Cell-free DNA in spent culture medium effectively reflects the chromosomal status of embryos following culturing beyond implantation compared to trophectoderm biopsy

被引:34
作者
Shitara, Akihiro [1 ]
Takahashi, Kazumasa [1 ]
Goto, Mayumi [1 ]
Takahashi, Harunori [1 ]
Iwasawa, Takuya [1 ]
Onodera, Yohei [1 ]
Makino, Kenichi [1 ]
Miura, Hiroshi [1 ]
Shirasawa, Hiromitsu [1 ]
Sato, Wataru [1 ]
Kumazawa, Yukiyo [1 ]
Terada, Yukihiro [1 ]
机构
[1] Akita Univ, Dept Obstet & Gynecol, Grad Sch Med Hondo, Akita, Japan
关键词
SELF-ORGANIZATION; SUPPLEMENTATION; DIFFERENTIATION; BLASTOCYSTS;
D O I
10.1371/journal.pone.0246438
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
This prospective study evaluated the accuracy of non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) using cell-free DNA in spent culture medium, as well as that of preimplantation genetic testing for aneuploidy (PGT-A) using trophectoderm (TE) biopsy after culturing beyond implantation. Twenty frozen blastocysts donated by 12 patients who underwent IVF at our institution were investigated. Of these, 10 were frozen on day 5 and 10 on day 6. Spent culture medium and TE cells were collected from each blastocyst after thawing, and the embryos were cultured in vitro for up to 10 days. The outgrowths after culturing beyond implantation were sampled and subjected to chromosome analysis using next-generation sequencing. Chromosomal concordance rate, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), false-positive rate (FPR), and false-negative rate (FNR) of niPGT-A and PGT-A against each outgrowth were analyzed. The concordance rate between the niPGT-A and outgrowth samples was 9/16 (56.3%), and the concordance rate between the PGT-A and outgrowth samples was 7/16 (43.8%). NiPGT-A exhibited 100% sensitivity, 87.5% specificity, 88.9% PPV, 100% NPV, 12.5% FPR, and 0% FNR. PGT-A exhibited 87.5% sensitivity, 77.8% specificity, 87.5% PPV, 75% NPV, 14.3% FPR, and 22.2% FNR. NiPGT-A may be more accurate than PGT-A in terms of ploidy diagnostic accuracy in outgrowths.
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页数:13
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共 37 条
[11]  
Hardy K, 1999, REV REPROD, V4, P125
[12]   Cell death in the mammalian blastocyst [J].
Hardy, K .
MOLECULAR HUMAN REPRODUCTION, 1997, 3 (10) :919-925
[13]   Epiblast Formation by TEAD-YAP-Dependent Expression of Pluripotency Factors and Competitive Elimination of Unspecified Cells [J].
Hashimoto, Masakazu ;
Sasaki, Hiroshi .
DEVELOPMENTAL CELL, 2019, 50 (02) :138-+
[14]   Pushing the limits of detection: investigation of cell-free DNA for aneuploidy screening in embryos [J].
Ho, Jacqueline R. ;
Arrach, Nabil ;
Rhodes-Long, Katherine ;
Ahmady, Ali ;
Ingles, Sue ;
Chung, Karine ;
Bendikson, Kristin A. ;
Paulson, Richard J. ;
McGinnis, Lynda K. .
FERTILITY AND STERILITY, 2018, 110 (03) :467-+
[15]   Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy [J].
Huang, Lei ;
Bogale, Berhan ;
Tang, Yaqiong ;
Lu, Sijia ;
Xie, Xiaoliang Sunney ;
Racowsky, Catherine .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2019, 116 (28) :14105-14112
[16]   Minimally invasive preimplantation genetic testing using blastocyst culture medium [J].
Jiao, Jiao ;
Shi, Bei ;
Sagnelli, Matthew ;
Yang, Dalei ;
Yao, Yaxin ;
Li, Wenlu ;
Shao, Lin ;
Lu, Sijia ;
Li, Da ;
Wang, Xiuxia .
HUMAN REPRODUCTION, 2019, 34 (07) :1369-1379
[17]   The clinicians' dilemma with mosaicism-an insight from inner cell mass biopsies [J].
Lawrenz, B. ;
El Khatib, I. ;
Linan, A. ;
Bayram, A. ;
Arnanz, A. ;
Chopra, R. ;
De Munck, N. ;
Fatemi, H. M. .
HUMAN REPRODUCTION, 2019, 34 (06) :998-1010
[18]   Should every embryo undergo preimplantation genetic testing for aneuploidy? A review of the modern approach to in vitro fertilization [J].
Maxwell, Susan M. ;
Grifo, James A. .
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY, 2018, 53 :38-47
[19]   Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts [J].
McArthur, SJ ;
Leigh, D ;
Marshall, JT ;
de Boer, KA ;
Jansen, RPS .
FERTILITY AND STERILITY, 2005, 84 (06) :1628-1636
[20]   Chromosome abnormalities and their relationship to morphology and development of human embryos [J].
Munné, S .
REPRODUCTIVE BIOMEDICINE ONLINE, 2006, 12 (02) :234-253