Treatments

Preimplantation Genetic Diagnosis (PGD) is a significant advancement in the field of assisted reproduction. It involves checking the embryo’s health before it is implanted in the woman’s uterus and, therefore, before the beginning of the pregnancy.

The Importance of Preimplantation Genetic Diagnosis

With the development of assisted reproduction, biomedical advances, and genetic technology, it is now possible to conduct diagnostic tests on the embryo from the early stages of its development. This allows us to understand the physiological characteristics of the new organism and its genetic composition. Additionally, genetic causes responsible for the manifestation of serious diseases can be identified early on.

Applications of PGD in Various Cases

Preimplantation Genetic Diagnosis (PGD) is applied in the following scenarios:

• When there is a need for sex determination due to a history of X chromosome-related diseases.
• When both parents are carriers of a single-gene disease or suffer from a single-gene disease.
• In cases where the mother is of advanced reproductive age.
• In repeated failed in vitro fertilization (IVF) attempts despite good quality embryos and a healthy endometrium.

The Process of Preimplantation Genetic Diagnosis

Preimplantation Genetic Diagnosis (PGD) is carried out during the in vitro fertilization (IVF) process, specifically using the micro-fertilization method (ICSI method). In practice, a biopsy is performed on embryos, usually on the 5th day, to conduct genetic or chromosomal screening of the embryos. The geneticist examines 1-2 cells obtained from the biopsy and provides results within a few days regarding the health of the embryos. This method allows couples who are carriers of inherited genetic diseases to select and implant only embryos that are free of the genetic disorder.

Gender Verification and Sex-Linked Diseases

With Preimplantation Genetic Diagnosis (PGD), it is now possible to verify the sex of the embryo to identify any potential sex-linked diseases. However, preimplantation diagnosis cannot determine multifactorial genetic characteristics of the embryo, such as eye colour.

Selection of Embryo for Third-Party Health Reasons

Additionally, PGD can be used to select specific genetic characteristics of the embryo before implantation for the health benefit of a third party (saviour sibling). Some diseases, such as certain types of leukaemia and anaemia, require a bone marrow transplant for treatment. The donor must be immunologically compatible with the recipient. If a compatible donor is not found, parents have the option to conceive another baby who will be healthy and, at the same time, contribute to the treatment of the sick sibling. Through the PGD examination, healthy embryos that are immunologically compatible with the sick child are selected for embryo transfer. At birth, blood from the umbilical cord is collected and transplanted into the sick sibling. The baby is not at risk from the procedure, and at the same time, it saves the sick child.

PGD and PGS as a Solution

Preimplantation Genetic Diagnosis (PGD) and Pre-implantation Genetic Screening (PGS) are real solutions for couples with a family history of hereditary diseases who decide to have a child. These fertility treatments help avoid potential emotional and financial issues that may arise from the birth of a child with a genetic disorder.