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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
Published on: August 29, 2025
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
Insights
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.
Abstract:
This article focuses on essential components related to prenatal screening for cystic fibrosis, including the clinical disease, inheritance, prognosis and treatment, birth prevalence, and ethnic variability. The molecular basis of this disease is presented, including a discussion of the gene, mutations, and genotype/phenotype correlations. The models that have been used for delivering prenatal screening services in pilot trials are described, along with lessons learned, expected screening performance, and relevant ELSI considerations. A realistic view of laboratory issues is considered, including current standards of performance, guidelines and oversight, and quality assurance. Examples of current laboratory technologies for cystic fibrosis testing are displayed.
