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  Vol. 248 No. 14, October 8, 1982 TABLE OF CONTENTS
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Genetic Services in the United States

Stephen J. Sepe, MPH; James S. Marks, MD; Godfrey P. Oakley, MD; Audrey F. Manley, MD

JAMA. 1982;248(14):1733-1735.


Abstract

In fiscal years 1979 and 1980, the Genetic Diseases Service Branch of the Health Services Administration funded 34 state genetic service programs in the United States through monies from the National Genetic Diseases Act (PL 94-278) of 1976. During the two-year period, 131,818 at-risk individuals were provided with genetic counseling. Analyses of amniotic fluid were performed on 42,003 specimens, with 436 abnormal fetuses (1%) detected. Utilization ratios of amniocentesis for advanced maternal age ranged from a low of 5% to a high of 49%. Screening programs for inborn errors of metabolism reported testing 3,158,521 specimens. The numbers of affected children detected nationally were 195 with phenylketonuria (1:16,000), 536 with hypothyroidism (1:5,900), 25 with galactosemia (1:39,685), eight with maple syrup urine disease (1:86,984), and eight with homocystinuria (1:139,008).

(JAMA 1982;248:1733-1735)



Author Affiliations

From the Birth Defects Branch, Center for Environmental Health, Centers for Disease Control, Atlanta (Mr Sepe and Drs Marks and Oakley); and the Health Services Administration, Rockville, Md (Dr Manley).


Footnotes

Reprint requests to Birth Defects Branch, Centers for Disease Control, Atlanta, GA 30333 (Mr Sepe).



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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Serving the Family From Birth to the Medical Home. Newborn Screening: A Blueprint for the Future - A Call for a National Agenda on State Newborn Screening Programs
Pediatrics 2000;106:389-422.
FULL TEXT  





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