Prenatal Diagnosis: Heredity Disorders, Other Biochemical Diseases, A
Prenatal Diagnosis: Heredity Disorders, Other Biochemical Diseases, and
Disfiguring Birth Defects
There are over 250 recognized sex-linked diseases, affecting every organ
system. Of these, 95% affect males, (Emery, 1968). Despite these many sex-
linked diseases, at present prenatal diagnosis can specifically be made in fewer
than 40 diseases. (Emery, 1968). These sex-linked diseases are individual rare
and some are named after physicians who described them, for example, Hemophilia
A and B, Duchenne muscular dystrophy, fragile-X syndrome, Fabry disease, Hunter
syndrome, Lesch-Nyhan syndrome, and Menkes steely-hair syndrome. The following
discourse considers the reasons for the importance of prenatal diagnosis,
heredity disorders, and disfiguring birth defects.(Nora,1989).
Fabry disease is a biochemical disorder caused by a missing enzyme.
(Mulinsky, 1989). A complex fatty substance accumulates in the body because of
the missing enzyme which would ordinarily break this compound into
pieces.(Nora,1989). This missing enzyme causes kidney and blood-vessel problems
that lead to high blood pressure, kidney failure and strokes.(Mulinsky, 1989).
After many years of symptoms, most patients have died in their thirties and
forties owing to a lack specific treatment.
A biochemical disorder also caused by a missing enzyme is the Lesch-
Nyhan syndrome, an extremely unpleasant disorder characterized not only by
profound mental retardation and features of brain damage (stiff limbs with
peculiar movements), but also self-mutilation, (Jones, 1988). Given good care
and attention however, these patients may live on many years in their profoundly
retarded state. They often require restraining, tying their hands, to prevent
them from mutilating themselves.
Another Affected children with Menkes steely-hair...
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