Duchenne and Becker muscular dystrophies are X-linked genetic disorders characterized by dystrophin gene defects. We have studied 250 families with Duchenne and Becker muscular dystrophies (D/BMD) by molecular genetic methods since 1992. Nineteen exons of the dystrophin gene were analyzed for deletion. In families with no deletion, linkage analysis was performed to follow the inheritance of mutant alleles in the affected families. Twenty of these families requested prenatal diagnosis. Six mothers were found to be non-carriers (99% accuracy), thus fetuses were examined in the remaining 14. Two fetuses were affected and terminated. We report our experience and our current clinical practice in providing prenatal studies for D/BMD.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Incidence and predictors of adverse birth outcomes among women who gave birth at Assosa general hospital, Northwest Ethiopia: a retrospective cohort study.
BMC Pregnancy Childbirth
January 2025
Department of Public Health, College of Health Science, Assosa University, Benishangul-Gumuz region, Assosa Town, Ethiopia.
Background: Adverse birth outcomes are a significant public health problem worldwide, particularly in low- and middle-income countries. Adverse birth outcomes have significant immediate and long-term health consequences for infants and their families. Understanding the determinants of adverse birth outcomes is crucial to effective interventions.
View Article and Find Full Text PDFIdentifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics
January 2025
Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Background: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.
Methods: A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies.
Fetal cardiac function in pregnancy affected by congenital heart disease: protocol for a multicentre prospective cohort study.
BMC Pregnancy Childbirth
January 2025
Royal Hospital for Women and UNSW, School of Clinical Medicine, Level 0, Royal Hospital for Women, Barker Street (Locked Bag 2000), Sydney, NSW, 2031, Australia.
Background: Congenital heart disease (CHD) is the most common fetal malformation, and it can result first in cardiac remodeling and dysfunction and later in cardiac failure and hydrops. A limited number of studies have evaluated cardiac function in fetuses affected by CHD. Functional parameters could potentially identify fetuses at risk of cardiac failure before its development.
View Article and Find Full Text PDFIs maternal diabetes during pregnancy associated with neurodevelopmental, cognitive and behavioural outcomes in children? Insights from individual participant data meta-analysis in ten birth cohorts.
BMC Pediatr
January 2025
Nutrition & Health Innovation Research Institute, Edith Cowan University, Perth, WA, Australia.
Background: Growing evidence shows that dysregulated metabolic intrauterine environments can affect offspring's neurodevelopment and behaviour. However, the results of individual cohort studies have been inconsistent. We aimed to investigate the association between maternal diabetes before pregnancy and gestational diabetes mellitus (GDM) with neurodevelopmental, cognitive and behavioural outcomes in children.
View Article and Find Full Text PDFRole of fibrinogen-like 2 (FGL2) proteins in implantation: Potential implications and mechanism.
Gene
January 2025
Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan 430062, China; Clinical Medicine Research Center of Prenatal Diagnosis and Birth Health in Hubei Province, Wuhan, Hubei 430062, China. Electronic address:
Fibrinogen-like (Fgl2) protein belongs to fibrinogen super family, which catalyzes the conversion of prothrombin to thrombin and is involved in the coagulation process. There are two different forms of functional Fgl2 protein: membrane associated Fgl2 (mFgl2) and soluble Fgl2 (sFgl2). mFgl2, as a type II transmembrane protein with property with prothrombinase activity from its N-terminal fragment, was extensively secreted or expressed by inflammatory macrophages, dendritic cells, Th1 cells and endothelial cells.
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!