Recognition of multiple malformation syndromes is important
to answer the questions that parents of all babies with
congenital malformations ask, namely:
What is it?
Why did it happen?
What does it mean for the child’s future?
Will it happen again?
Parents often experience feelings of guilt after the birth of an
abnormal child, and time spent discussing what is known about
the aetiology of the abnormalities may help to alleviate some of
their fears. They also need an explanation of what to expect in
terms of treatment, anticipated complications and long term
outlook. Accurate assessment of the risk of recurrence cannot be
made without a diagnosis, and the availability of prenatal
diagnosis in subsequent pregnancies will depend on whether
there is an associated chromosomal abnormality, a structural
defect amenable to detection by ultrasonography, or an
identifiable biochemical or molecular abnormality.
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