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0%, 232/1,055), of which idiopathic scoliosis and congenital vertebral malformations were the 2 main skeletal malformations (80.6% and 14.2%, respectively). Renal malformations were the second-highest associated extragenital malformations (9.7%, 102/1,055), with unilateral renal agenesis and ectopic kidney being the most common renal malformations (48.0% and 22.5%, respectively).

Type II disease was less common among Chinese patients with MRKH syndrome compared with European patients. Skeletal malformations were more common extragenital malformations than renal malformations in our cohort.

Type II disease was less common among Chinese patients with MRKH syndrome compared with European patients. Skeletal malformations were more common extragenital malformations than renal malformations in our cohort.

To validate and apply a strategy permitting parallel preimplantation genetic testing (PGT) for mitochondrial DNA (mtDNA) disease and aneuploidy (PGT-A).

Preclinical test validation and case reports.

Fertility centers. Diagnostics laboratory.

Four patients at risk of transmitting mtDNA disease caused by m.8993T>G (Patients A and B), m.10191T>G (Patient C), and m.3243A>G (Patient D). Patients A, B, and C had affected children. Patients A and D displayed somatic heteroplasmy for mtDNA mutations.

Embryo biopsy, genetic testing, and uterine transfer of embryos predicted to be euploid and mutation-free.

Test accuracy, treatment outcomes, and mutation segregation.

Accuracy of mtDNA mutation quantification was confirmed. The test was compatible with PGT-A, and half of the embryos tested were shown to be aneuploid (16/33). Mutations were detected in approximately 40% of embryo biopsies from Patients A and D (10/24) but in none from Patients B and C (n = 29). Patients B and C had healthy childrenDNA but were still able to produce mutation-free embryos. While not conclusive, the results are consistent with the existence of mutation-specific segregation mechanisms occurring during oogenesis and possibly embryogenesis.

To evaluate the epigenetic consequence of a prolonged disease state of infertility in euploid blastocysts.

Methylome analysis as well as targeted imprinted methylation and expression analysis on individual human euploid blastocysts examined in association with duration of patient infertility and time to live birth.

Research study.

One hundred four surplus cryopreserved euploid blastocysts of transferrable-quality were donated with informed patient consent and grouped based on time to pregnancy (TTP).

None MAIN OUTCOME MEASURE(S) The Methyl Maxi-Seq platform (Zymo Research) was used to determine genome-wide methylation, while targeted methylation and expression analyses were performed by pyrosequencing and quantitative real-time polymerase chain reaction, respectively. Statistical analyses used Student’s t test, 1-way ANOVA, Fisher’s exact test, and pairwise-fixed reallocation randomization test, where appropriate.

The methylome analysis of individual blastocysts revealed significant alterations at 6,609 CpG sites associated with prolonged infertility (≥60 months) compared with those of fertile controls (0 months). Significant CpG alterations were localized to numerous imprinting control regions and imprinted genes, and several signaling pathways were highly represented among genes that were differentially methylated. click here Targeted imprinting methylation analysis uncovered significant hypomethylation at KvDMR and MEST imprinting control regions, with significant decreases in the gene expression levels upon extended TTP (≥36 months) compared to minimal TTP (≤24 months).

The prolonged disease state of infertility correlates with an altered methylome in euploid blastocysts, with particular emphasis on genomic imprinting regulation, compared with assisted reproductive technologies alone.

The prolonged disease state of infertility correlates with an altered methylome in euploid blastocysts, with particular emphasis on genomic imprinting regulation, compared with assisted reproductive technologies alone.

To explore whether the presence of azoospermia factor c (AZFc) microdeletions adversely affects intracytoplasmic sperm injection (ICSI) outcome.

Retrospective cohort.

University hospital.

A total of 293 patients with azoospermia or severe oligozoospermia AZFc deletions underwent 345 ICSI cycles, and 363 idiopathic patients with normal Y chromosome underwent 462 ICSI cycles.

Testicular sperm aspiration, microdissection testicular sperm extraction.

The main clinical outcome parameters were cumulative clinical pregnancy rate, cumulative live birth delivery rate, and no embryo suitable for transfer cycle rate.

Compared with the control group, the AZFc deletion group exhibited poorer ICSI outcome, with significant differences between the 2 groups for cumulative clinical pregnancy rate (45.39% vs. 67.49%; odds ratio [OR], 2.843; 95% confidence interval [CI]), cumulative live birth delivery rate (35.15% vs. 53.44%; OR, 2.234; 95% CI), no embryo suitable for transfer cycle rate (15.07% vs. 8.23%; OR, 0.565; 95% CI), fertilization rate (46.80% vs. 53.37%; adjusted β, -0.074; 95% CI), implantation rate (28.63% vs. 31.26%; adjusted β, -0.075; 95% CI) separately. The poor ICSI outcome of the AZFc deletion group was related to AZFc microdeletions by linear and logistic regression analyses.

AZFc microdeletions adversely affect ICSI outcome; patients with AZFc deletion should be informed that they have reduced opportunities to be biological fathers.

AZFc microdeletions adversely affect ICSI outcome; patients with AZFc deletion should be informed that they have reduced opportunities to be biological fathers.

To validate a commercially available noninvasive preimplantation genetic testing for aneuploidy (niPGT-A) assay by investigating the following prevalence of deoxyribonucleic acid (DNA) amplification failure with niPGT-A; factors affecting amplification failure with niPGT-A; and frequency of discordant results between niPGT-A and traditional preimplantation genetic testing for aneuploidy.

Prospective cohort study SETTING Academic-affiliated private practice PATIENT(S) One hundred sixty-six blastocysts and their surrounding culture media from couples undergoing invitro fertilization between July 2019 and May 2020 were analyzed.

Blastocyst-stage spent culture media samples underwent niPGT-A using a commercially available kit that used whole-genome amplification with a modified multiple annealing and looping-based amplification cycle protocol followed by next-generation sequencing. Preimplantation genetic testing for aneuploidy of trophectoderm (TE) biopsies was performed using targeted next-generation sequencing.