Two main tests during pregnancy are available – chorionic villus sampling and amniocentesis. Both require a sample of the baby’s DNA to be tested. Both procedures carry a small risk of miscarriage of 1%.
Chorionic villus sampling (CVS) is done at around 12 weeks of pregnancy. Amniocentesis is done at 16 weeks. You don’t need both tests.
The results are available after about a week, and you can then take the decision on whether to carry on with the pregnancy.
If the pregnancy shows they have the mutated gene, you would be offered the choice of termination or continuing with the pregnancy, if you continue with the pregnancy then you would be advised to contact a specialist for guidance. This is a very personal decision to make. Alex TLC can put you in touch with others who have been in this difficult position.