Although the IVF method leads to great hopes, it is also a stressful process for couples. Factors such as the low probability of pregnancy or not, and the baby being born with genetic problems may increase the anxiety of the couples.

Thanks to the advances in genetics, the diagnosis of genetic diseases can be made at the gene level. Methods that increase the success rates of IVF treatment and screening for single gene diseases before the embryo is transferred to the uterus reduce the risks that couples who want to have a child may face.

Single gene diseases can be defined as hereditary diseases caused by changes in a specific gene in a person’s DNA or mutations. For example, it can be stated that diseases such as Sickle Cell Anemia, Spinal Muscular Atrophia (SMA), Alpha Thalassemia, Cystic Fibrosis and Beta Thalassemia are among the single gene diseases. It is known that over 4000 single gene diseases have been defined today. The fact that each of the couples who want to have a child with the in vitro fertilization method is a carrier or a patient for autosomal recessive diseases, and one of them is sick for autosomal dominant diseases requires screening for single gene diseases.

Preimplantation Genetic Diagnosis (PGD)

It is a method used to detect genetic anomalies in the egg cell before zygote formation occurs or in the embryo after zygote formation occurs. The PGD method, which was first applied in our country in 1998, is widely preferred today and even alternatives to the method are offered.

It has been shown that the reliability of the PGD method is as high as 99% in the detection of single gene diseases, numerical and structural chromosomal abnormalities.

Thanks to preimplantation genetic diagnosis, it is possible to detect and distinguish between healthy and unhealthy embryos. PGD continues to be the most frequently used method to understand whether the embryo is genetically healthy during the pre-pregnancy period.

Karyomapping

Although the PGD process is functional, it is also known that it has some disadvantages such as the preliminary preparation phase requiring a period of 2 – 4 months. A similar preliminary preparation process is not required in the karyomapping application. The presence of an affected relative or a child with the disease for the gene and DNA obtained from prospective parents; It is sufficient for the application and diagnosis. In this method, determination of single nucleotide changes, namely SNP genotyping, is used. SNP regions are screened for all embryos, and in case of genetic defect, it is determined from which parent it originated. Chromosomal abnormalities can also be detected while diagnosing a single gene disease.