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Cell-free DNA Screening for Aneuploidy.

Mary E Norton1

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|August 31, 2023
PubMed
Summary
This summary is machine-generated.

Cell-free DNA (cfDNA) screening effectively detects fetal aneuploidies but requires diagnostic confirmation due to its non-diagnostic nature. Counseling is crucial, addressing limitations and offering further testing for positive screens or nonreportable results.

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Area of Science:

  • Genetics
  • Prenatal Diagnostics
  • Molecular Biology

Background:

  • Cell-free DNA (cfDNA) screening is a widely adopted method for detecting common fetal autosomal aneuploidies.
  • While effective, cfDNA screening is not a diagnostic test and requires confirmation through invasive procedures.
  • A small percentage of cfDNA screenings yield nonreportable results, which are associated with increased risks.

Purpose of the Study:

  • To emphasize the importance of positive predictive value in counseling following cfDNA screening.
  • To highlight the necessity of offering diagnostic testing for confirmation after a positive cfDNA screen.
  • To discuss the implications of nonreportable results and the causes of false positives in cfDNA screening.

Main Methods:

  • Review of existing literature on cfDNA screening performance and outcomes.
  • Analysis of factors contributing to nonreportable results and false positives.
  • Emphasis on the role of pretest counseling and education.

Main Results:

  • cfDNA screening demonstrates high detection rates for fetal aneuploidies but is not diagnostic.
  • Nonreportable results occur in approximately 3% of cases and are linked to increased aneuploidy and adverse perinatal outcomes.
  • False-positive cfDNA results can arise from confined placental mosaicism, maternal copy number variants, mosaicism, and maternal cancer.

Conclusions:

  • Positive predictive value of cfDNA screening must be central to post-screening counseling.
  • Diagnostic testing should always be offered to confirm positive cfDNA screening results.
  • Comprehensive pretest education on benefits, risks, and limitations is essential before cfDNA screening.