icon fsr

文献詳細

雑誌文献

臨床婦人科産科75巻1号

2021年01月発行

合併増大号 今月の臨床 生殖医療の基礎知識アップデート―患者説明に役立つ最新エビデンス・最新データ

生殖補助医療

PGT-Aの現状

著者: 佐藤剛1

所属機関: 1名古屋市立大学大学院医学研究科産科婦人科学

ページ範囲:P.134 - P.143

文献概要

●PGT-Aにより胚移植あたりの妊娠率,生児獲得率に改善がみられることが報告されているが,症例あたりの有用性は示されていない.

●モザイク胚の存在はPGT-Aの解析精度に影響を与え,その取り扱いについては議論が続いている.

●近年,niPGT-Aに関する研究が盛んに行われ,その精度の向上や効果が報告されており,今後の普及と臨床への早期の導入が期待される.

●日本でのPGT-Aの多施設共同研究が現在進行中である.そのパイロット試験では,胚移植あたりの臨床妊娠率,生産率は,PGT-A群で改善がみられたが,症例あたりでは対照群と差がなかった.

参考文献

1)日本産科婦人科学会 : 「着床前診断」に関する見解.2018年6月改定
2)Munne S, et al : Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 8 : 2185-2191, 1993
3)Mastenbroek S, et al : Preimplantation genetic screening : asystematic review and meta-analysis of RCTs. Hum Reprod Update 2 17 : 454-466, 2011
4)Chen M, et al : Can Comprehensive Chromosome Screening Technology Improve IVF/ICSI Outcomes? A Meta-Analysis. Plos One 10 : e0140779, 2015
5)Coonen E, et al : ESHRE PGT Consortium data collection XVI-XVIII : cycles from 2013 to 2015. Hum Reprod Open 4 : 1-11, 2020
6)Kang H, et al : Preimplantation genetic screening : who benefits? Fertil Steril 106 : 597-602, 2016
7)Kushnir VA, et al : SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts. Fertil Steril 106 : 75-79, 2016
8)Rubio C, et al : In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age : a randomized, controlled study. Fertil Steril 107 : 1122-1129, 2017
9)Ubaldi FM, et al : Preimplantation genetic diagnosis for aneuploidy testing in women older than 44 years : a multicenter experience. Fertil Steril 107 : 1173-1180, 2017
10)Sacchi L, et al : Preimplantation Genetic Testing for Aneuploidy Improves Clinical, Gestational, and Neonatal Outcomes in Advanced Maternal Age Patients Without Compromising Cumulative Live-Birth Rate. J Assist Reprod Genet 36 : 2493-2504, 2019
11)Viñals Gonzalez X, et al : Euploid blastocysts implant irrespective of their morphology after NGS-(PGT-A)testing in advanced maternal age patients. J Assist Reprod Genet 36 : 1623-1629, 2019
12)Murphy LA, et al : To test or not to test? A framework for counselling patients on preimplantation genetic testing for aneuploidy(PGT-A).Hum Reprod 34 : 268-275, 2019
13)Munne S, et al : Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients : a multicenter randomized clinical trial. Fertil Steril 112 : 1071-1079, 2019
14)Haviland MJ, et al : Comparison of pregnancy outcomes following preimplantation genetic testing for aneuploidy using a matched propensity score design. Hum Reprod 35 : 2356-2364, 2020
15)Murugappan G, et al : Intent to treat analysis of in vitro fertilization and preimplantation genetic screening versus expectant management in patients with recurrent pregnancy loss. Hum Reprod 31 : 1668-1674, 2016
16)Sui Y, et al : In vitro fertilization with single-Nucleotide polymorphism microarray-based preimplantation genetic testing for aneuploidy significantly improves clinical outcomes in infertile women with recurrent pregnancy loss : A randomized controlled trial. Rprod Dev Med 4 : 32-41, 2020
17)Franasiak J, et al : The nature of aneuploidy with increasing age of the female partner : A review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril 101 : 656-663, 2014
18)Neal S, et al : Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage. Fertil Steril 110 : 896-904, 2018
19)Somigliana E, et al : Cost-effectiveness of preimplantation genetic testing for aneuploidies. Fertil Steril 111 : 1169-1176, 2019
20)Paulson RJ, et al : Preimplantation genetic screening : what is the clinical efficiency? Fertil Steril 108 : 228-230, 2017
21)Chuang T, et al : Concordance between different trophectoderm biopsy sites and the inner cell mass of chromosomal composition measured with a next-generation sequencing platform. Mol Hum Reprod 24 : 593-601, 2018
22)Popovic M, et al : Chromosomal mosaicism in human blastocysts : The ultimate challenge of preimplantation genetic testing? Hum Reprod 33 : 1342-1354, 2018
23)Victor, Andrea R, et al : Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst. Hum Reprod 34 : 181-192, 2019
24)Greco E, et al : Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts. N Eng J Med 373 : 2089-2090, 2015
25)Munne S, et al : Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing. Fertil Steril 108 : 62-71, 2017
26)Fragouli E, et al : Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid-aneuploid blastocysts. Hum Genet 136 : 805-819, 2017
27)Lledo B, et al : Implantation potential of mosaic embryos. Syst Biol Reprod Med 63 : 206-208, 2017
28)Spinella F, et al : Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments. Fertil Steril 109 : 77-83, 2018
29)Victor A, et al : One hundred mosaic embryos transferred prospectively in a single clinic : exploring when and why they result in healthy pregnancies. Fertil Steril 111 : 280-293, 2019
30)Zhang L, et al : Rates of live birth after mosaic embryo transfer compared with euploid embryo transfer. J Assist Reprod Genet 36 : 165-172, 2019
31)Zore T, et al : Transfer of embryos with segmental mosaicism is associated with a significant reduction in live-birth rate. Fertil Steril 111 : 69-76, 2019
32)Zhang Y, et al : The pregnancy outcome of mosaic embryo transfer : A prospective multicenter study and meta-analysis. Genes 11 : 1-17, 2020
33)Kahraman S, et al : The birth of a baby with mosaicism resulting from a known mosaic embryo transfer : a case report. Hum Reprod 35 : 727-733, 2020
34)Practice Committee and Genetic Counseling Professional Group(GCPG)of the American Society for Reproductive Medicine : Clinical management of mosaic results from preimplantation genetic testing for aneuploidy(PGT-A)of blastocysts : a committee opinion. Fertil Steril 114 : 246-254, 2020
35)Preimplantation genetic diagnosis international society : PGDIS position statement on chromosome mosaicism and preimplantation aneuploidy testing at the blastocyst stage. PGDIS Newsletter July 19, 2016
36)Cram DS, et al : PGDIS Position Statement on the Transfer of Mosaic Embryos 2019. Reprod Biomed Online 39 : e1-e4, 2019
37)Shamonki M, et al : Proof of concept : preimplantation genetic screening without embryo biopsy through analysis of cell-free DNA in spent embryo culture media. Fertil Steril 106 : 1312-1318, 2016
38)Xu J, et al : Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization. Proc Natl Acad Sci USA 113 : 11907-11912, 2016
39)Ho J, et al : Pushing the limits of detection : investigation of cell-free DNA for aneuploidy screening in embryos. Fertil Steril 110 : 467-475, 2018
40)Capalbo A, et al : Diagnostic efficacy of blastocoel fluid and spent media as sources of DNA for preimplantation genetic testing in standard clinical conditions. Fertil Steril 110 : 870-879, 2018
41)Kuznyetsov V, et al : Evaluation of a novel non-invasive preimplantation genetic screening approach. PLoS ONE 13 : 1-15, 2018
42)Vera-Rodriguez M, et al : Origin and composition of cell-free DNA in spent medium from human embryo culture during preimplantation development. Hum Reprod 33 : 745-756, 2018
43)Rubio C, et al : Embryonic cell-free DNA versus trophectoderm biopsy for aneuploidy testing : concordance rate and clinical implications. Fertil Steril 112 : 510-519, 2019
44)Yeung Q, et al : A prospective study of non-invasive preimplantation genetic testing for aneuploidies(NiPGT-A)using next-generation sequencing(NGS)on spent culture media(SCM). J Assist Reprod Genet 36 : 1609-1621, 2019
45)Huang L, et al : Noninvasive preimplantation genetic testing for aneuploidy in spent medium may be more reliable than trophectoderm biopsy. Proc Natl Acad Sci USA 116 : 14105-14112, 2019
46)Jiao J, et al : Minimally invasive preimplantation genetic testing using blastocyst culture medium. Hum Reprod 34 : 1369-1379, 2019
47)Gianaroli L, et al : Blastocentesis : A source of DNA for preimplantation genetic testing. Results from a pilot study. Fertil Steril 102 : 1692-1699, 2014
48)Tobler K, et al : Blastocoel fluid from differentiated blastocysts harbors embryonic genomic material capable of a whole-genome deoxyribonucleic acid amplification and comprehensive chromosome microarray analysis. Fertil Steril 104 : 418-425, 2015
49)Magli M, et al : Preimplantation genetic testing : Polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid? Fertil Steril 105 : 676-683, 2016
50)Sato T, et al : Preimplantation genetic testing for aneuploidy : a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure. Hum Reprod 34 : 2340-2348, 2019

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1294

印刷版ISSN:0386-9865

雑誌購入ページに移動
icon up

本サービスは医療関係者に向けた情報提供を目的としております。
一般の方に対する情報提供を目的としたものではない事をご了承ください。
また,本サービスのご利用にあたっては,利用規約およびプライバシーポリシーへの同意が必要です。

※本サービスを使わずにご契約中の電子商品をご利用したい場合はこちら