Prenatal testing

The availability of prenatal genetic testing has enabled many
couples at high genetic risk to embark upon pregnancies that
they would otherwise have not undertaken. However, prenatal
testing, and the associated option of termination of pregnancy,
can have important psychological sequelae for pregnant women
and their partners. In the presence of a known family history,
genetic counselling is ideally offered in advance of pregnancy
so that couples have time to make a considered choice. This
also enables the laboratory to complete any family testing
necessary before a prenatal test can be undertaken.
Counselling should be provided within the antenatal setting
when prenatal genetic tests are offered to couples without a
previous family history, such as amniocentesis testing after a
raised Down syndrome biochemical screening result. To help
couples make an informed choice, information should be
presented about the condition, the chance of it occurring, the
test procedure and associated risks, the accuracy of the test,
and the potential outcomes of testing including the option of
termination of pregnancy. Couples at high genetic risk often
require ongoing counselling and support during pregnancy.
Psychologically, many couples cope with the uncertainty by
remaining tentative about the pregnancy until receiving the test
result. If the outcome of testing leads to termination of a
wanted pregnancy, follow-up support should be offered. Even if
favourable results are given, couples may still have some anxiety
until the baby is born and clinical examination in the newborn
period gives reassurance about normality. Occasionally,
confirmatory investigations may be indicated.