PGT for structural chromosomal rearrangements in 300 couples reveals specific risk factors but an interchromosomal effect is unlikely.

Autor: Ogur C; Yildiz Technical University, Department of Bioengineering, Istanbul, Turkey; Igenomix Avrupa Laboratories, Istanbul, Turkey. Electronic address: cagribeyazyurek@gmail.com., Kahraman S; Istanbul Memorial Hospital, ART and Reproductive Genetics Center, Istanbul, Turkey., Griffin DK; School of Biosciences, Centre for Interdisciplinary Studies of Reproduction, University of Kent, Canterbury CT2 7NJ, UK., Cinar Yapan C; Istanbul Memorial Hospital, ART and Reproductive Genetics Center, Istanbul, Turkey., Tufekci MA; Istanbul Memorial Hospital, ART and Reproductive Genetics Center, Istanbul, Turkey., Cetinkaya M; Istanbul Memorial Hospital, ART and Reproductive Genetics Center, Istanbul, Turkey., Temel SG; Uludag University, Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey. Electronic address: sehimegtemel@hotmail.com., Yilmaz A; Yildiz Technical University, Department of Bioengineering, Istanbul, Turkey. Electronic address: alperyilmaz@gmail.com.
Jazyk: angličtina
Zdroj: Reproductive biomedicine online [Reprod Biomed Online] 2023 Apr; Vol. 46 (4), pp. 713-727. Date of Electronic Publication: 2022 Jul 31.
DOI: 10.1016/j.rbmo.2022.07.016
Abstrakt: Research Question: What factors affect the proportion of chromosomally balanced embryos in structural rearrangement carriers? Is there any evidence for an interchromosomal effect (ICE)?
Design: Preimplantation genetic testing outcomes of 300 couples (198 reciprocal, 60 Robertsonian, 31 inversion and 11 complex structural rearrangement carriers) were assessed retrospectively. Blastocysts were analysed either by array-comparative genomic hybridization or next-generation sequencing techniques. ICE was investigated using a matched control group and sophisticated statistical measurement of effect size (φ).
Results: 300 couples underwent 443 cycles; 1835 embryos were analysed and 23.8% were diagnosed as both normal/balanced and euploid. The overall cumulative clinical pregnancy and live birth rates were 69.5% and 55.8%, respectively. Complex translocations and female age (≥35) were found to be risk factors associated with lower chance of having a transferable embryo (P < 0.001). Based on analysis of 5237 embryos, the cumulative de-novo aneuploidy rate was lower in carriers compared to controls (45.6% versus 53.4%, P < 0.001) but this was a 'negligible' association (φ < 0.1). A further assessment of 117,033 chromosomal pairs revealed a higher individual chromosome error rate in embryos of carriers compared to controls (5.3% versus 4.9%), which was also a 'negligible' association (φ < 0.1), despite a P-value of 0.007.
Conclusions: These findings suggest that rearrangement type, female age and sex of the carrier have significant impacts on the proportion of transferable embryos. Careful examination of structural rearrangement carriers and controls indicated little or no evidence for an ICE. This study helps to provide a statistical model for investigating ICE and an improved personalized reproductive genetics assessment for structural rearrangement carriers.
(Copyright © 2022 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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