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Updated: Aug 29, 2025

FISH for Pre-implantation Genetic Diagnosis
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Prenatal genetic testing 1: screening tests.

Morgan Jenkins1, Angela R Seasely2, Akila Subramaniam2

  • 1University of Alabama at Birmingham Heersink School of Medicine.

Current Opinion in Pediatrics
|September 9, 2022
PubMed
Summary
This summary is machine-generated.

New prenatal genetic screening tests, like cell-free DNA (cfDNA) testing, offer high accuracy for common conditions such as trisomy. However, their application for rarer genetic conditions requires more research support.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Obstetrics

Background:

  • Prenatal genetic testing encompasses screening and diagnostic approaches for evaluating at-risk pregnancies.
  • Carrier screening and aneuploidy screening are key components of prenatal genetic evaluation.

Approach:

  • This review focuses on prenatal genetic screening tests, highlighting advancements in the field.
  • Cell-free DNA (cfDNA) testing represents a significant non-invasive technological advancement in prenatal screening.

Key Points:

  • Cell-free DNA (cfDNA) testing demonstrates high accuracy for detecting common aneuploidies like trisomy 21, 18, and 13.
  • The application of cfDNA testing for less common genetic conditions currently lacks robust research support.
  • Educating healthcare providers on the evidence base for various genetic tests is crucial.

Conclusions:

  • Prenatal cfDNA screening offers improved accuracy and ease of administration for specific genetic conditions compared to older methods.
  • Continuous updates by professional organizations are necessary to align testing strategies with evolving technologies and patient needs.