Genetic testing for and detection of the fragile X mutation can be performed on the developing baby before birth through amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling.
When a woman is already pregnant, tests can be performed on either the cells of the fetus (amniocentesis) or the placenta (chorionic villus sampling) to determine whether the baby will have Tay-Sachs disease.
Disorders other than celiac disease can cause a similar type of villus atrophy, especially in children under two years of age, so rechecking the intestine is especially important for very young children.
Chorionic villus sampling (CVS) is a procedure that allows for prenatal diagnosis during the first trimester (generally between ten and 12 weeks of gestation, during the embryonic stage of development).
For some forms of CAH, prenatal diagnosis is possible through chronic villus sampling in the first trimester and by measuring certain hormones in the amniotic fluid during the second trimester.
If healing is evident, then gluten is reintroduced to the diet and a third biopsy is performed weeks to months later to see if the reintroduction of gluten results in villus atropy again.
As of the early 2000s it has been shown that biochemical diagnosis can be performed through chorionic villus testing, a procedure performed very early in the first trimester of pregnancy.
Testing can be done at 10-12 weeks gestation by a procedure called chorionic villus sampling (CVS) that involves removing a tiny piece of the placenta and analyzing DNA from its cells.
This can be accomplished using procedures such as an amniocentesis or chorionic villus sampling (CVS), after which parents can explore their options relating to the pregnancy.
An amniocentesis or chorionic villus sampling can be used to obtain fetal cells which can be analyzed for the RB1 gene change/deletion or chromosomal abnormality.