Clinical outcomes of single blastocyst transfer with machine learning guided noninvasive chromosome screening grading system in infertile patients DOI Creative Commons
Xiaoxi Li,

Yaxin Yao,

Dunmei Zhao

et al.

Reproductive Biology and Endocrinology, Journal Year: 2024, Volume and Issue: 22(1)

Published: May 23, 2024

Abstract Background Prospective observational studies have demonstrated that the machine learning (ML) -guided noninvasive chromosome screening (NICS) grading system, which we called screening-artificial intelligence (NICS-AI) can be used embryo selection. The current prospective interventional clinical study was conducted to investigate whether this NICS-AI system as a powerful tool for Methods Patients who visited our centre between October 2018 and December 2021 were recruited. Grade A B embryos with high probability of euploidy transferred in NICS group. patients control group selected according traditional morphological grading. Finally, 90 161 compared statistically their outcomes. Results In group, pregnancy rate (70.0% vs. 54.0%, p < 0.001), ongoing (58.9% 44.7%, = live birth (56.7% 42.9%, 0.001) significantly higher than those When female ≥ 35 years old, (67.7% 32.1%, (56.5% 25.0%, (54.8% Regardless had previous record early spontaneous abortion or not, (61.0% 46.9%; 57.9% 34.8%; 33.3% 0%) but differences not significant. Conclusions able improve utilisation rate, especially transfer being preferred, followed by embryos. an effective selection future.

Language: Английский

Human embryo live imaging reveals nuclear DNA shedding during blastocyst expansion and biopsy DOI Creative Commons
Ana Domingo-Muelas, Robin M. Skory, Adam A. Moverley

et al.

Cell, Journal Year: 2023, Volume and Issue: 186(15), P. 3166 - 3181.e18

Published: July 1, 2023

Language: Английский

Citations

35
Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy DOI Creative Commons
Manuel Viotti, Ermanno Greco, J. Grifo

et al.

Fertility and Sterility, Journal Year: 2023, Volume and Issue: 120(5), P. 957 - 966

Published: July 31, 2023

Language: Английский

Citations

33
Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos DOI Creative Commons
Rajiv C. McCoy, Michael C. Summers,

Abeo McCollin

et al.

Genome Medicine, Journal Year: 2023, Volume and Issue: 15(1)

Published: Oct. 2, 2023

Abstract Background The high incidence of aneuploidy in early human development, arising either from errors meiosis or postzygotic mitosis, is the primary cause pregnancy loss, miscarriage, and stillbirth following natural conception as well vitro fertilization (IVF). Preimplantation genetic testing for (PGT-A) has confirmed prevalence meiotic mitotic aneuploidies among blastocyst-stage IVF embryos that are candidates transfer. However, only about half normally fertilized develop to blastocyst stage vitro, while others arrest at cleavage late morula stages. Methods To achieve a more complete view impacts aneuploidy, we applied low-coverage sequencing-based PGT-A large series ( n = 909) arrested trophectoderm biopsies. We then correlated observed with abnormalities first two divisions using time-lapse imaging 843). Results combined was strongly associated morphological grading, proportion ranging 20 90% highest lowest grades, respectively. In contrast, exceptionally (94%), dominated by affecting multiple chromosomes. turn, these were abnormal divisions, such 51% abnormally dividing possessed compared 23% embryos. Conclusions conclude combination drives development increasingly relies on embryonic gene expression stage.

Language: Английский

Citations

32
Towards Automation in IVF: Pre-Clinical Validation of a Deep Learning-Based Embryo Grading System during PGT-A Cycles DOI Open Access
Danilo Cimadomo,

V Chiappetta,

Federica Innocenti

et al.

Journal of Clinical Medicine, Journal Year: 2023, Volume and Issue: 12(5), P. 1806 - 1806

Published: Feb. 23, 2023

Preimplantation genetic testing for aneuploidies (PGT-A) is arguably the most effective embryo selection strategy. Nevertheless, it requires greater workload, costs, and expertise. Therefore, a quest towards user-friendly, non-invasive strategies ongoing. Although insufficient to replace PGT-A, morphological evaluation significantly associated with embryonic competence, but scarcely reproducible. Recently, artificial intelligence-powered analyses have been proposed objectify automate image evaluations. iDAScore v1.0 deep-learning model based on 3D convolutional neural network trained time-lapse videos from implanted non-implanted blastocysts. It decision support system ranking blastocysts without manual input. This retrospective, pre-clinical, external validation included 3604 808 euploid transfers 1232 cycles. All were retrospectively assessed through v1.0; therefore, did not influence embryologists' decision-making process. was morphology although AUCs euploidy live-birth prediction 0.60 0.66, respectively, which rather comparable performance. objective reproducible, while evaluations are not. In retrospective simulation, would ranked as top quality in 63% of cases one or more aneuploid blastocysts, questioned 48% two live birth. may evaluations, randomized controlled trials required assess its clinical value.

Language: Английский

Citations

31
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss DOI Creative Commons
Rick Essers, И. Н. Лебедев, Ants Kurg

et al.

Nature Medicine, Journal Year: 2023, Volume and Issue: 29(12), P. 3233 - 3242

Published: Nov. 23, 2023

Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence these and allocation (ab)normal cells in embryonic placental lineages during intrauterine development remain elusive. In this study, we analyzed 1,745 spontaneous pregnancy losses found that roughly half (50.4%) products conception (POCs) were karyotypically abnormal, with maternal paternal age independently contributing to increased genomic aberration rate. We applied genome haplarithmisis a subset 94 normal parental POC karyotypes. Genotyping DNA as well extra-embryonic mesoderm chorionic villi DNA, representing trophoblastic tissues, enabled characterization landscape both lineages. Of losses, 35.1% had aberrations not previously detected karyotyping, increasing rate 67.8% extrapolation. contrast viable pregnancies where mosaic are restricted villi, such confined mosaicism, higher degree imbalances rather than villi. Our results stress importance scrutinizing full allelic architecture improve clinical management basic research devastating condition.

Language: Английский

Citations

27
Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism DOI
Ermanno Greco, Pavel Yakovlev, N. N. Kornilov

et al.

Human Reproduction, Journal Year: 2023, Volume and Issue: 38(2), P. 315 - 323

Published: Jan. 4, 2023

The health risks associated with transferring embryos classified as mosaic by preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Such produce PGT-A results indicating the presence of both euploid and aneuploid cells have historically been deselected from transfer grouped uniformly 'abnormal'. In recent years, numerous groups reported intentional in absence embryos, largely observing births seemingly healthy babies. However, it remains to be understood whether embryonic mosaicism invariably becomes resolved during ensuing pregnancy, or placenta and/or fetal tissues retain cells, if so what potential clinical effect. Here, we report two cases persisting stage established pregnancy. Case 1 involved an low-level segmental loss Chromosome (Chr) 1, which was confirmed amniocentesis well brain tissue products conception. This pregnancy terminated due chromosomal pathologies 1p36 deletion syndrome, such severe intellectual disability. 2 a Chr 21 trisomy, chorionic villus sampling amniocentesis. after ultrasound identification abnormalities fetus. Together, these should taken into account risk-benefit assessments prospective embryo transfers.

Language: Английский

Citations

23
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study DOI Creative Commons
Geerke M. Eggenhuizen, Attie T. J. I. Go,

Zoë Sauter

et al.

Prenatal Diagnosis, Journal Year: 2024, Volume and Issue: 44(3), P. 289 - 296

Published: Feb. 11, 2024

Abstract Objective To evaluate which cytogenetic characteristics of confined placental mosaicism (CPM) detected in the first trimester chorionic villi and/or placentas terms chromosome aberration, cell lineage involved and trisomy origin will lead to fetal growth restriction low birthweight. Methods Cohort study using routinely collected perinatal data non‐invasive prenatal testing, sampling postnatal placentas. Results 215 CPM cases were found. Fetal (FGR) birthweight below 10 th percentile (BW < p10) seen 34.0% 23.1%, respectively. Excluding 16, 29.1% showed FGR 17.9% had a BW p10. The highest rate p10 was found type 3, but differences with 1 2 not significant. significantly more often observed meiotic trisomies. Conclusion There is an association between This restricted neither nor involving trisomy. Pregnancies all types origins should be considered at increased risk A close monitoring indicated CPM.

Language: Английский

Citations

14
Human embryonic genetic mosaicism and its effects on development and disease DOI
Sarah M. Waldvogel, Jennifer E. Posey, Margaret A. Goodell

et al.

Nature Reviews Genetics, Journal Year: 2024, Volume and Issue: unknown

Published: April 11, 2024

Language: Английский

Citations

13
In Vitro Culture of Mammalian Embryos: Is There Room for Improvement? DOI Creative Commons
Roberto Gualtieri, Vincenza De Gregorio, Andrea Candela

et al.

Cells, Journal Year: 2024, Volume and Issue: 13(12), P. 996 - 996

Published: June 7, 2024

Preimplantation embryo culture, pivotal in assisted reproductive technology (ART), has lagged innovation compared to selection advancements. This review examines the persisting gap between vivo and vitro development, emphasizing need for improved culture conditions. While humans this is hardly estimated, animal models, particularly bovines, reveal clear disparities developmental competence, cryotolerance, pregnancy live birth rates vitro-produced (IVP) vivo-derived (IVD) embryos. Molecular analyses unveil distinct differences morphology, metabolism, genomic stability, underscoring refining conditions better ART outcomes. To end, a deeper comprehension of oviduct physiology transport crucial grasping embryo–maternal interactions’ mechanisms. Research on autocrine paracrine factors, extracellular vesicles tract interactions, elucidates vital communication networks successful implantation pregnancy. In vitro, confinement, density are key factors boost development. Advanced dynamic systems mimicking fluid mechanical stimulation oviduct, through vibration, tilting, microfluidic methods, use innovative softer substrates, hold promise optimizing

Language: Английский

Citations

9
APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos DOI Open Access
Pieter Verdyck,

Veerle Berckmoes,

Elia Fernandez Gallardo

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(2), P. 115 - 115

Published: Jan. 21, 2025

Background/Objectives: Preimplantation genetic testing methods to detect aneuploidy (PGT-A) based on genomewide single nucleotide polymorphism (SNP) data were scarce and did not meet our needs. Methods: Hence, we developed a novel method for this purpose. After the raw B-allele frequency (rBAF) values of Single Nucleotide Polymorfisms (SNPs) are obtained from sample interest with SNP array, BAF specific categories SNPs (cBAF) visualized separately. Results: The analysis cBAF, rBAF Log2R profiles enables distinguish all common types chromosomal abnormalities without haplotyping. This was demonstrated by reanalyzing 359 embryos which had previously been analyzed Karyomapping. We identified additional underrepresented maternal haplotypes in five samples that could In addition, chromosomes meiotic-origin copy number gains (both parental homolog (BPH)) (n = 70) non-mosaic loss larger than 5 Mb 93) detected Conclusions: conclude proposed can be used reliably haplotyping and, hence need phasing reference.

Language: Английский

Citations

1