- Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families. [Journal Article]
- CONCLUSIONS: Our findings expand the OI mutational spectrum and suggest that reproductive decision-making may vary according to the sex of the affected parent, inheritance patterns, and phenotypic severity. A high cesarean section rate and skeletal complications were observed among women with OI during pregnancy, indicating that maternal and obstetric outcomes warrant careful attention in this population. Moreover, PGT was associated with healthy live births in this cohort and may reduce the likelihood of affected pregnancies in selected families.
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- Effects of assisted reproductive techniques on offspring cardiovascular health: a systematic review and meta-analysis. [Review]
- Assisted reproductive techniques (ART) are increasingly used worldwide. Concerns persist regarding the long-term cardiovascular health of ART-conceived offspring. To systematically review and meta-analyze cardiovascular, vascular, and echocardiographic outcomes in ART-conceived offspring compared with naturally conceived children. PubMed and Scopus were searched from database inception to January…
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- Planned oocyte cryopreservation (POC): a longitudinal study of patient experience. [Journal Article]
- CONCLUSIONS: POC patients found most aspects of treatment less difficult than they had initially anticipated, with recovery from the egg collection being the most difficult aspect of treatment.
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- RNA m[6]A modification and its regulatory factors are altered in granulosa cells from women with PMOS. [Journal Article]
- CONCLUSIONS: Coordinated alterations in global m[6]A abundance, m[6]A regulatory genes and the selected microRNAs indicate widespread epitranscriptomic dysregulation in GCs from women with PMOS, providing a foundation for future mechanistic and therapeutic studies.
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- Procedure-specific environmental microbiological monitoring in IVF laboratories: the SMILE multicenter study. [Journal Article]
- CONCLUSIONS: Environmental microbiological burden in IVF laboratories is procedure-dependent and strongly associated with environmental cleanliness class. These findings support a procedure-specific, risk-based approach to environmental monitoring in MAR laboratories using settle plate-based air monitoring.
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- Counseling regarding preimplantation genetic testing for aneuploidy after Dobbs. [Letter]
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- Consistency and reproducibility of sonographic diagnosis of adenomyosis: an interobserver variability study. [Journal Article]
- CONCLUSIONS: Our findings demonstrate only fair interobserver reproducibility for the sonographic assessment of adenomyosis based on the assessment of stored static ultrasound images using the revised MUSA criteria. This degree of variability highlights the challenges associated with consistent interpretation of sonographic features and suggests a need for further refinement and improved standardization of diagnostic approaches.
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- Biallelic FSIP2 variants are associated with sperm defective chromatin condensation beyond MMAF and acrosomal abnormalities. [Journal Article]
- CONCLUSIONS: These findings suggest an expansion of the genotypic and phenotypic spectrum of FSIP2-associated male infertility. In the two cases studied, biallelic FSIP2 variants were associated with classical MMAF and acrosomal abnormalities, as well as with abnormal nuclear ultrastructure and increased CMA3 staining indicative of impaired chromatin condensation. However, further studies are needed to establish whether these nuclear features represent a direct consequence of FSIP2 deficiency.
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- The outcomes of surrogate pregnancy using donor egg compared to surrogate's egg: a systematic review. [Journal Article]
- CONCLUSIONS: Current best available evidence is sparse but suggests higher rates of adverse obstetric and birth outcomes in GS pregnancies, concurring with donor egg non-surrogacy pregnancy research, and underlying causes are likely genetic. More research is needed comparing GS to TS and to SC and reporting singleton and twin pregnancy results. All parties considering GS should be informed of higher maternal and neonatal complication rates.
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- Follicular kisspeptin-VEGF axis in polycystic ovary syndrome and ovarian hyperstimulation syndrome. [Journal Article]
- CONCLUSIONS: Follicular fluid levels of Kisspeptin-1, Kisspeptin-54, and VEGF are significantly elevated in ovarian hyperresponse conditions and exhibit strong associations with key indicators of ovarian stimulation outcomes. These findings suggest that Kisspeptin-54 and VEGF reflect the biological features of ovarian hyperresponsiveness and may serve as complementary biomarkers of the follicular microenvironment, rather than clinically actionable predictors of OHSS.
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- Distinct metabolomic profiles in lean and non-lean polyendocrine metabolic ovarian syndrome. [Journal Article]
- CONCLUSIONS: Metabolomic signatures of PMOS differ by BMI phenotype. Minimal disturbances were noted in lean PMOS patients. In contrast, PMOS patients with overweight BMI demonstrate broader metabolomic differences and subsequent implications.
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- Ovarian ageing: from biological constraint to emerging therapeutic frontier. [Review]
- Ovarian ageing is a central determinant of female reproductive potential, defined by a progressive and largely irreversible decline in both the quantity and the quality of oocytes. Although the process is universal, its onset and pace vary widely, and early ovarian ageing (EOA) affects a substantial minority of women, contributing to subfertility, miscarriage and earlier menopause. This narrative…
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- Concordant mtDNA heteroplasmy between trophectoderm and inner cell mass supports blastocyst-stage PGT-mt for m.14487T>C. [Journal Article]
- CONCLUSIONS: These findings provide variant-specific evidence that blastocyst TE biopsy can be representative of the ICM for m.14487 T > C, supporting combined PGT-A/PGT-mt at the blastocyst stage. Nevertheless, given the possibility of heteroplasmy shifts later in development, prenatal diagnosis and postnatal follow-up remain advisable when a heteroplasmic embryo is transferred.
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- Presumed recurrent monozygotic dichorionic diamniotic twinning following programmed single thawed euploid embryo transfer cycles: a case report. [Journal Article]
- To our knowledge, this is the first documented case of presumed recurrent monozygotic (MZT) dichorionic diamniotic (DCDA) twin gestations following programmed single thawed euploid embryo transfer (STEET) cycles in an individual who is herself a MZT twin. This report presents a 34-year-old nulligravid female patient and her 33-year-old male partner with unexplained infertility who underwent in vi…
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- Novel biallelic PATL2 variants causing predominant germinal vesicle arrest and recurrent ART failure: expanded mutational spectrum and evidence-based reproductive counseling guidance. [Journal Article]
- CONCLUSIONS: Biallelic pathogenic PATL2 variants constitute a major monogenic driver of refractory GV-predominant OOMD and complete recurrent ART failure. This work substantially expands the global spectrum of disease-causing PATL2 variants. Our clinical and molecular findings support routine PATL2 genetic screening for patients with unexplained repeated ART failure and uniform GV oocyte arrest and enable personalized reproductive counseling. This study establishes a framework for further functional validation and the development of targeted therapies for PATL2-mediated female infertility and provides actionable genetic testing criteria for ART clinics.
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