Origin and Composition of Cell-Free DNA in Spent Medium From Human Embryo Culture During Preimplantation Development EDITORIAL COMMENT

摘要

Chromosomal aneuploidy is common. It occurs in 20% to 80% of human embryos. An affected newborn or a miscarriage can result when aneuploid embryos reach the blastocyst stage and implant into the uterus. Aneuploidy testing in assisted reproduction techniques is required to identify affected embryos. Preimplantation genetic testing of aneuploidies (PGT-A) has enabled analysis of the full karyotype in a single cell with high sensitivity and specificity. Currently available techniques require a biopsy during embryonic development of either a blastomere on day 3 or few trophectoderm cells on day 5. Noninvasive alternatives are needed in assisted reproduction to identify abnormal embryos. Recent studies suggest that noninvasive PGTmay be possible. DNA molecules secreted into the culture media by blastocytes or other associated sources may derive from cells discarded by embryos. The feasibility of chromosomal diagnosis from analysis of DNA from spent culture media has been demonstrated, but there is a wide variation in the percentages of informative samples; reported values range from 3.5% to 85.7%.