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Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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...

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Updated: Jul 1, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

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.

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FISH for Pre-implantation Genetic Diagnosis

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Published on: February 23, 2011

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.