98%
921
2 minutes
20
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.fertnstert.2025.02.014 | DOI Listing |
Eur J Obstet Gynecol Reprod Biol
August 2025
Reproductive Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen 518000 Guangdong, China; Shenzhen Clinical Research Center for Obstetrics & Gynecology and Reproductive System Diseases, Shenzhen 518000 Guangdong, China. Electronic address: szfyart
Objective: This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission.
Methods: This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE.
Hum Reprod
September 2025
Boston IVF-IVIRMA Global Research Alliance, Waltham, MA, USA.
Study Question: Does a high proportion of immature oocytes impact embryo development and live birth rates in IVF-ICSI cycles?
Summary Answer: While a high proportion of immature oocytes is associated with lower blastocyst formation and reduced preimplantation genetic testing for aneuploidy (PGT-A) utilization, live birth rates remain comparable when key confounders-such as age, BMI, gonadotropin dosage, and metaphase-II (MII) count-are balanced, but cycles with a very low MII proportion resulted in fewer embryo transfers, which is quantitatively limiting, even if embryo quality appears unaffected.
What Is Known Already: Previous studies have linked a lower proportion of mature oocytes (MII) to decreased fertilization rates, abnormal embryo development, and lower pregnancy and live birth rates. However, it remains unclear whether these outcomes are due to quantitative limitations (fewer mature oocytes available) or qualitative deficiencies (intrinsic oocyte quality issues).
J Assist Reprod Genet
September 2025
Department of Reproductive Medicine, General Hospital of Northern Theater Command, No. 83, Wenhua Road, Shenhe District, Shenyang, 110016, China.
Objective: The association between anti-Müllerian hormone (AMH) levels and embryonic aneuploidy rates was investigated by analyzing clinical and embryo laboratory data from patients with preimplantation genetic testing for aneuploidy (PGT-A). However, the nonlinear relationship and threshold effect of AMH on aneuploidy risk remain poorly understood.
Methods: This retrospective study analyzed the clinical data of 819 PGT-A cycles performed between January 2018 and August 2024 at the General Hospital of Northern Theater Command.
Dev Cell
August 2025
Friedrich Miescher Institute for Biomedical Research, 4056 Basel, Switzerland; Faculty of Sciences, University of Basel, 4056 Basel, Switzerland. Electronic address:
Except for regulatory CpG-island sequences, genomes of most mammalian cells are widely DNA-methylated. In oocytes, though, DNA methylation (DNAme) is largely confined to transcribed regions. The mechanisms restricting de novo DNAme in oocytes and their relevance thereof for zygotic genome activation and embryonic development are largely unknown.
View Article and Find Full Text PDF