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Updated: May 5, 2026

FISH for Pre-implantation Genetic Diagnosis
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Chapter 2: Non-invasive prenatal diagnosis.

Stephanie K Allen1, Samantha Doyle2

  • 1Birmingham Women's and Children's NHS Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TG, UK.

Best Practice & Research. Clinical Obstetrics & Gynaecology
|September 10, 2024
PubMed
Summary

Non-invasive prenatal diagnosis (NIPD) uses cell-free fetal DNA from maternal blood for genetic testing. This rapid, sensitive method aids in diagnosing monogenic disorders during pregnancy without invasive procedures.

Keywords:
Cell-free DNAHaplotypeInheritanceMonogenic disordersPrenatal diagnosisVariant

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Area of Science:

  • Genetics
  • Molecular Biology
  • Prenatal Medicine

Background:

  • Non-invasive prenatal diagnosis (NIPD) is increasingly used in clinical settings for monogenic disorders.
  • It involves analyzing cell-free fetal DNA (cfDNA) from maternal plasma, which is challenging due to low concentration and mixed maternal/fetal origins.

Purpose of the Study:

  • To review the current state and future prospects of NIPD for monogenic disorders.
  • To highlight the necessity for rapid, sensitive, and specific diagnostic methods.

Main Methods:

  • Real-time PCR
  • Digital PCR
  • Next-generation sequencing with complex algorithms

Main Results:

  • NIPD is becoming a diagnostic tool, especially for pregnancies with increased risk or ultrasound abnormalities.
  • Confirmation via invasive testing is often not required for NIPD results.

Conclusions:

  • The integration of NIPD into routine care is expanding.
  • Advancements in genomic technologies will likely increase demand and applications for NIPD in prenatal diagnostics.