Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510373 | PMC |
| http://dx.doi.org/10.1007/s10815-012-9862-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prenatal phenotype of PNKP-related microcephaly, seizures, and developmental delay: A case report and literature review.
Medicine (Baltimore)
January 2025
The Reproductive Medicine Centre, Weifang People's Hospital, Shandong Second Medical University, Weifang, Shandong, China.
Rationale: Microcephaly, epilepsy, and developmental delay (MCSZ) is a rare neurodevelopmental disorder associated with autosomal recessive inheritance of mutations in the polynucleotide kinase 3'-phosphatase (PNKP) gene. Prompt identification and management are essential, as delayed diagnosis or intervention may result in severe complications or mortality. In this case, prenatal screening in the second trimester detected fetal microcephaly with a gradual decline in head circumference, prompting the decision to terminate the pregnancy.
View Article and Find Full Text PDFAn Integrative Approach to Precision Pre-implantation Genetic Diagnosis by Investigating Single-cell Sequencing, Polygenic Risk Assessment, Artificial Intelligence-guided Embryo Selection and Genome Editing in Embryos with COL4A1 c.1537G>A Mutation.
J Hum Reprod Sci
December 2024
Department of Genomics, Sandor Speciality Diagnostics, Hyderabad, Telangana, India.
Endometriosis does not impact aneuploidy rates of products of conception in IVF population.
Sci Rep
January 2025
Centre for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
It has been debated whether endometriosis (EMS) adversely affects oocyte quality, potentially leading to a higher incidence of genetically unbalanced embryos or other egg factors that affect the developmental potential. In this study, we explored the effects of endometriosis on risk of chromosomally aberrant in miscarried products of conception (POC) after assisted reproductive treatment (ART), including fresh and frozen cycles. Miscarried POCs were collected from EMS patients (N = 102) and non-EMS patients (N = 441).
View Article and Find Full Text PDFLarge-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Genet Med Open
October 2024
Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Exeter, United Kingdom.
Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.
Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.
Is germline genome-editing person-affecting or identity-affecting, and does it matter?
Bioethics
January 2025
Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Writers have debated whether germline genome-editing is person-affecting or identity-affecting. The difference is thought to be ethically relevant to whether we should choose genome-editing or choose preimplantation genetic diagnosis and embryo selection, when seeking to prevent or produce bad conditions (e.g.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!