Evidence map›Paper›PMID 34798051›Full record

ArticleAmerican journal of human genetics2021

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

Antonio Capalbo, Maurizio Poli, Laura Rienzi, Laura Girardi, Cristina Patassini, Marco Fabiani, Danilo Cimadomo, Francesca Benini, Alessio Farcomeni, Juliana Cuzzi and 14 more

2 registry-linked trialsAbstract readMulticenter Study
In one paragraph

Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 123 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
123citing papers in PubMed, 7 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03673592 completednot on this map

Prospective Non-selection Study to Investigate the Clinical Predictive Value of Chromosome Copy Number Values Consistent With the Presence of Mosaicism Within the Trophectoderm Biopsy (NON-SELECTION MOSAICISM)

TypeobservationalSponsorIgenomixRan2018 to 2020Enrolled783ConditionsAneuploidy, Chromosome AbnormalityArmsPGT-A
NCT07533630 not yet recruitingnot on this mapstarted 2026, after this paper: background citation

Efficacy of PGT-A Upgrade in Preimplantation Genetic Testing of Embryos: An International Multicenter Prospective Clinical Study

TypeobservationalSponsorReproductive & Genetic Hospital of CITIC-XiangyaRan2026 to 2028Enrolled1,700ConditionsInfertility Assisted Reproductive TechnologyArmsPGT-A upgrade
3 · Its place in the literature

Who cites it

123 citing papers in PubMed, 7 syntheses or guidelines pooled it.

  1. Pooled it
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  4. Guideline
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  11. Article
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  15. Morphogen Gradients as Drivers of Mosaicism During Early Human Development.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026
    Review
  16. Article
  17. Article
  18. Modeling Post-Implantation Mammalian Embryogenesis Using AdvancedInternational journal of molecular sciences · 2026
    Review
  19. Article
  20. Review

63 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Antonio CapalboIgenomix, Reproductive Genetics, Marostica 36063, Italy. Electronic address: antonio.capalbo@igenomix.com.
Maurizio PoliIgenomix, Reproductive Genetics, Marostica 36063, Italy.
Laura RienziClinica Valle Giulia, GeneraLife IVF, Rome 00197, Italy.
Laura GirardiIgenomix, Reproductive Genetics, Marostica 36063, Italy.
Cristina PatassiniIgenomix, Reproductive Genetics, Marostica 36063, Italy.
Marco FabianiIgenomix, Reproductive Genetics, Marostica 36063, Italy.
Danilo CimadomoClinica Valle Giulia, GeneraLife IVF, Rome 00197, Italy.
Francesca BeniniDEMETRA, GeneraLife IVF, Florence 50141, Italy.
Alessio FarcomeniDepartment of Economics and Finance, University of Rome "Tor Vergata," Rome 00133, Italy.
Juliana CuzziIgenomix US & Canada, Miami, FL 33126, USA.
Carmen RubioIgenomix, Valencia 46980, Spain; Igenomix Foundation, Reproductive Genetics, Valencia 46980, Spain.
Elena AlbaniIstituto di Ricovero e Cura a Carattere Scientifico, Humanitas Research Hospital, Division of Gynecology and Reproductive Medicine, Fertility Center, Rozzano (Milan) 20089, Italy.
Laura SacchiIstituto di Ricovero e Cura a Carattere Scientifico, Humanitas Research Hospital, Division of Gynecology and Reproductive Medicine, Fertility Center, Rozzano (Milan) 20089, Italy.
Alberto VaiarelliClinica Valle Giulia, GeneraLife IVF, Rome 00197, Italy.
Matteo FigliuzziIgenomix, Reproductive Genetics, Marostica 36063, Italy.
Necati FindikliBahceci Fulya IVF Centre, Embryology Laboratory, Istanbul 34394, Turkey; Department of Biomedical Engineering, Beykent University, Istanbul 34398, Turkey.
Onder CobanBritish Cyprus IVF Hospital, Nicosia 2681, Cyprus.
Fazilet K BoynukalinBahceci Fulya IVF Centre, Infertility Clinic, Istanbul 34394, Turkey.
Ivan VogelDanish National Research Foundation Center for Chromosome Stability, Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark.
Eva HoffmannDanish National Research Foundation Center for Chromosome Stability, Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark.
Claudia LiviDEMETRA, GeneraLife IVF, Florence 50141, Italy.
Paolo E Levi-SettiIstituto di Ricovero e Cura a Carattere Scientifico, Humanitas Research Hospital, Division of Gynecology and Reproductive Medicine, Fertility Center, Rozzano (Milan) 20089, Italy.
Filippo M UbaldiClinica Valle Giulia, GeneraLife IVF, Rome 00197, Italy.
Carlos SimónIgenomix, Valencia 46980, Spain; Igenomix Foundation, Reproductive Genetics, Valencia 46980, Spain; Valencia University and INCLIVA, Department of Obstetrics and Gynecology, Valencia, 46010, Spain; School of Medicine, Department of Obstetrics and Gynecology, Harvard University, Cambridge, MA 02115, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

AneuploidyBlastocystFertilization in VitroGenetic TestingDouble-Blind MethodEmbryonic DevelopmentEmbryo TransferFemaleHumansIncidenceInfant, NewbornMaleMosaicismPregnancyPregnancy OutcomeProspective Studies

Identifiers

PMID34798051
PMCPMC8715143

What OpenQuestion holds

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.