UNIVERSAL NEWBORN SCREENING

INTRODUCTION
TESTING FOR DISORDERS AT BIRTH
TANDEM MASS SPECTROMETRY
METABOLIC DISORDERS FOUND THROUGH NEWBORN SCREENING
TABLE : NEWBORN SCREENING BY STATE
NEWBORN SCREENING AND PARENT SUPPORT GROUPS
newborn screening and the Patients' Bill of rights act 2001
newborn screening: a blueprint for the future
editorial advisory board and contributors

Special Acknowledgements
The Child Neurology Society (CNS) has endorsed this monograph on universal newborn screening.

Serving the Family From Birth to the Medical Home, Newborn Screening: A Blueprint for the Future (pages 19-22) has been reproduced by permission of PEDIATRICS,
Vol #106, #2, 2000.

Introduction

To be forewarned is to be forearmed is a phrase that captures many of the virtues of newborn screening.  Universal screening of newborn babies for inherited conditions provides parents, family members, physicians and other health care providers with important information before potential harm has been done to an unsuspecting, vulnerable infant.  The pain experienced by parents who suddenly lose a healthy infant to a potentially treatable disease must be unbearable; and we know that three or more percent of infants who suffer sudden death have a diagnosable inherited metabolic disorder that is detectable shortly after birth, in the asymptomatic state, by laboratory screening.

Universal screening of newborn babies began in the United States almost 40 years ago when the cause of phenylketonuria (PKU) was discovered and a relatively simple test (the Guthrie test) was designed to detect it.  PKU is an incurable metabolic condition that causes severe mental retardation, seizures, autistic behavior and a shortened life span.  If identified early enough, it can be treated effectively with a highly restrictive diet and individuals can live reasonably normal lives.  This condition also is instructive because it points out the vulnerability of the developing brain.  The Guthrie test has spared thousands of children throughout the world.  The long-term neurological consequences of untreated phenylketonuria have been mitigated; and society has been relieved of the economic burden associated with lost productivity and long-term care that is associated with the untreated illness.

Other incurable but treatable disorders were recognized in the decades following Guthrie's original contribution, and similar tests were devised for early identification and intervention.  Every state began to test its newborn infants for PKU and for congenital hypothyroidism.  As more tests became available, each state established its own testing requirements.  Recently, methodology has been developed that can test for 30 or more conditions at once.  This new methodology has high sensitivity and specificity, and is economical as well.  However, most of the medical conditions being detected are rare, and there is much controversy about expanding testing throughout the country.  Nevertheless, these diverse conditions, in the aggregate, may affect as many as one in every 5,000 newborn infants - or 800 to 1,000 new cases annually.
 
Physicians, public health officials, parents, scientists, economists, advocates for people with disabilities, lawyers, ethicists and many other groups are searching for information, asking critical questions, and trying to arrive at informed decisions.  Major changes in the 1990s in the way health care is delivered in the United States also have had an impact on this discussion.  The emerging success of the human genome project and the vast amount of new information it offers will only serve to expand this national dialogue.  The Maternal and Child Health Bureau of the Health Resources and Services Administration of the Federal Department of Health and Human Services, and the American Academy of Pediatrics, convened a Task Force on Newborn Screening to clarify the issues, answer critical questions, and provide constructive recommendations.
 
This monograph includes a history of newborn screening in the United States, outlines the various methods of testing, and describes the 30+ conditions that now can be detected and treated.  The American Academy of Pediatrics also has provided permission to include the Executive Summary of the Task Force findings.  Our hope is that this monograph will offer answers to your questions or, at the very least, will provide information that will aid you in doing your own research.