- Carriers of a pathological gene
There are couples where one or even sometimes both are carriers of a pathological gene, whose expression in the foetus can lead to the appearance of a significant disease. Some of the most common such diseases are diseases like Mediterranean anaemia, Cystic fibrosis, Spinal Muscular Atrophy (SMA) and many others. These couples can benefit from the preimplantation diagnosis and choose to embryo transfer the embryos that are not carriers of these diseases.
- Existing child that suffers from a genetic disease
Preimplantation diagnosis also applies to couples that already have a child with a genetic disease that can be treated with stem cells therapy from a sibling who does not suffer from the same disease. Such examples are Mediterranean anaemia, chronic granulomatous disease and many more.
How does it work? The specific gene that is responsible for the disease is determined and in vitro fertilisation follows. From all the created embryos, the ones that are not carriers of the disease but also tissue compatible with the sibling in need are chosen through preimplantation diagnosis for embryo transfer. Once the pregnancy occurs and develops normally, umbilical cord stem cells are collected during childbirth and transplanted to the sick sibling. This is a great moment in a doctor’s career to be able to help a family get rid of an eternal curse such as these long-term illnesses.
- Recurrent miscarriage
An additional indication for preimplantation diagnosis and genetic analysis of embryos from IVF is the repetitive miscarriages. Couples suffering from this problem are probably the most unfortunate, as they objectively have no problem conceiving, they have usually seen a positive pregnancy tests several times, but they never managed to complete a pregnancy. These patients must undergo a thorough examination and once the organic causes of miscarriage are ruled out, they must perform preimplantation diagnosis and genetic testing on their embryos.
- Unexplained infertility
Respectively, patients with unexplained unsuccessful IVF attempts can also benefit from the application of the same preimplantation diagnosis method.
