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Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.

ABSTRACT: Chromosome imbalance (aneuploidy) is the major cause of pregnancy loss and congenital disorders in humans. Analyses of small biopsies from human embryos suggest that aneuploidy commonly originates during early divisions, resulting in mosaicism. However, the developmental potential of mosaic embryos remains unclear. We followed the distribution of aneuploid chromosomes across 73 unselected preimplantation embryos and 365 biopsies, sampled from four multifocal trophectoderm (TE) samples and the inner cell mass (ICM). When mosaicism impacted fewer than 50% of cells in one TE biopsy (low-medium mosaicism), only 1% of aneuploidies affected other portions of the embryo. A double-blinded prospective non-selection trial (NCT03673592) showed equivalent live-birth rates and miscarriage rates across 484 euploid, 282 low-grade mosaic, and 131 medium-grade mosaic embryos. No instances of mosaicism or uniparental disomy were detected in the ensuing pregnancies or newborns, and obstetrical and neonatal outcomes were similar between the study groups. Thus, low-medium mosaicism in the trophectoderm mostly arises after TE and ICM differentiation, and such embryos have equivalent developmental potential as fully euploid ones.

SUBMITTER: Capalbo A

PROVIDER: S-EPMC8715143 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.

Capalbo Antonio A Poli Maurizio M Rienzi Laura L Girardi Laura L Patassini Cristina C Fabiani Marco M Cimadomo Danilo D Benini Francesca F Farcomeni Alessio A Cuzzi Juliana J Rubio Carmen C Albani Elena E Sacchi Laura L Vaiarelli Alberto A Figliuzzi Matteo M Findikli Necati N Coban Onder O Boynukalin Fazilet K FK Vogel Ivan I Hoffmann Eva E Livi Claudia C Levi-Setti Paolo E PE Ubaldi Filippo M FM Simón Carlos C

American journal of human genetics 20211118 12

Chromosome imbalance (aneuploidy) is the major cause of pregnancy loss and congenital disorders in humans. Analyses of small biopsies from human embryos suggest that aneuploidy commonly originates during early divisions, resulting in mosaicism. However, the developmental potential of mosaic embryos remains unclear. We followed the distribution of aneuploid chromosomes across 73 unselected preimplantation embryos and 365 biopsies, sampled from four multifocal trophectoderm (TE) samples and the in ...[more]

PMID: 34798051

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Project description:Study questionWhat are patients' reasoning and decisional needs in relation to the transfer of mosaic embryos following preimplantation genetic testing (PGT)?Summary answerThis study identified four themes, which were patients' reasoning behind decision-making, their decisional needs, the influence of the mosaic embryos on the decision-making and the role of health professionals.What is known alreadyTo date, no study has investigated the reasoning of patients behind their decision-making and the influence of mosaic embryos.Study design size durationThis is a cross-sectional study using a qualitative approach. Twenty participants were interviewed, and recruitment was ceased when no new information was identified in the data analysis. It ensured a sufficient sample size for a qualitative study.Participants/materials setting methodsParticipants were females with mosaic embryos. Semi-structured in-depth interviews were conducted via telephone.Main results and the role of chanceFour themes were identified: reasoning behind decision-making, decisional needs, influence of mosaic embryos on decision-making and the role of health professionals. Potential risks of transferring mosaic embryos and prioritization of euploid embryos were the main reasons for not transferring mosaic embryos. A lack of alternatives, perceived benefits and risk tolerance were main reasons for transferring mosaic embryos. Patients reported that information on mosaic embryos, amniocentesis and termination was important to support their decision-making. Unmet needs relating to healthcare services and social support were reported. In addition, having mosaic embryos affected the patients' emotional and behavioural responses, discussions about prenatal testing, attitudes to termination and further IVF cycles and attitudes towards PGT. Health professionals were found to influence the patients' decision-making.Limitations reasons for cautionParticipants were recruited through one clinic, which may limit the transferability of results. Also, patients' experiences in relation to financial aspects of PGT may not be relevant to other jurisdictions due to different healthcare policies.Wider implications of the findingsThe results may inform how clinicians provide healthcare services based on factors influencing patients' decision-making. Health professionals should be aware of the influence their attitudes can have on patients' decision-making and should present information accordingly. Also, providing all relevant information may help to facilitate informed decision-making. Provision of psychological support from professionals and support groups is also critical during the process of testing and transfer. Patients have educational needs regarding mosaic embryos, and educational resources including decision aids in plain language are needed.Study funding/competing interestsB.M. was funded through a Senior Research Fellowship Level B (ID 1078523) from the National Health and Medical Research Council of Australia. L.C. was supported by a University International Postgraduate Award under the Australian Government Research Training Program (RTP) scholarship. No other funding was received for this study. The authors report no competing interests.Trial registration numberN/A.

Dataset Information

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.

Publications

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.

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