Application of microdeletion and microduplication screening in preimplantation genetic testing: a case report

Preimplantation genetic testing-whole genome sequencing offers higher chromosomal resolution than conventional preimplantation genetic testing, enabling general microdeletion/duplication screening as well as the detection of difficult chromosomal variations. Patients undergoing in vitro fertilization now have the option to screen for additional clinically relevant conditions and explore family planning solutions for familial complex chromosomal abnormalities.