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Related Experiment Video

Updated: Jul 8, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Recent progress in non-invasive prenatal diagnosis.

Sinuhe Hahn1, Xiao Yan Zhong, Wolfgang Holzgreve

  • 1University Women's Hospital/Department of Biomedicine, University Hospital Basel, Switzerland. shahn@uhbs.ch

Seminars in Fetal & Neonatal Medicine
|January 22, 2008
PubMed
Summary

Analyzing cell-free fetal DNA in maternal blood offers promising diagnostic tools for fetal rhesus D status and sex. Further research is needed to detect more complex fetal genetic traits and conditions like Down syndrome.

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Area of Science:

  • Reproductive biology
  • Genetics
  • Molecular diagnostics

Background:

  • Fetal cells in maternal circulation have been known for over a century.
  • Analysis of cell-free fetal DNA (cfDNA) in maternal plasma/serum has advanced diagnostic capabilities.
  • Current cfDNA analysis is limited to fetal genetic markers absent in the maternal genome.

Purpose of the Study:

  • To explore the potential of cfDNA analysis for diagnosing fetal genetic traits.
  • To investigate methods for detecting subtle fetal genetic variations and aneuploidies.
  • To assess the feasibility of using cfDNA for conditions like Down syndrome.

Main Methods:

  • Analysis of cell-free fetal DNA (cfDNA) in maternal plasma/serum.
  • Focus on fetal genetic loci absent in the maternal genome.

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Last Updated: Jul 8, 2026

FISH for Pre-implantation Genetic Diagnosis
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Published on: February 23, 2011

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

  • Exploration of epigenetically modified genes (e.g., maspin) for aneuploidy detection.
  • Quantitative assessment of placentally derived cell-free mRNA (e.g., PLAC4) for Down syndrome detection.

    • Main Results:

    • Clinical services for fetal rhesus D status and sex determination using cfDNA are available.
    • Detection of subtle fetal genetic traits, such as point mutations, remains challenging.
    • Preliminary findings suggest potential for detecting fetal aneuploidies using epigenetic markers.
    • Recent developments indicate feasibility of detecting Down syndrome via chromosome-21-specific mRNA analysis.

    Conclusions:

    • cfDNA analysis has established clinical applications for fetal sex and RhD status.
    • Detecting complex fetal genetic disorders via cfDNA requires further technological advancement.
    • Epigenetic markers and cell-free mRNA show promise for non-invasive prenatal diagnosis of aneuploidies and genetic conditions like Down syndrome.