Literature DB >> 30402730

The effect of repeated biopsy on pre-implantation genetic testing for monogenic diseases (PGT-M) treatment outcome.

Shira Priner1,2, Gheona Altarescu3,4, Oshrat Schonberger5, Hananel Holzer5, Esther Rubinstein5, Nava Dekel5, Aharon Peretz5, Talia Eldar-Geva5,3.   

Abstract

PURPOSE: To study the outcome of repeated biopsy for pre-implantation genetic testing in case of failed genetic diagnosis in the first biopsy.
METHODS: The study group included 81 cycles where embryos underwent re-biopsy because there were no transferable embryos after the first biopsy: in 55 cycles, the first procedure was polar body biopsy (PBs) and the second cleavage-stage (BB); in 26 cycles, the first was BB and the second trophectoderm (BLAST) biopsy. The control group included 77 cycles where embryos underwent successful genetic diagnosis following the first biopsy, matched by maternal age, egg number, genetic inheritance type, and embryonic stage at the first biopsy. We measured genetic diagnosis rate, clinical pregnancy rates (PRs), live-birth rates (LBRs), gestational age, and birth weight.
RESULTS: For repeated biopsy, genetic diagnosis was received in 67/81 cycles (82.7%); at a higher rate in PB + BB than in BB + BLAST (49/55, 89.1% and 18/26, 69.2% respectively, p = 0.055). Transferable embryos were found in 47 and 68 cycles in the study and the control groups. PRs/ET were 20/47 (42.6%) and 36/68 (52.9%) (p = 0.27), 16/36 (44.4%) following PB + BB, and 4/11 (36.4%) following BB + BLAST (p = 0.74). LBRs/ET were 13/47 (27.7%) in study group, and 28/68 (41.2%) in the controls (p = 0.14), 10/36 (27.8%) following PB + BB group, and 3/11 (27.3%) following BB + BLAST (p > 0.99). Gestational age and birth weight were similar in all groups.
CONCLUSIONS: Re-biopsy of embryos when no genetic diagnosis could be reached following the first biopsy, achieved high rates of genetic diagnosis, pregnancies, and live births.

Entities:  

Keywords:  Blastocyst biopsy; Cleavage-stage biopsy; PGT-M; Polar body biopsy; Repeated embryo biopsy

Mesh:

Year:  2018        PMID: 30402730      PMCID: PMC6338588          DOI: 10.1007/s10815-018-1359-2

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN: 1058-0468            Impact factor:   3.412


  3 in total

1.  Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly.

Authors:  Lei Zhang; Zhiping Zhang; Xingyu Bi; Yong Mao; Yanbing Cheng; Pengfei Zhu; Suming Xu; Yaoqin Wang; Xiaoyu Zhan; Junmei Fan; Yuan Yuan; Huixia Bi; Xueqing Wu
Journal:  J Hum Genet       Date:  2020-02-13       Impact factor: 3.172

2.  A comprehensive and universal approach for embryo testing in patients with different genetic disorders.

Authors:  Shuo Zhang; Caixia Lei; Junping Wu; Min Xiao; Jing Zhou; Saijuan Zhu; Jing Fu; Daru Lu; Xiaoxi Sun; Congjian Xu
Journal:  Clin Transl Med       Date:  2021-07

3.  Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.

Authors:  Songchang Chen; Hongjun Fei; Junyun Zhang; Yiyao Chen; Hefeng Huang; Daru Lu; Chenming Xu
Journal:  Front Mol Biosci       Date:  2021-12-10
  3 in total

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