Related Experiment Video
Updated: Jul 28, 2026
08:00
Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
Preventing cystic fibrosis in the RSA
H W Hitzeroth1, E M Petersen, J Herbert
1Genetic Services, Department of National Health and Population Development, Pretoria.
Summary
Prenatal diagnosis for cystic fibrosis (CF) in South Africa uses microvillar enzyme (MVE) assays and DNA testing. Current services reach only a quarter of the need, highlighting a gap in genetic services for CF families.
Area of Science:
- Medical Genetics
- Reproductive Medicine
- Public Health
Background:
- Prenatal diagnostic testing for cystic fibrosis (CF) has been available in South Africa since 1984 (microvillar enzyme assay) and 1987 (DNA investigation).
- The study reviews the advantages and practical applications of these diagnostic methods.
Purpose of the Study:
- To evaluate the utilization and effectiveness of prenatal diagnostic testing for cystic fibrosis in South Africa.
- To assess the current capacity of genetic services in meeting the demand for CF prenatal diagnosis.
Main Methods:
- Review of data from 1984-1989 on microvillar enzyme (MVE) assays and DNA investigations for prenatal CF diagnosis.
- Analysis of population genetic and demographic data to estimate service needs and coverage.
Main Results:
- Over 71 pregnancies tested in high-risk families, 18 fetuses were diagnosed with CF; 15 of these resulted in termination.
- Microvillar enzyme assays yielded equivocal results in 2 cases, leading to affected births.
- Current prenatal diagnosis and prevention efforts meet approximately 25% of the estimated annual need.
- Only about 60% of projected high-risk families are currently registered for genetic services.
Conclusions:
- Significant gaps exist in the provision and uptake of prenatal diagnostic services for cystic fibrosis in South Africa.
- Increased awareness and targeted information campaigns are crucial to engage more CF families in genetic services.
- The identification of the CF gene in 1989 offers opportunities to expand prevention strategies to include lower-risk and extended families.
More Related Videos
Related Concept Videos
01:03Rous Sarcoma Virus (RSV) and Cancer
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
01:24Cystic Fibrosis: Management
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Sinus disease and chronic sinusitis...
01:21Drugs for Treatment of Constipation-Predominant IBS
Pharmacological therapies for IBS-C are designed to alleviate abdominal discomfort and enhance bowel function. In patients with IBS-C, fiber supplements may help soften stools and decrease straining, but may also lead to increased gas production and bloating. Osmotic laxatives like milk of magnesia are frequently used to soften stools and increase stool frequency in IBS-C patients. In addition, two drugs approved for use in severe IBS-C adult cases are linaclotide (Linzess) and lubiprostone...
01:29Respiratory Syncytial Virus Disease
Human respiratory syncytial virus (RSV) is a widespread pathogen that primarily targets infants and young children but also poses a serious health risk to elderly and immunocompromised individuals. Belonging to the Pneumoviridae family, RSV is a negative-sense, single-stranded RNA virus within the Pneumovirus genus. Its global health burden is significant, with millions of cases annually resulting in hospitalizations and mortality, particularly in resource-limited settings. Although most...