Distribution patterns of segmental aneuploidies in human blastocysts identified by next-generation sequencing

Fertility and Sterility
Maria Vera-RodriguezC Rubio

Abstract

To evaluate the ability of next-generation sequencing (NGS) to detect pure and mosaic segmental aneuploidies in trophectoderm biopsies and to identify distribution patterns in whole blastocysts. Validation study. Reference laboratory. Seventy couples with known karyotypes who had undergone preimplantation genetic screening with diagnoses at the blastocyst stage using array comparative genomic hybridization (aCGH). None. Concordance rates for segmental and whole-chromosome aneuploidies determined between aCGH and NGS, and estimates of mosaicism levels of segmental aneuploidies in fixed blastocysts. We used NGS with amplified DNA from trophectoderm biopsies in which segmental aneuploidies had been previously detected by array comparative genomic hybridization (aCGH). Single-cell fluorescent in situ hybridization (FISH) was then used as an independent form of analysis. The concordance rate between NGS and aCGH was 124 (98.4%) of 126 for the detection of segmental aneuploidies, and 48 (96.0%) of 50 for whole-chromosome aneuploidies. The overall concordance rate was 99.8% (2,276 of 2,280 chromosomes assessed). After FISH analyses with 41.4 ± 24.3 cells per blastocyst, 26 (92.9%) of 28 segmentals detected by aCGH and NGS were confirm...Continue Reading

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Citations

Apr 11, 2017·Systems Biology in Reproductive Medicine·Xavier VendrellMiguel Ruiz-Jorro
Nov 13, 2018·Human Reproduction·Andrea R VictorManuel Viotti
Oct 14, 2017·F1000Research·Robert CasperChaula Mehta
Feb 6, 2019·Biology of Reproduction·Carmen RubioCarlos Simón
Nov 12, 2019·Human Reproduction·Barbara LawrenzHuman M Fatemi
Apr 4, 2020·Human Reproduction·M C MagliL Gianaroli
Sep 19, 2019·Reproductive Biology and Endocrinology : RB&E·María-José EscribàVanessa Peinado
Feb 14, 2019·Journal of Assisted Reproduction and Genetics·C E BeyerJ Mullen
Feb 22, 2017·Clinical and Translational Medicine·Jian Wang, Yuanlin Song
May 13, 2017·Annual Review of Genomics and Human Genetics·Nathan R Treff, Rebekah S Zimmerman
Jun 4, 2017·Journal of Assisted Reproduction and Genetics·David GoodrichNathan R Treff
Nov 7, 2019·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Carlos Hernandez-NietoBenjamin Sandler
Dec 16, 2019·Journal of Assisted Reproduction and Genetics·Xinyuan LiPing Zhou
Jan 4, 2017·Human Reproduction·Karen D SermonFrancesco Fiorentino
Feb 6, 2017·Human Reproduction·Eftychia DimitriadouJoris Robert Vermeesch
Jun 25, 2020·International Journal of Molecular Sciences·Ermanno GrecoPaolo Barillari
Jan 28, 2021·Seminars in Cell & Developmental Biology·Vallari ShuklaEva R Hoffmann
Mar 7, 2021·Diagnostics·Osamu ShimokawaRitsuko Kimata Pooh
Dec 6, 2017·Fertility and Sterility·Carlos Hernandez-NietoBenjamin Sandler

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