Prenatal Diagnosis: Heredity Disorders, Other Biochemical Diseases, And Disfiguring Birth Defects

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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 syndrome have hair
that feels similar to steel wool; in addition, they are retarded. The basic
defect in this condition concerns the way the body handles copper.
Only a few of these sex-linked disorders can now be diagnosed in the
fetus, (Stein, 1994). At the present time, the only recourse parents have in
the case of sex-linked diseases that are not prenatally diagnosable is to
determine ...

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are preformed to detect female carriers of
such diseases. For example, almost all carriers of hemophilia and Duchenne
muscular dystrophy can now be detected. A muscle enzyme, creatine phosphokinase,
which leaks into the blood is also often measured to give a higher probability
of recognizing a carrier. Unfortunately, because of recombination, the
carrier-detection tests for both hemophilia and muscular dystrophy do not
provide answers in 100 percent of cases. A negative result causes uncertainty
and leaves the question of carrier detection basically unanswered. Fortunately,
carrier-detection tests are steadily becoming possible in more of the sex-linked
and other ...

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