Saturday, April 11, 2009

Severity of the disorder

Several important factors must be carefully considered before
prenatal testing, one of which is the severity of the disorder. For
many genetic diseases this is beyond doubt; some disorders lead
inevitably to stillbirth or death in infancy or childhood.
Requests for prenatal diagnosis in these situations are high.
The decision to terminate an affected pregnancy may be easier
to make if there is no chance of the baby having prolonged
survival. Equally important, however, are conditions that result
in children surviving with severe, multiple, and often
progressive, physical and mental handicaps, such as Down
syndrome, neural tube defects, muscular dystrophy and many
of the multiple congenital malformation syndromes. Again,
most couples are reluctant to embark upon another pregnancy
in these cases without prenatal diagnosis. Termination of
pregnancy is not always the consequence of an abnormal
prenatal test result. Some couples wish to know whether their
baby is affected so that they can prepare themselves for the
birth and care of an affected child.

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