Genetic services in the United States
S. J. Sepe, J. S. Marks, G. P. Oakley and A. F. Manley
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).
