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Preimplantation Genetic Diagnosis (PGD)

 Preimplantation genetic test (PGT), a method recently adopted in the in vitro fertilization treatment, allows ill or carrier couples to have a healthy baby.  Embryos obtained through fertilization of egg with sperm during in vitro fertilization treatment can be checked against several genetic and chromosomal diseases before transfer to the mother’s uterus thanks to 1 or 2 blastomere samplings.

 

Couples with chromosomal or genetic disease can have a healthy baby upon application of PGT method to embryos obtained through in vitro fertilization treatment even when they do not have any infertility problems. This procedure is applied by taking 1 or 2 blastomere samples from the embryos obtained upon fertilization of eggs from mother with the sperms retrieved from father, and then healthy embryos are transferred into mother’s uterus.

 

PGT method is recommended in case of genetic diseases that cannot be treated after the birth.  The first PGT baby was born on October 2000 in the United States of America. PGT method was used and  the only healthy embryo was selected among 15 embryos and transferred into the uterus.

 

PGT method introduced in United States and Europe in the end of the 90s is used in our clinic when deemed necessary with certain patients. PGT method is recommended in case of repetitive miscarriages, unsuccessful in vitro fertilization attempts, advanced age or genetic or chromosomal diseases with one of the couples (disease or carrier). This method allows healthy embryos without any disease to be selected and transferred. For instance, the ornithine carbamoyl transferase deficiency disease that passes from mother to baby with the chromosome X and causes liver disease can be prevented with the PGT method by selecting the embryos without diseases and transferring them to uterus during in vitro fertilization treatment.

 

Today, PGT allows diagnosis of homophilia, Duken and muscle diseases such as neuromuscular dystrophy, tay-sachs, cystic fibrosis, sickle cell anaemia and fragile X syndrome, Down syndrome and some other chromosomal diseases.

 

The results are obtained within 24 hours after applying PGT method without damaging the embryos. This method is implemented in 3 different ways:

 

·        Polar object biopsy from mother’s ovaries (oocyte) (only diseases that come from the mother can be diagnosed)

·        Blastomere biopsy from 3 days old embryo (with 6-8 cells). (This is the most frequently used method in practice).

·        Blastocyst biopsy from 5 days old embryo. Today, a method called CHG is used for genetic diagnosis which reveals the count of 46 human chromosomes.

 

There are studies conducted to diagnose diseases such as cardiovascular diseases, diabetes, hypertension that are considered as genetically transmitted diseases and cancers with PGT in the future, in order to eliminate these diseases totally for the future generations.

 

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