Prenatal screening for cystic fibrosis: past, present and future
Related Experiment Video
Updated: Aug 17, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Carolyn S Richards1, Wayne W Grody
1Department of Molecular and Medical Genetics, DNA Diagnostic Laboratory, Oregon Health Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239, USA. carolynr@bcm.tmc.edu, richarsu@ohsu.edu
Insights
Prenatal screening for cystic fibrosis (CF) offers early detection. Challenges in CFTR gene mutation testing and clinical implementation require careful consideration for effective screening programs.
Area of Science:
- Medical Genetics
- Molecular Biology
- Obstetrics
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
- Understanding the CFTR gene and its mutations is crucial for diagnosis.
- Historical perspectives and current guidelines inform screening practices.
Purpose of the Study:
- To review prenatal screening for cystic fibrosis.
- To discuss the complexities of CFTR gene mutation testing and clinical implementation.
- To explore current and emerging technologies for CFTR analysis.
Main Methods:
- Review of existing literature on cystic fibrosis screening.
- Analysis of mutation detection technologies for the CFTR gene.
- Examination of laboratory and clinical implementation challenges.
Main Results:
- Various technologies exist for CFTR mutation testing, each with advantages and limitations.
- Significant challenges remain in laboratory processes and clinical integration of screening.
- Quality assurance, education, and counseling are vital for successful implementation.
Conclusions:
- Prenatal screening for cystic fibrosis involves complex genetic and clinical considerations.
- Effective implementation requires robust quality assurance and comprehensive patient education.
- Ongoing technological advancements and strategic planning are essential for optimizing CF screening.
Abstract:
Prenatal screening for cystic fibrosis is reviewed. The disease, gene involved, molecular basis of disease, genotype/phenotype correlations and pilot trials are discussed, as well as historical perspectives, background and American College of Medical Genetics/American College of Obstetricians and Gynecologists recommendations. A number of complex challenges to the implementation of cystic fibrosis screening exist, including mutation testing of the cystic fibrosis transmembrane conductance regulator gene (CFTR), as well as laboratory and clinical issues. Current technologies for CFTR testing include reverse dot blots, amplification refractory mutation detection systems, oligonucleotide ligation assays, the Invader assay and NanoChip system. Emerging technologies are also considered, as well as quality assurance measures including analytical and clinical validation, reporting, residual risk calculations and prenatal diagnosis. An even greater challenge is clinical implementation, which focuses upon education and communication, choosing models, reporting, counseling and prenatal diagnosis.
More Related Videos
Related Concept Videos
02:46Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
01:23Cystic Fibrosis: Pathogenesis
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...
01:29Pharmacogenomics: Identification of New Drug Targets
01:28Development of the Oral Microbiota