Comprehensive chromosomal screening for preimplantation genetic testing: A mini-review

Abstract

Preimplantation genetic testing (PGT) consists of a group of genetic tests to evaluate preimplantation embryos before transfer to the uterus during in vitro fertilization (IVF). It effectively reduces the incidence of genetic defects at birth by preventing the transmission of inherited diseases to embryos. The use of PGT in IVF clinics has greatly improved clinical pregnancy outcomes for carriers of genetic abnormalities through the selection of embryos that are free from any genetic mutation/chromosomal anomalies. However, the accuracy of PGT in detecting aneuploidies and genetic mutations remains a point of contention due to the varied effectiveness of the techniques used. In recent years, a number of high-throughput assays have been developed to overcome the challenges associated with comprehensive chromosomal analysis. In this review, we will summaries the recent progress in using comprehensive chromosomal screening techniques, including array comparative genomic hybridization, single nucleotide polymorphism array, and next-generation sequencing, to evaluate chromosomal genetic defects.