4.6 Review

PGDIS position statement on the transfer of mosaic embryos 2021

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Article Obstetrics & Gynecology

A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy assay and impact of biopsy

Ashley W. Tiegs et al.

Summary: The study aimed to determine the predictive value of PGT-A testing in forecasting the failure of successful delivery, finding high accuracy in predicting delivery failure with aneuploid results. Additionally, trophectoderm biopsy did not have a detectable adverse impact on sustained implantation.

FERTILITY AND STERILITY (2021)

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Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data

Diego Marin et al.

Summary: Preimplantation genetic testing for aneuploidy (PGT-A) has advanced in reducing miscarriage risk, increasing success rates of IVF, and shortening time to pregnancy. However, PGT-A methods utilizing NGS show significantly lower concordance, indicating caution is needed when considering new iterations of PGT-A.

PRENATAL DIAGNOSIS (2021)

Article Genetics & Heredity

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

Antonio Capalbo et al.

Summary: Research has shown that low-medium mosaicism in the trophectoderm mostly arises after TE and ICM differentiation, and such embryos have equivalent developmental potential as fully euploid ones.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Uniparental disomy in a population of 32,067 clinical exome trios

Julie Scuffins et al.

Summary: The study analyzed 32,067 ES trios to identify whole-chromosome and segmental UPD events, with some associated with imprinting disorders and positive test results through homozygous sequence variants.

GENETICS IN MEDICINE (2021)

Article Obstetrics & Gynecology

Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use

Manuel Viotti et al.

Summary: This study investigated how the attributes of mosaicism identified during preimplantation genetic testing for aneuploidy are related to clinical outcomes, and formulated a ranking system for mosaic embryos. The results showed that euploid embryos had significantly better outcomes compared to mosaic embryos, with outcomes influenced by the level and type of mosaicism. Combining mosaic level, type, and embryo morphology revealed a ranking of subcategories regarding the likelihood of positive outcome.

FERTILITY AND STERILITY (2021)

Article Genetics & Heredity

Trophectoderm biopsy protocols may impact the rate of mosaic blastocysts in cycles with pre-implantation genetic testing for aneuploidy

Shun Xiong et al.

Summary: Different biopsy protocols may impact the rate of mosaic blastocysts, with ZP opening combined with TE biopsy potentially increasing the incidence of mosaic blastocysts.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021)

Article Obstetrics & Gynecology

Complex mosaic blastocysts after preimplantation genetic testing: prevalence and outcomes after re-biopsy and re-vitrification

Shuang Zhou et al.

Summary: Re-biopsy may rescue blastocysts with development potential for transfer and improve the cumulative pregnancy rate per stimulation cycle in patients containing complex mosaic blastocysts.

REPRODUCTIVE BIOMEDICINE ONLINE (2021)

Article Obstetrics & Gynecology

The mosaic'' embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy

Nathan R. Treff et al.

Summary: Preimplantation genetic testing for aneuploidy (PGT-A) remains a controversial topic in reproductive medicine, with ongoing misconceptions and misinterpretations surrounding genetic analysis and prediction of mosaicism in preimplantation embryos.

FERTILITY AND STERILITY (2021)

Article Genetics & Heredity

IVF embryo choices and pregnancy outcomes

Li Wang et al.

Summary: The study revealed that routine morphology-based embryo selection resulted in a high euploid selection rate, but a significant number of aneuploid embryos were still inadvertently selected for transfer, leading to high failure rates in pregnancy initiation and progression.

PRENATAL DIAGNOSIS (2021)

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Clinical Outcomes of Single Mosaic Embryo Transfer: High-Level or Low-Level Mosaic Embryo, Does It Matter?

Pin-Yao Lin et al.

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Screening for Fetal Chromosomal Abnormalities ACOG Practice Bulletin Summary, Number 226

Nancy C. Rose et al.

OBSTETRICS AND GYNECOLOGY (2020)

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Rates of live birth after mosaic embryo transfer compared with euploid embryo transfer

Lei Zhang et al.

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Meeting Abstract Obstetrics & Gynecology

MOSAIC EMBRYO DIAGNOSIS CORRELATED WITH ABNORMAL 15Q DUPLICATION SYNDROME IN OFFSPRING.

Emily L. Mounts et al.

FERTILITY AND STERILITY (2019)

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Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst

Andrea R. Victor et al.

HUMAN REPRODUCTION (2019)

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The cytogenetic constitution of human blastocysts: insights from comprehensive chromosome screening strategies

Elpida Fragouli et al.

HUMAN REPRODUCTION UPDATE (2019)

Article Obstetrics & Gynecology

Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments

Francesca Spinella et al.

FERTILITY AND STERILITY (2018)

Article Genetics & Heredity

Rare autosomal trisomies: Important and not so rare

Fergus Scott et al.

PRENATAL DIAGNOSIS (2018)

Article Obstetrics & Gynecology

An evidence-based scoring system for prioritizing mosaic aneuploid embryos following preimplantation genetic screening

Francesca Romana Grati et al.

REPRODUCTIVE BIOMEDICINE ONLINE (2018)

Review Genetics & Heredity

Discordant non-invasive prenatal testing (NIPT) - a systematic review

Tanja Schlaikjaer Hartwig et al.

PRENATAL DIAGNOSIS (2017)

Article Andrology

Implantation potential of mosaic embryos

Belen Lledo et al.

SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE (2017)

Review Obstetrics & Gynecology

Mosaicism: survival of the fittest'' versus no embryo left behind''

Santiago Munne et al.

FERTILITY AND STERILITY (2016)

Letter Medicine, General & Internal

Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts

Ermanno Greco et al.

NEW ENGLAND JOURNAL OF MEDICINE (2015)

Article Obstetrics & Gynecology

Comprehensive molecular cytogenetic analysis of the human blastocyst stage

E. Fragouli et al.

HUMAN REPRODUCTION (2008)