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Related Concept Videos

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Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
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Updated: Jun 5, 2025

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
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Factors affecting couples' decision making about expanded prenatal cell-free DNA screening.

Kelsey Mumford1, Saskia Hendriks1, Skye Miner2

  • 1National Institutes of Health Department of Bioethics, Bethesda, MD.

Genetics in Medicine Open
|December 5, 2024
PubMed
Summary

Intended parents prioritize prenatal cell-free DNA screening for severe, treatable, and early-onset conditions. Most couples desire clear recommendations from clinicians regarding genetic testing options.

Keywords:
BioethicsPrenatal testingcfDNA

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Area of Science:

  • Reproductive Medicine
  • Genetics
  • Maternal-Fetal Medicine

Background:

  • Expanded prenatal screening using cell-free DNA (cfDNA) offers insights into fetal health.
  • Understanding intended parents' preferences is crucial for effective implementation of genetic testing.

Purpose of the Study:

  • To evaluate intended parents' preferences regarding expanded prenatal cfDNA screening.
  • To identify factors influencing decisions about prenatal genetic testing.

Main Methods:

  • A survey was conducted with 494 couples who were pregnant or trying to conceive.
  • Participants independently assessed willingness to undergo cfDNA screening based on disease severity, treatability, onset age, and predictability.
  • Decision-making processes and influencing factors were explored.

Main Results:

  • Testing was most desired for conditions that are completely predictive, have earlier onset, are treatable, and are of highest severity.
  • Availability of termination did not decrease interest; 45% found it increased likelihood of testing.
  • Moderate concordance existed between partners, with most desiring firm screening recommendations.

Conclusions:

  • Couples are information-seeking regarding prenatal testing options.
  • Clinicians play a key role, as most intended parents prefer definitive screening recommendations.