Related Experiment Video
Updated: Jul 1, 2025
09:16
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
19.6K
Cell-Free DNA Screening for Single-Gene Disorders
Brighton S Goodhue1, Sky E Danity2, Neeta Vora3
1Certified Genetic Counselor, Division of Maternal Fetal Medicine.
Obstetrical & Gynecological Survey
|March 14, 2024
Summary
Cell-free DNA (cfDNA) screening for single-gene disorders is not widely recommended due to limitations. Comprehensive genetic counseling is essential before considering these tests in specific situations.
Area of Science:
- Genetics
- Molecular Biology
- Obstetrics
Background:
- Cell-free DNA (cfDNA) in maternal blood originates from placental DNA.
- cfDNA screening is established for common aneuploidies.
- Emerging cfDNA tests screen for single-gene disorders.
Purpose of the Study:
- Review cfDNA screening technology for single-gene disorders.
- Summarize current syndromes screened.
- Outline limitations and recommendations.
Main Methods:
- Literature review of research articles, reviews, white papers, and guidelines.
Main Results:
- Medical societies do not currently recommend cfDNA screening for single-gene disorders.
- Potential use in specific circumstances with pretest counseling.
- Consideration for fetal anomalies after diagnostic testing is declined.
Conclusions:
- Caution is advised for cfDNA screening of single-gene disorders due to limitations.
- Requires involvement of genetic specialists for counseling.
- Ensures appropriate utilization and understanding of test constraints.
