PRENATAL TESTING FOR THALASSAEMIA
If you have alpha or beta Thalassaemia trait and are considering having a child or are already pregnant, your partner should be tested to see if he or she has the Thalassaemia trait. If you both have Thalassaemia trait, there are several things you can do.
Inform your obstetrician about your Thalassaemia trait. Discuss what it might mean for your unborn child. If necessary, share this book with your doctor.
If you want to determine whether your unborn child has any form of Thalassaemia, there are two kinds of tests you can request.
Amniocentesis is performed in the second trimester of pregnancy, after about 15 weeks of gestation. Using ultrasound as a guide, the doctor with draws 2-3 tablespoons of amniotic fluid from the motherís womb through a very thin needle inserted in the motherís abdomen. Fetal cells that are floating free in the amniotic fluid are then analyzed for the Thalassaemia mutations.
CHORIONIC VILLUS SAMPLING (CVS)
CVS can be performed somewhat earlier than amniocentesis, at about 10-11 weeks of pregnancy. In this test, the doctor removes a small sample of the chorionic villi, or the cells that will form the placenta. The cells are removed either with a thin needle inserted in the motherís abdomen or with a thin catheter inserted in the vagina. These cells, which contain the same genetic information as the fetus, are analyzed for the Thalassaemia mutations.
If you are interested in either of these tests, ask your obstetrician to refer you to a prenatal testing cancer.