Research Information System
in: Holistic Approach to Assisted Reproductive Technology, KENAN DEMİR-RÜMEYSA YILMAZ GÖÇ, Editor, NOVA Science Publishers Inc. , New York, pp.335-345, 2023
With the advancement of genetic science and the development of diag
nostic and examination methods, the diagnostic rate of genetic dis
eases is increasing day by day. Today, early diagnosis of the disease in
future generations and even the birth of healthy individuals with healthy
embryos can be ensured with genetic counseling and advanced exami
nation studies. The preimplantation genetic test (PGT) refers to any test
that evaluates whether oocytes or embryos are healthy. These tests are
divided mainly into three categories: PGT-A, which evaluates numerical
chromosomal disorders, namely aneuploidies, PGT-M, which evaluates
single gene diseases, and PGT-SR, which evaluates structural chromo
somal abnormalities. This evaluation, which was originally performed
using Fluorescence in Situ Hybridization (FISH), is now also performed
using different techniques such as Comparative Genomic Hybridization
(aCGH), Next Generation Sequencing (NGS), and Real-Time Quantitative
Polymerase Chain Reaction (qPCR)