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DOI	10.1073/pnas.1907472116
	Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy
	Huang L.; Bogale B.; Tang Y.; Lu S.; Xie X.S.; Racowsky C.
发表日期	2019
ISSN	0027-8424
起始页码	14105
结束页码	14112
卷号	116 期号:28
英文摘要	Preimplantation genetic testing for aneuploidy (PGT-A) with trophectoderm (TE) biopsy is widely applied in in vitro fertilization (IVF) to identify aneuploid embryos. However, potential safety concerns regarding biopsy and restrictions to only those embryos suitable for biopsy pose limitations. In addition, embryo mosaicism gives rise to false positives and false negatives in PGT-A because the inner cell mass (ICM) cells, which give rise to the fetus, are not tested. Here, we report a critical examination of the efficacy of noninvasive preimplantation genetic testing for aneuploidy (niPGT-A) in the spent culture media of human blastocysts by analyzing the cell-free DNA, which reflects ploidy of both the TE and ICM. Fifty-two frozen donated blastocysts with TE biopsy results were thawed; each of their spent culture medium was collected after 24-h culture and analyzed by next-generation sequencing (NGS). niPGT-A and TE-biopsy PGT-A results were compared with the sequencing results of the corresponding embryos, which were taken as true results for aneuploidy reporting. With removal of all corona-cumulus cells, the false-negative rate (FNR) for niPGT-A was found to be zero. By applying an appropriate threshold for mosaicism, both the positive predictive value (PPV) and specificity for niPGT-A were much higher than TE-biopsy PGT-A. Furthermore, the concordance rates for both embryo ploidy and chromosome copy numbers were higher for niPGT-A than TE-biopsy PGT-A. These results suggest that niPGT-A is less prone to errors associated with embryo mosaicism and is more reliable than TE-biopsy PGT-A. © 2019 National Academy of Sciences. All rights reserved.
英文关键词	Culture medium; Human blastocyst; ICSI; Noninvasive PGT-A; Preimplantation genetic testing
语种	英语
scopus关键词	DNA; adult; aneuploidy; Article; biopsy; blastocyst; cell culture; clinical effectiveness; controlled study; ectoderm; embryo; false negative result; female; gene dosage; genetic screening; human; human cell; human tissue; in vitro fertilization; inner cell mass; intermethod comparison; laboratory; major clinical study; male; mosaicism; next generation sequencing; non invasive procedure; predictive value; preimplantation genetic diagnosis; priority journal
来源期刊	Proceedings of the National Academy of Sciences of the United States of America
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/160416
作者单位	Huang, L., Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, United States, Department of Obstetrics and Gynecology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, United States; Bogale, B., Department of Obstetrics and Gynecology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, United States; Tang, Y., Beijing Advanced Innovation Center for Genomics, Peking University, Beijing, 100871, China, Biomedical Pioneering Innovation Center, Peking University, Beijing, 100871, China; Lu, S., Department of Clinical Research, Yikon Genomics Company, Ltd., Shanghai, 201499, China; Xie, X.S., Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, United States, Beijing Advanced Innovation Center for Genomics, Peking University, Beijing, 100871, China, Biomedical Pioneering Innovation Center, Peking University, Beijing, 100871, China; Racowsky, C., Department of Obstetrics and Gynecology, Brigham a...
推荐引用方式 GB/T 7714	Huang L.,Bogale B.,Tang Y.,et al. Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy[J],2019,116(28).
APA	Huang L.,Bogale B.,Tang Y.,Lu S.,Xie X.S.,&Racowsky C..(2019).Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy.Proceedings of the National Academy of Sciences of the United States of America,116(28).
MLA	Huang L.,et al."Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy".Proceedings of the National Academy of Sciences of the United States of America 116.28(2019).