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Thalassemia and Pregnancy: Genetic Tests

If a women or her spouse has a family history of thalassemia, they may want to consider genetic testing before becoming pregnant. Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier of thalassemia trait. If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus that has tested positive for thalassemia.

Thalassemia and Pregnancy: Prenatal Testing

Prenatal testing for thalassemia can be done when a woman is 11 weeks pregnent using chorionic villi sampling (CVS). CVS involves the removal of a tiny piece of the placenta, which will then be tested. Prenatal testing can also be done with an amniocentesis when a woman is 16 weeks pregnant. In this procedure, a needle is used to take a sample of the fluid surrounding the baby, which will then be tested.

Thalassemia and Pregnancy: Assisted Reproductive Therapy

Assisted reproductive therapy is an option for people who are carriers and who don't want to risk giving birth to a child with thalassemia.
A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction with in vitro fertilization, may enable parents who have thalassemia or who carry the trait to give birth to healthy babies. Embryos created in vitro are tested for the thalassemia gene before being implanted into the mother, allowing only healthy embryos to be selected.
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Last reviewed by: Arthur Schoenstadt, MD
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