Related Experiment Videos
Prenatal screening for cystic fibrosis
Carolyn S Richards1, James E Haddow
1Diagnostic Sequencing Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030-6182, USA. carolynr@bcm.tmc.edu
Clinics in Laboratory Medicine
|July 10, 2003
Summary
Prenatal screening for cystic fibrosis (CF) is crucial. This review covers CF disease, inheritance, molecular basis, screening models, and laboratory testing technologies for effective prenatal diagnosis.
Area of Science:
- Genetics and Molecular Biology
- Reproductive Health
- Clinical Diagnostics
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
- Understanding CF's inheritance, prognosis, and prevalence is key for screening.
- Ethnic variability in CF impacts screening strategies.
Purpose of the Study:
- To provide a comprehensive overview of prenatal screening for cystic fibrosis.
- To discuss the molecular basis, including gene mutations and genotype/phenotype correlations.
- To evaluate prenatal screening models, performance, and ethical, legal, and social implications (ELSI).
Main Methods:
- Review of clinical disease, inheritance, prognosis, and treatment of CF.
- Analysis of the molecular basis: gene, mutations, and genotype/phenotype correlations.
- Description of prenatal screening models, pilot trials, and lessons learned.
Main Results:
- Detailed presentation of CF's clinical aspects and molecular underpinnings.
- Evaluation of different prenatal screening service delivery models.
- Discussion of laboratory standards, quality assurance, and current testing technologies for CF.
Conclusions:
- Effective prenatal screening for cystic fibrosis requires understanding the disease, its genetic basis, and screening implementation.
- Laboratory performance, quality assurance, and ELSI considerations are vital for successful prenatal CF screening programs.
- Current technologies support robust cystic fibrosis testing in prenatal settings.