Comprehensive genetic screening of in vitro fertilized embryos using preimplantation genetic testing for monogenic...

Preimplantation genetic testing for monogenic disorders (PGT-M) in conjunction with in vitro fertilization (IVF) has dramatically improved the ability to eliminate the development of genetic disorders among newborns. The incorporation of Sanger sequencing with PGT-M has enhanced accurate diagnosis and decreased the risk of developing genetic disorders.

A total of 295 embryos were collected from 47 IVF cases, and purification was performed after extraction; spectrophotometric analysis with a Nanodrop was conducted to measure the concentration and purity of total DNA. The sequencing data were obtained from blastomere cells, which were subsequently lysed, after which the DNA was amplified by multiple displacement amplification (MDA) and analysed for the presence of single-gene disorders. The frequency of various genetic disorders indicates the number of cases associated with a specific disorder.

Beta thalassaemia was the most common disorder, followed by phenylketonuria (PKU) and mucopolysaccharidosis type II (Hunter syndrome); Alazami syndrome, deafness 2, and Ehlers-Danlos syndrome each occurred only once.

This study demonstrates the first step in our area to implement the Sanger sequencing technique with PGT-M before oocyte retrieval. The primary goal was to combine this novel method with clinical practices and reveal the possible factors that may impact the success of the IVF procedure.