Biallelic variants in DLGAP5 cause spindle assembly defects and human early embryonic arrest.

Study Question: What effects do DLGAP5 defects have on human early embryo development?

Summary Answer: DLGAP5 deficiency disrupts normal spindle assembly through its interaction with TACC3, leading to female infertility characterized by recurrent early embryonic arrest (REEA).

What Is Known Already: REEA is a significant contributor to failures in assisted reproductive technology. While genetic factors play a crucial role, known gene variants account for only a small proportion of affected individuals, leaving many underlying genetic factors yet to be elucidated.

Clinical and perinatal outcomes of fully hatched versus not fully hatched blastocysts.

Objective: To compare the clinical and perinatal outcomes following the transfer of fully hatched (FH) and not fully hatched (NFH) blastocysts in assisted reproductive technology.

Methods: This study enrolled women undergoing their first oocyte retrieval cycle with a freeze-all strategy, provided that they had at least one transferrable embryo. Patients were classified into preimplantation genetic testing for aneuploidy (PGT-A) cycles and non-PGT cycles, including thawed blastocysts (thawed-blast) and blastocysts cultured from thawed day 3 embryos (blast-thawed-d3).

An interpretable artificial intelligence approach to differentiate between blastocysts with similar or same morphological grades.

Study Question: Can a quantitative method be developed to differentiate between blastocysts with similar or same inner cell mass (ICM) and trophectoderm (TE) grades, while also reflecting their potential for live birth?

Summary Answer: We developed BlastScoringNet, an interpretable deep-learning model that quantifies blastocyst ICM and TE morphology with continuous scores, enabling finer differentiation between blastocysts with similar or same grades, with higher scores significantly correlating with higher live birth rates.

What Is Known Already: While the Gardner grading system is widely used by embryologists worldwide, blastocysts having similar or same ICM and TE grades cause challenges for embryologists in decision-making. Furthermore, human assessment is subjective and inconsistent in predicting which blastocysts have higher potential to result in live birth.

Biallelic variants in α-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest.

Background: Recurrent preimplantation embryo developmental arrest (RPEA) is the most common phenotype in assisted reproductive technology treatment failure associated with identified genetic abnormalities. Currently known maternal genetic variants explain only a limited number of cases. Variants of the β-tubulin subunit gene, , cause oocyte meiotic arrest and RPEA through a broad spectrum of spindle defects.

A generalized AI system for human embryo selection covering the entire IVF cycle via multi-modal contrastive learning.

fertilization (IVF) has revolutionized infertility treatment, benefiting millions of couples worldwide. However, current clinical practices for embryo selection rely heavily on visual inspection of morphology, which is highly variable and experience dependent. Here, we propose a comprehensive artificial intelligence (AI) system that can interpret embryo-developmental knowledge encoded in vast unlabeled multi-modal datasets and provide personalized embryo selection.

Very severe oligozoospermia with AZFc microdeletion patients may affect intracytoplasmic sperm injection clinical outcomes: A propensity score matching analysis.

Purpose: To explore whether spermatozoa from AZFc microdeletion patients affect their outcomes of intracytoplasmic sperm injection (ICSI).

Methods: Eighty-five patients with AZFc microdeletion were recruited. A control group of one hundred and forty patients with severe oligozoospermia but without AZF microdeletion was selected using propensity score matching analysis with a 1:2 nearest neighbor algorithm ratio.

Clinical outcomes in carriers of insertional translocation: a retrospective analysis of comprehensive chromosome screening results.

Objective: To evaluate the clinical outcomes in the carriers of insertional translocation (IT).

Design: Retrospective case series.

Setting: University-affiliated reproductive medical center.

Extended application of PGT-M strategies for small pathogenic CNVs.

Purpose: The preimplantation genetic testing for aneuploidy (PGT-A) platform is not currently available for small copy-number variants (CNVs), especially those < 1 Mb. Through strategies used in PGT for monogenic disease (PGT-M), this study intended to perform PGT for families with small pathogenic CNVs.

Methods: Couples who carried small pathogenic CNVs and underwent PGT at the Reproductive and Genetic Hospital of CITIC-Xiangya (Hunan, China) between November 2019 and April 2023 were included in this study.

Transcriptomic profiles reveal the characteristics of oocytes and cumulus cells at GV, MI, and MII in follicles before ovulation.

Background: The oocyte and its surrounding cumulus cells (CCs) exist as an inseparable entity. The maturation of the oocyte relies on communication between the oocyte and the surrounding CCs. However, oocyte evaluation is primarily based on morphological parameters currently, which offer limited insight into the quality and competence of the oocyte.

Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study.

Background: Preimplantation genetic testing for aneuploidy (PGT-A) is widely used as an embryo selection technique in in vitro fertilization (IVF), but its effectiveness and potential beneficiary populations are unclear.

Methods: This retrospective cohort study included patients who underwent their first oocyte retrieval cycles at CITIC-Xiangya between January 2016 and November 2019, and the associated fresh and thawed embryo transfer cycles up to November 30, 2020. PGT-A (PGT-A group) and intracytoplasmic sperm injection (ICSI)/IVF (non-PGT-A group) cycles were included.

Oxygen concentration from days 1 to 3 after insemination affects the embryo culture quality, cumulative live birth rate, and perinatal outcomes.

Purpose: We aimed to compare embryo development, cumulative live birth rate (CLBR), and perinatal outcomes of embryos cultured in 20% and 5% oxygen from days 1 to 3 after insemination.

Methods: This retrospective study included patients who received in vitro fertilization (IVF) treatment between January 2015 and November 2019. Embryos of each patient were cultured at 20% or 5% oxygen from days 1-3 after insemination.

Conventional IVF is feasible in preimplantation genetic testing for aneuploidy.

Purpose: To investigate the feasibility of the application of conventional in vitro fertilization (cIVF) for couples undergoing preimplantation genetic testing for aneuploidies (PGT-A) with non-male factor infertility.

Methods: To evaluate the efficiency of sperm whole-genome amplification (WGA), spermatozoa were subjected to three WGA protocols: Picoplex, ChromInst, and multiple displacement amplification (MDA). In the clinical studies, 641 couples who underwent PGT-A treatment for frozen embryos between January 2016 and December 2021 were included to retrospectively compare the chromosomal and clinical outcomes of cIVF and intracytoplasmic sperm injection (ICSI).

Embryo development, pregnancy and live birth outcomes following IVF treatment were not compromised during the COVID-19 pandemic.

Purpose: To evaluate whether outcomes of in vitro fertilization (IVF) are affected during the coronavirus disease-19 (COVID-19) pandemic.

Methods: This was a single-center, retrospective study. Embryo development, pregnancy, and live birth outcomes were compared between COVID-19 and pre-COVID-19 groups.

The impact of blastocyst freezing and biopsy on the association of blastocyst morphological parameters with live birth and singleton birthweight.

Objective: To explore whether the associations of 3 blastocyst morphological parameters, namely, degree of blastocyst expansion (expansion), appearance of trophectoderm (TE) and inner cell mass, with live birth and singleton birth weight are influenced by blastocyst freezing and biopsy.

Design: A retrospective study.

Setting: An assisted reproductive technology center.

Vacuolization in embryos on days 3 and 4 of development: Association with stimulation protocols, embryo development, chromosomal status, pregnancy and neonatal outcomes.

Study Question: Is vacuolization in embryos on Days 3 and 4 associated with parent-related factors, stimulation protocols, embryo development, embryo ploidy, pregnancy and neonatal outcomes?

Study Design Size Duration: This is a retrospective cohort study that comprised 5,703 embryos from 611 patients who underwent preimplantation genetic testing and time-lapse monitoring of their embryos from August 2017 to September 2021.

Main Results: Embryo vacuolization on Days 3 and 4 is associated with the LH level on the day of the hCG trigger and the number of retrieved oocytes. Compared to vacuole-negative embryos, the rates of blastocyst formation and good-blastocyst formation was significantly lower in vacuole-positive embryos.

Segmental aneuploidies with 1 Mb resolution in human preimplantation blastocysts.

Purpose: This study aimed to investigate the spectrum and characteristics of segmental aneuploidies (SAs) of <10 megabase (Mb) length in human preimplantation blastocysts.

Methods: Preimplantation genetic testing for aneuploidy was performed in 15,411 blastocysts from 5171 patients using a validated 1 Mb resolution platform. The characteristics and spectrum of SAs, including the incidence, sizes, type, inheritance pattern, clinical significance, and embryo distribution, were studied.

Non-invasive preimplantation genetic testing for conventional IVF blastocysts.

Background: Previous studies suggested that non-invasive preimplantation genetic testing (niPGT) for intracytoplasmic sperm injection (ICSI) blastocysts can be used to identify chromosomal ploidy and chromosomal abnormalities. Here, we report the feasibility and performance of niPGT for conventional in vitro fertilization (IVF) blastocysts.

Methods: This was a prospective observational study.

Identification of Novel Variants of Thyroid Hormone Receptor Interaction Protein 13 That Cause Female Infertility Characterized by Zygotic Cleavage Failure.

Zygotic cleavage failure (ZCF) is a severe, early type of embryonic arrest in which zygotes cannot complete the first cleavage. Although mutations in and have been identified as genetic causes of ZCF, these genes only explain a small population of ZCF cases. Thus, the underlying genetic causes for other affected individuals need to be identified.

Trophectoderm Biopsy Differentially Influences the Level of Serum β-Human Chorionic Gonadotropin With Different Embryonic Trophectoderm Scores in Early Pregnancy From 7847 Single-Blastocyst Transfer Cycles.

Objective: To evaluate whether trophectoderm (TE) biopsy differentially influence the level of serum β-human chorionic gonadotropin (β-hCG) with different TE-scored blastocysts transferred in early pregnancy.

Methods: This retrospective cohort study contained 7847 single-blastocyst transfer cycles executed between January 2019 and June 2020, including 2657 preimplantation genetic testing (PGT) cycles and 5190 fertilization (IVF) or intracytoplasmic sperm injection (ICSI) cycles. All cycles were classified into biopsy and control groups, and further stratified based on the TE morphological scores into three subgroups: grades A, B, and C for TE scores, respectively.

Non-invasive Metabolomic Profiling of Embryo Culture Medium Using Raman Spectroscopy With Deep Learning Model Predicts the Blastocyst Development Potential of Embryos.

This study aimed to establish a non-invasive predicting model via Raman spectroscopy for evaluating the blastocyst development potential of day 3 high-quality cleavage stage embryos. Raman spectroscopy was used to detect the metabolic spectrum of spent day 3 (D3) embryo culture medium, and a classification model based on deep learning was established to differentiate between embryos that could develop into blastocysts (blastula) and that could not (non-blastula). The full-spectrum data for 80 blastula and 48 non-blastula samples with known blastocyst development potential from 34 patients were collected for this study.

Biallelic variants in cause female infertility characterised by recurrent preimplantation embryo arrest.

Background: Recurrent preimplantation embryo developmental arrest (RPEA) is the most common cause of assisted reproductive technology treatment failure associated with identified genetic abnormalities. Variants in known maternal genes can only account for 20%-30% of these cases. The underlying genetic causes for the other affected individuals remain unknown.

An increase of phosphatidylcholines in follicular fluid implies attenuation of embryo quality on day 3 post-fertilization.

Background: Although oocyte quality is the dominant factor determining embryo quality, few studies have been conducted to evaluate embryo quality based on the metabolites related to the oocyte. With quantification of the follicular fluid (FF) metabolites, in assisted reproductive technology (ART), this study sought to evaluate the embryo or oocyte quality through an informative approach.

Results: An evaluation model consisting of 17 features was generated to distinguish the embryo quality on day 3 post-fertilization, and phosphatidylcholines (PCs) were the key contributors to the evaluation.