Literature DB >> 30232021

Status of preimplantation genetic testing and embryo selection.

Santiago Munné1.   

Abstract

At the recent 2018 PGDIS congress, a review of randomized controlled trials of preimplantation genetic testing for aneuploidies (PGT-A) showed improved ongoing pregnancy rates per transfer in experienced centres and in women aged 35 years and older. Young women produce 40% abnormal embryos (20-60% range), but not all centres see a selection advantage; this indicates the need for more emphasis in improving biopsy and case management. Some chromosome abnormalities are iatrogenic; PGT-A could, therefore, be used as assisted reproductive technology (ART) quality control. Great improvements in non-invasive PGT by testing spent media have been reported, ranging from 80-95% concordance with trophectoderm biopsy, probably precluding the need for biopsy soon. Mosaicism was widely discussed, with PGDIS agreeing to update their guidelines, but continuing to recommend prioritizing euploid, followed by mosaic embryos. Techniques to allow simultaneous single sample analysis of aneuploidy and inherited mutations are improving, but this does not extend to de-novo mutations. Convincing data were presented on the efficacy of using endometrial receptivity tests to improve ART outcomes adjuvant or independently of PGT-A. Imprinting, CRISPR and cloning were also discussed, with a concluding presentation on the first extensive data (aneuploidy and morphology) on in-vivo conceived embryos.
Copyright © 2018 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  De novo mutation; In vivo conception; Mosaicism; PGD; PGS

Mesh:

Year:  2018        PMID: 30232021     DOI: 10.1016/j.rbmo.2018.08.001

Source DB:  PubMed          Journal:  Reprod Biomed Online        ISSN: 1472-6483            Impact factor:   3.828


  18 in total

1.  Comprehensive analysis of the associations between previous pregnancy failures and blastocyst aneuploidy as well as pregnancy outcomes after PGT-A.

Authors:  Tianxiang Ni; Qianqian Wu; Yueting Zhu; Wenjie Jiang; Qian Zhang; Yan Li; Junhao Yan; Zi-Jiang Chen
Journal:  J Assist Reprod Genet       Date:  2020-02-26       Impact factor: 3.412

Review 2.  The mechanisms and clinical application of mosaicism in preimplantation embryos.

Authors:  Xinyuan Li; Yan Hao; Nagwa Elshewy; Xiaoqian Zhu; Zhiguo Zhang; Ping Zhou
Journal:  J Assist Reprod Genet       Date:  2019-12-14       Impact factor: 3.412

3.  New perspectives with the use of noninvasive chromosome screening (NICS) in ART.

Authors:  José G Franco
Journal:  JBRA Assist Reprod       Date:  2019-10-14

4.  Comment on the recent PGDIS Position Statement on the Transfer of Mosaic Embryos 2021.

Authors:  Maximilian Murtinger; Maximilian Schuff; Barbara Wirleitner; Susanna Miglar; Dietmar Spitzer
Journal:  J Assist Reprod Genet       Date:  2022-09-23       Impact factor: 3.357

5.  Evaluation of the endometrial receptivity assay and the preimplantation genetic test for aneuploidy in overcoming recurrent implantation failure.

Authors:  Mauro Cozzolino; Patricia Diaz-Gimeno; Antonio Pellicer; Nicolas Garrido
Journal:  J Assist Reprod Genet       Date:  2020-09-24       Impact factor: 3.412

6.  A mathematical model for predicting the number of transferable blastocysts in next-generation sequencing-based preimplantation genetic testing.

Authors:  Yunni Cai; Min Ding; YuTing Zhang; Yanxin Sun; Fei Lin; Zhenyu Diao; Jianjun Zhou
Journal:  Arch Gynecol Obstet       Date:  2021-07-03       Impact factor: 2.344

Review 7.  The evolving role of genetic tests in reproductive medicine.

Authors:  Federica Cariati; Valeria D'Argenio; Rossella Tomaiuolo
Journal:  J Transl Med       Date:  2019-08-14       Impact factor: 5.531

8.  Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening.

Authors:  Nicholas M Murphy; Tanya S Samarasekera; Lisa Macaskill; Jayne Mullen; Luk J F Rombauts
Journal:  Sci Rep       Date:  2020-03-02       Impact factor: 4.379

9.  Minimally Invasive Cell-Free Human Embryo Aneuploidy Testing (miPGT-A) Utilizing Combined Spent Embryo Culture Medium and Blastocoel Fluid -Towards Development of a Clinical Assay.

Authors:  Valeriy Kuznyetsov; Svetlana Madjunkova; Rina Abramov; Ran Antes; Zenon Ibarrientos; Gelareh Motamedi; Afsaneh Zaman; Iryna Kuznyetsova; Clifford L Librach
Journal:  Sci Rep       Date:  2020-04-29       Impact factor: 4.379

10.  Chromosomal analyses of human giant diploid oocytes by next-generation sequencing.

Authors:  Hiroomi Kawano; Naoki Yamashita; Junya Ito; Naomi Kashiwazaki
Journal:  Reprod Med Biol       Date:  2021-03-18
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