Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy

• DOI: 10.1073/pnas.1907472116
• Publication Date: 2019-06-25T02:00:17Z
• Authors: Lei Huang; Berhan Bogale; Yaqiong Tang; Sijia Lu; Xiaoliang Sunney Xie; Catherine Racowsky
• Keywords: Inner cell mass; Preimplantation Genetic Diagnosis; Concordance

Preimplantation genetic testing for aneuploidy (PGT-A) with trophectoderm (TE) biopsy is widely applied in vitro fertilization (IVF) to identify aneuploid embryos. However, potential safety concerns regarding and restrictions only those embryos suitable pose limitations. In addition, embryo mosaicism gives rise false positives negatives PGT-A because the inner cell mass (ICM) cells, which give fetus, are not tested. Here, we report a critical examination of efficacy noninvasive preimplantation (niPGT-A) spent culture media human blastocysts by analyzing cell-free DNA, reflects ploidy both TE ICM. Fifty-two frozen donated results were thawed; each their medium was collected after 24-h analyzed next-generation sequencing (NGS). niPGT-A TE-biopsy compared corresponding embryos, taken as true reporting. With removal all corona-cumulus false-negative rate (FNR) found be zero. By applying an appropriate threshold mosaicism, positive predictive value (PPV) specificity much higher than PGT-A. Furthermore, concordance rates chromosome copy numbers These suggest that less prone errors associated more reliable