SeminarChorionic villus sampling and amniocentesis for prenatal diagnosis
Section snippets
Amniocentesis
Amniocentesis, considered the gold standard of invasive genetic prenatal diagnosis, was introduced in 19521 to identify haemolytic disease antenatally and has been routinely offered for genetic testing since the mid-1970s. First used to obtain fetal cells for karyotyping, midtrimester amniocentesis is now utilised for the molecular and biochemical diagnosis of those fetal disorders where analysis of amniocytes or amniotic fluid is informative, as well as providing a highly sensitive screen for
Safety issues
As with all invasive prenatal procedures, both amniocentesis and CVS occasionally lead to procedurerelated fetal loss. It is not easy to compare post-procedure loss rates for tests done at such different times; amniocentesis may seem to have a lower loss rate than the earlier CVS simply because there is a shorter time frame within which losses (spontaneous, procedure-related, genetic terminations) can occur. Also, the background loss rate is higher earlier in gestation. Thus many attempts to
Ethical issues
No discussion of the advantages of CVS, amniocentesis, or any other method can be complete without reference to ethical issues. Some of these are summarised in panel 2.
Mid-trimester amniocentesis vs CVS
For the woman, earlier genetic testing affords the opportunity for earlier intervention or elective termination if a fetal abnormality is found or for sooner repeat or confirmatory testing should the culture fail or the result be ambiguous. This must be weighed against the emotional, diagnostic and procedural ramifications of later testing should a fetus be shown to be abnormal: by 17-19 weeks a pregnancy is usually obvious and fetal movement has been felt, making a termination psychologically
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