HD49 - The Feasibility and Appropriateness of Expanding Current Required Screening Tests for Newborns

  • Published: 1994
  • Author: Department of Health Professions
  • Enabling Authority: House Joint Resolution 657 (Regular Session, 1993)

Executive Summary:
More than 95,000 babies born to Virginians each year are screened for seven genetic disorders that may cause mental retardation, hearing loss, developmental disabilities, liver disease or sudden death. The disorders are phenylketonuria, hypothyroidism, galactosemia, homocystinuria, Maple Syrup Urine Disease, biotinidase deficiency and sickle cell disease (Appendix B). Early detection and treatment diminish or eliminate the harmful effects of these disorders.

The 1993 General Assembly passed House Joint Resolution 657 charging the Virginia Department of Health to study the feasibility and appropriateness of expanding currently required screening tests for newborns to include testing for additional metabolic and other disorders, including medium chain acyl coA dehydrogenase (MCAD) deficiency.

Over the past ten years there has been an increasing interest in MCAD deficiency as a cause of one to three percent of cases of sudden infant death syndrome (SIDS). If recognized early and before irreversible problems develop, MCAD deficiency can be treated effectively with glucose and carnitine supplementation and the avoidance of fasting.

However, the technologies are not developed sufficiently to warrant population screening for MCAD deficiency at this time. Also, costs of specialized equipment and personnel are exorbitant relative to other newborn screening tests currently performed.

The study team recommends to the Governor and the Virginia General Assembly:

A. That MCAD deficiency not be added to the currently required screening tests for newborns.

B. That currently required screening tests for newborns not be expanded. Technology that is available for testing certain metabolic and other disorders is not amenable to screening of mass populations.

C. That the Virginia Department of Health study, once a year, the feasibility and appropriateness of expanding currently required screening tests for newborns.