On the reproductive capabilities of aneuploid human preimplantation embryos

Article Obstetrics & Gynecology

The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy

Julia Kim et al.

Summary: This study aims to determine the frequency at which the results of a single trophectoderm biopsy tested by PGTseq reflect the biology of the rest of the embryo.

FERTILITY AND STERILITY (2022)

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Article Obstetrics & Gynecology

IVF outcomes of embryos with abnormal PGT-A biopsy previously refused transfer: a prospective cohort study

D. H. Barad et al.

Summary: The study found that many patients choose to transfer embryos diagnosed as abnormal to a new institution for transfer, recognizing that these embryos can still offer a chance of pregnancy and live birth. While not all abnormal embryos were successfully transferred, some patients were able to achieve live births through this method.

HUMAN REPRODUCTION (2022)

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Letter Medicine, General & Internal

Trends and Outcomes for Preimplantation Genetic Testing in the United States, 2014-2018

Heather S. Hipp et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2022)

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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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Review Genetics & Heredity

Copy number analysis of meiotic and postzygotic mitotic aneuploidies in trophectoderm cells biopsied at the blastocyst stage and arrested embryos

Alan H. Handyside et al.

Summary: Preimplantation genetic testing for aneuploidy (PGT-A) using copy number analysis is commonly used to select euploid embryos. This study utilized single nucleotide polymorphism genotyping to identify meiotic aneuploidies and compared copy number changes for meiotic and presumed mitotic aneuploidies. The research found that there were more mitotic copy number changes detected than meiotic origin changes, and some mitotic aneuploidies may be identified as full aneuploidies.

PRENATAL DIAGNOSIS (2021)

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Review Genetics & Heredity

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)

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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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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)

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Article Medicine, General & Internal

Live Birth with or without Preimplantation Genetic Testing for Aneuploidy

Junhao Yan et al.

Summary: In this randomized, controlled trial comparing PGT-A with conventional IVF in women with three or more good-quality blastocysts, it was found that the cumulative live-birth rate with conventional IVF was noninferior to that with PGT-A.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Article Multidisciplinary Sciences

Inherent mosaicism and extensive mutation of human placentas

Tim H. H. Coorens et al.

Summary: Placentas can exhibit chromosomal abnormalities different from the fetus, possibly due to genetic segregation. Research shows that placental cells display genetic isolation and extensive mutagenesis, suggesting that mosaicism is a typical feature of placental development.

NATURE (2021)

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Review Genetics & Heredity

Uniparental disomy: Origin, frequency, and clinical significance

Peter Benn

Summary: UPD is defined as two copies of a whole chromosome derived from the same parent. The most common type is maternal heterodisomy. UPD provides insight into the history of early chromosome segregation errors.

PRENATAL DIAGNOSIS (2021)

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Review Obstetrics & Gynecology

Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature

Geerke M. Eggenhuizen et al.

Summary: The review evaluated the association between confined placental mosaicism (CPM) and prenatal growth and adverse pregnancy outcomes. Evidence showed that CPM was significantly associated with low birth weight, fetal growth restriction (FGR), and a high rate of preterm birth and structural fetal anomalies. Higher levels of mosaicism in chorionic villus sampling and the presence of uniparental disomy were also linked to adverse pregnancy outcomes. Monitoring fetal growth, examining for anomalies, and raising awareness of potential premature birth are advised for clinicians when CPM is detected.

HUMAN REPRODUCTION UPDATE (2021)

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Article Cell Biology

Depletion of aneuploid cells in human embryos and gastruloids

Min Yang et al.

Summary: The research provides evidence that embryos containing aneuploid cells are still suitable for in vitro fertilization transfer. It was found that healthy births can result from aneuploid embryos, challenging the belief that aneuploid embryos should be withheld from transfer. Additionally, the presence of euploid cells can help rescue embryonic tissues in mosaic embryos.

NATURE CELL BIOLOGY (2021)

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Review Genetics & Heredity

Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis

Brynn Levy et al.

Summary: The clinical effects of chromosomal mosaicism are directly linked to the type of imbalance, timing of initial event, distribution of abnormal cells, and ratio of normal/abnormal cells. Genetic counseling is crucial in educating patients about the risks of having a liveborn with a chromosome abnormality.

PRENATAL DIAGNOSIS (2021)

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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)

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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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Article Reproductive Biology

Predictive value of the number of frozen blastocysts in live birth rates of the transferred fresh embryos

Jianyuan Song et al.

Summary: The study found that in patients with optimal ovarian response who retrieved >= 10 oocytes, undergoing fresh embryo transfer followed by frozen blastocysts is a strong indicator of pregnancy achievement. However, the number of frozen blastocysts (if not = 0) has limited value in predicting live birth rates.

JOURNAL OF OVARIAN RESEARCH (2021)

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Article Obstetrics & Gynecology

Hidden in plain sight: the overstated benefits and underestimated losses of potential implantations associated with advertised PGT-A success rates

Richard J. Paulson

HUMAN REPRODUCTION (2020)

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Article Genetics & Heredity

The reproducibility of trophectoderm biopsies in euploid, aneuploid, and mosaic embryos using independently verified next-generation sequencing (NGS): a pilot study

Nidhee M. Sachdev et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2020)

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Article Genetics & Heredity

Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos

Laura Girardi et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

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Article Multidisciplinary Sciences

Autophagy-mediated apoptosis eliminates aneuploid cells in a mouse model of chromosome mosaicism

Shruti Singla et al.

NATURE COMMUNICATIONS (2020)

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Article Developmental Biology

Concordance of various chromosomal errors among different parts of the embryo and the value of re-biopsy in embryos with segmental aneuploidies

Rostislav Navratil et al.

MOLECULAR HUMAN REPRODUCTION (2020)

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Article Genetics & Heredity

When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy

Shelby A. Neal et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2019)

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Article Multidisciplinary Sciences

Chromosome errors in human eggs shape natural fertility over reproductive life span

Jennifer R. Gruhn et al.

SCIENCE (2019)

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Article Genetics & Heredity

Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

Priyanka Nakka et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Article Biochemistry & Molecular Biology

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

Masoud Zamani Esteki et al.

NATURE MEDICINE (2019)

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Article Obstetrics & Gynecology

Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst

Andrea R. Victor et al.

HUMAN REPRODUCTION (2019)

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Article Obstetrics & Gynecology

Inconclusive chromosomal assessment after blastocyst biopsy: prevalence, causative factors and outcomes after re-biopsy and re-vitrification. Amulticenter experience

Danilo Cimadomo et al.

HUMAN REPRODUCTION (2018)

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Article Obstetrics & Gynecology

Transferring embryos with genetic anomalies detected in preimplantation testing: an Ethics Committee Opinion

FERTILITY AND STERILITY (2017)

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Article Obstetrics & Gynecology

Human female meiosis revised: new insights into the mechanisms of chromosome segregation and aneuploidies from advanced genomics and time-lapse imaging

Antonio Capalbo et al.

HUMAN REPRODUCTION UPDATE (2017)

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Article Genetics & Heredity

A randomized and blinded comparison of qPCR and NGS-based detection of aneuploidy in a cell line mixture model of blastocyst biopsy mosaicism

David Goodrich et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2016)

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Article Multidisciplinary Sciences

Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential

Helen Bolton et al.

NATURE COMMUNICATIONS (2016)

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Article Genetics & Heredity

Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates

Christian S. Ottolini et al.

NATURE GENETICS (2015)

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Article Obstetrics & Gynecology

Uniparental disomy in the human blastocyst is exceedingly rare

Ndeye-Aicha Gueye et al.

FERTILITY AND STERILITY (2014)

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Article Obstetrics & Gynecology

Blastocysts can be rebiopsied for preimplantation genetic diagnosis and screening

Shuoping Zhang et al.

FERTILITY AND STERILITY (2014)

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Article Genetics & Heredity

Polar body based aneuploidy screening is poorly predictive of embryo ploidy and reproductive potential

C. N. Salvaggio et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2014)

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Article Obstetrics & Gynecology

Genomic Imbalance in Products of Conception Single-Nucleotide Polymorphism Chromosomal Microarray Analysis

Brynn Levy et al.

OBSTETRICS AND GYNECOLOGY (2014)

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Article Obstetrics & Gynecology

In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial

Eric J. Forman et al.

FERTILITY AND STERILITY (2013)

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Article Obstetrics & Gynecology

FISH reanalysis of inner cell mass and trophectoderm samples of previously array-CGH screened blastocysts shows high accuracy of diagnosis and no major diagnostic impact of mosaicism at the blastocyst stage

Antonio Capalbo et al.

HUMAN REPRODUCTION (2013)

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Article Obstetrics & Gynecology

Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study

Richard T. Scott et al.

FERTILITY AND STERILITY (2012)

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Review Genetics & Heredity

Human aneuploidy: mechanisms and new insights into an age-old problem

So I. Nagaoka et al.

NATURE REVIEWS GENETICS (2012)

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Article Obstetrics & Gynecology

Association between the number of eggs and live birth in IVF treatment: an analysis of 400 135 treatment cycles

Sesh Kamal Sunkara et al.

HUMAN REPRODUCTION (2011)

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Article Obstetrics & Gynecology

Prevalence of chromosomal mosaicism in pregnancies from couples with infertility

Andy Huang et al.

FERTILITY AND STERILITY (2009)

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Article Biochemistry & Molecular Biology

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

B Fritz et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2001)

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Review Genetics & Heredity

To ERR (meiotically) is human: The genesis of human aneuploidy

T Hassold et al.

NATURE REVIEWS GENETICS (2001)

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On the reproductive capabilities of aneuploid human preimplantation embryos

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