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Assessment of mitochondrial DNA viability ratio in day-4 biopsied embryos as an add-in to select euploid embryos for single embryo transfer

Published online by Cambridge University Press:  23 September 2022

Ahmad Metwalley Open the ORCID record for Ahmad Metwalley [Opens in a new window] ,
Ali Hellani ,
Azza A. Abdelrazek ,
Ahmed El-Damen ,
Ahmed Al Dawood ,
Nabeel Brasha ,
Sandro C. Esteves Open the ORCID record for Sandro C. Esteves [Opens in a new window] ,
Manal El Hamshary  and
Omaima Khamiss
Ahmad Metwalley*
Affiliation:
Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Egypt King Abdelaziz Medical City, Assisted Reproductive Unit, Jeddah, Saudi Arabia
Ali Hellani
Affiliation:
Viafet Genomics Centre, Sydney, Australia
Azza A. Abdelrazek
Affiliation:
Department of Obstetrics and Gynaecology, Ain Shames University, Egypt
Ahmed El-Damen
Affiliation:
Division of Embryology and Comparative Anatomy, Faculty of Science, Cairo University, Egypt
Ahmed Al Dawood
Affiliation:
Viafet Genomics Centre, Sydney, Australia
Nabeel Brasha
Affiliation:
King Abdelaziz Medical City, Assisted Reproductive Unit, Jeddah, Saudi Arabia
Sandro C. Esteves
Affiliation:
ANDROFERT, Andrology and Human Reproduction Clinic, Referral Centre for Male Reproduction, Campinas, SP, Brazil
Manal El Hamshary
Affiliation:
Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Egypt
Omaima Khamiss
Affiliation:
Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Egypt
*
Author for correspondence: Ahmad Metwalley. Genetic Engineering and Biotechnology Research Institute, University of Sadat City, Sadat City, Egypt. Tel: +96 6567567556. E-mail: [email protected].
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Summary

The aim of this study was to assess mitochondrial DNA analysis as a predictor of the pregnancy potential of biopsied preimplantation embryos. The study included 78 blastomeres biopsied from day 4 cleavage stage euploid embryos. The embryo karyotype was confirmed by 24-chromosome preimplantation genetic testing for aneuploidies using the Illumina Next-Generation Sequencing (NGS) system. Mitochondria viability ratios (mtV) were determined from BAM files subjected to the web-based genome-analysis tool Galaxy. From this cohort of patients, 30.4% of patients (n = 34) failed to establish pregnancy. The mean mtV ratio [mean = 1.51 ± 1.25–1.77 (95% CI)] for this group was significantly (P < 0.01) lower compared with the embryo population that resulted in established pregnancies [mean = 2.5 ± 1.82–2.68 (95% CI)]. mtV multiple of mean (MoM) values were similarly significantly (P < 0.01) lower in blastocysts failing to establish pregnancy. At a 0.5 MoM cut-off, the sensitivity of mtV quantitation was 35.3% and specificity was 78.2%. The positive predictive value for an mtV value > 0.5 MoM was 41.4%. This study demonstrates the clinical utility of preimplantation quantification of viable mitochondrial DNA in biopsied blastomeres as a prognosticator of pregnancy potential.

Keywords

Day 4 embryosICSI cumulasemtDNAmtV score/mtV MoMMitochondriaPGT-A
Type
Research Article
Information
Zygote , Volume 30 , Issue 6 , December 2022 , pp. 790 - 796
Copyright
© The Author(s), 2022. Published by Cambridge University Press

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