Screening & prenatal diagnosis

Because thalassaemia is inherited, testing helps families plan. Carrier screening — a simple blood test — tells prospective parents whether they carry the trait; when both partners are carriers, a genetic counsellor explains the 1-in-4 chance and the options, without pressure.

Prenatal diagnosis can check whether a baby is affected early in pregnancy, using a small sample of the placenta (chorionic villus sampling, around 11–14 weeks) or of the fluid around the baby (amniocentesis, a little later). Some couples choose IVF with pre-implantation genetic testing to select an unaffected embryo before pregnancy.

In some countries, newborns are screened so affected babies can start care early. These are personal decisions, shaped by your own values — a genetic counsellor helps you weigh them.