Unbalanced chromosome abnormalities (UBCA) are large genomic region variations that often result in minimal clinical effects. Copy number variants (CNVs), such as microdeletions and microduplications in 15q11.2, have been linked to various health issues, making prenatal diagnosis and genetic counselling challenging. Microdeletions and microduplications in the genomic region 15q11.2 are associated with congenital heart defects, autism, schizophrenia, epilepsy, mental retardation and developmental delay. The literature on this microduplication is confusing and extensive, which is a great difficulty for prenatal diagnosis and genetic counselling. A 35-year-old female undergoing amniocentesis at Week 19 due to advanced maternal age revealed a normal 46,XX karyotype through G-banding analysis. However, Chromosomal microarray analysis (CMA) on the same amniocytes detected a 550-Kb maternally inherited chromosomal microduplication in 15q11.2. An integrated approach combining karyotype analysis, CMA, genetic counseling, and prenatal ultrasound is crucial for the accurate prenatal diagnosis of UBCAs and CNVs.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Reduced portal vein blood flow velocity in acute fatty liver of pregnancy.
Front Med (Lausanne)
December 2024
Department of Medical Ultrasound, Jinshan Hospital of Fudan University, Shanghai, China.
Purpose: Acute fatty liver of pregnancy (AFLP) is a severe complication that can occur in the third trimester or immediately postpartum, characterized by rapid hepatic failure. This study aims to explore the changes in portal vein blood flow velocity and liver function during pregnancy, which may assist in the early diagnosis and management of AFLP.
Methods: This longitudinal study was conducted at a tertiary healthcare center with participants recruited from routine antenatal check-ups.
Prenatal diagnosis of midgut volvulus by fetal MRI: a retrospective study.
Front Pediatr
December 2024
Department of Medical Imaging, Second Hospital of Hebei Medical University, Shijiazhuang, China.
Background: Fetal midgut volvulus is a rare disease, with a high risk of potentially life-threatening fetal complications.
Purpose: The aim of this study was to retrospectively analyze the imaging findings of fetal midgut volvulus diagnosed by magnetic resonance imaging (MRI) and explore its value in non-invasive prenatal diagnosis.
Methods: A retrospective collection of data from 156 fetuses suspected of intestinal obstruction by ultrasound examination in our hospital was conducted.
Blazing the Trail of Non-Invasive Prenatal Screening Expanded Use: Healthcare Providers' Perspectives.
Prenat Diagn
January 2025
Programme de Bioéthique, École de santé publique, Université de Montréal, Montréal, Canada.
Objective: Advancements in non-invasive prenatal screening (NIPS) could significantly alter prenatal screening by expanding the range of genetic conditions screened. This study aims to explore the perspectives of healthcare professionals (HCP) on the expanded use of NIPS and explore specifications for the inclusion of genetic conditions.
Method: Semi-structured interviews were conducted with Canadian HCPs who counsel pregnant individuals about NIPS.
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.
Prenat Diagn
January 2025
Université Paris Cité, Inserm, NeuroDiderot, Paris, France.
Objective: Fetal intracranial hemorrhage (FICH) is a rare and potentially deleterious condition. Fetal alloimmune thrombocytopenia and pathogenic variations in COL4A1/A2 genes are well-recognized causes of FICH. However, pathogenic COL4A1/A2 variations are identified in only 20% of fetuses referred for FICH after excluding other known causes, leaving the majority unexplained and making genetic counseling difficult.
View Article and Find Full Text PDFLethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.
Clin Genet
January 2025
Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
SUMOylation involves covalent attachment of small ubiquitin-like modifier (SUMO) proteins to specific lysine residues on target proteins and regulates various aspects of their function. Sentrin-specific proteases (SENPs) are key players in both the conjugation reaction of SUMO proteins to their targets and the subsequent deconjugation of SUMO-conjugated substrates. Here, we provide the first comprehensive prenatal description of a lethal syndrome linked to a novel homozygous stop-gain variant in SENP7 c.
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!