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Updated: Jul 17, 2025

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Noninvasive Prenatal Screening for Single-Gene Disorders.

Zenobia Gonsalves1, Susan Klugman

  • 1Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.

Clinical Obstetrics and Gynecology
|August 31, 2023
PubMed
Summary
This summary is machine-generated.

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Prenatal screening for single-gene disorders (SGDs) using cell-free DNA faces challenges, particularly with maternally inherited variants. Current methods have limitations and lack support from medical societies.

Area of Science:

  • Genetics
  • Molecular Biology
  • Prenatal Diagnostics

Background:

  • Single-gene disorders (SGDs), or monogenic disorders, result from variants in individual genes.
  • Prenatal cell-free DNA (cfDNA) screening for SGDs has been researched for many years.
  • Detecting maternally inherited variants presents a significant hurdle in prenatal SGD screening.

Purpose of the Study:

  • To evaluate the current state and limitations of prenatal cell-free DNA screening for single-gene disorders.
  • To highlight the challenges associated with detecting maternally inherited variants.

Main Methods:

  • Review of existing research and clinical applications of prenatal cfDNA screening for SGDs.
  • Analysis of the technical difficulties in identifying paternally, maternally, and de novo variants.

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Last Updated: Jul 17, 2025

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Main Results:

  • While detecting paternal and de novo variants is relatively feasible, maternally inherited variants remain challenging.
  • Commercial prenatal cfDNA screening tests for SGDs are available but possess notable limitations.
  • Current professional medical societies do not endorse the use of these SGD screening methods.

Conclusions:

  • Prenatal cfDNA screening for SGDs is an evolving field with significant technical challenges.
  • The limitations and lack of professional endorsement restrict the widespread clinical utility of current SGD screening approaches.