to be identified, and then not receive the necessary care or follow up.” According to the AAP, a medical home is an integrated approach to providing continuous, comprehensive and coordinated primary heath care services in a high-quality, cost-effective manner.

Nancy Green, MD, FAAP, and Medical Director at the March of Dimes says, “We applaud AAP’s leadership on this very important issue in pediatric health. March of Dimes and AAP should continue to work collaboratively on improving newborn screening in the U.S. This includes the implementation of a national uniform panel of newborn screening disorders that will help spare many children from unnecessary disability and even death.”

Additional information on newborn screening can be found in the Health Topics area of the AAP Web site http://www.aap.org/healthtopics/newbornscreening.cfm .
Other good resources on newborn screening for parents are the National Center for Medical Home Initiatives http://www.medicalhomeinfo.org , the March of Dimes http://www.marchofdimes.com , the Save Babies Through Screening Foundation http://www.savebabies.org and the National Newborn Screening and Genetics Resource Center
http://genes-r-us.uthscsa.edu

The American Academy of Pediatrics is an organization of 60,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated to the health, safety and well being of infants, children, adolescents and young adults.