Application of cell free DNA in ART

Various biopsy and sampling methods are used for preimplantation genetic diagnosis (PGD) of embryo. This method benefits blastomer/trophectoderm biopsy to improve the clinical outcome of in vitro fertilization (IVF). However, all of these procedures are invasive and have adverse effects on embryo development. Additionally, these procedures require expensive equipment and well-experienced technicians. Regarding these limitations, designing non-invasive methods is necessary. One of the recently proposed non-invasive and applicable methods is cell free DNA (cfDNA) molecule evaluation that have opened up exciting opportunities in the molecular diagnosis of embryo and fetus chromosomal aneuploidy. cfDNA is present in body fluids; especially blood, follicular fluid, amniotic fluid, spent embryo culture medium (SCM) and blastocoel fluid. Overall, this review highlights the cfDNA biomarker might constitute a supplemental tool for improving IVF and pregnancy outcomes, female infertility management. However, the successful application of cfDNA demands an understanding of its biological properties, kinetics, time of collection, high sensitivity and specificity cfDNA detection methods, and their limitation and challenges in the clinical settings. In this review we also describe ethical aspects of cfDNA testing.

Automated summary

Various biopsy and sampling methods are used for preimplantation genetic diagnosis of embryos. These invasive procedures have adverse effects on embryo development and are expensive. Therefore, non-invasive methods, such as cell free DNA (cfDNA) evaluation, have been proposed. cfDNA can be found in body fluids, such as blood, follicular fluid, amniotic fluid, spent embryo culture medium, and blastocoel fluid. This review highlights the potential of cfDNA as a supplemental tool for improving IVF and pregnancy outcomes, as well as female infertility management. However, successful application of cfDNA requires understanding of its biological properties, collection time, detection methods with high sensitivity and specificity, as well as limitations and challenges in clinical settings.