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Related Experiment Video

Updated: Nov 6, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Published on: August 25, 2019

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Overview and recent developments in cell-based noninvasive prenatal testing.

Liesbeth Vossaert1, Imen Chakchouk2, Roni Zemet1

  • 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Prenatal Diagnosis
|May 11, 2021
PubMed
Summary
This summary is machine-generated.

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Investigating fetal cells in maternal circulation offers a noninvasive prenatal genetic testing (NIPT) alternative. Cell-based NIPT using fetal cells shows promise, despite isolation challenges.

Area of Science:

  • Reproductive biology
  • Genetics
  • Obstetrics

Background:

  • Fetal and placental cells naturally enter maternal circulation.
  • Detecting and isolating these rare cells is technically difficult.
  • Cell-based noninvasive prenatal genetic testing (NIPT) offers advantages over cell-free DNA methods.

Purpose of the Study:

  • To review global studies on cell-based NIPT.
  • To highlight the benefits and drawbacks of different cell-based NIPT approaches.
  • To provide guidance for developing robust cell-based NIPT protocols.

Main Methods:

  • Review of published literature on cell-based NIPT.
  • Analysis of fetal cell isolation and detection techniques.
  • Comparison of circulating fetal cells and endocervical trophoblasts for NIPT.

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FISH for Pre-implantation Genetic Diagnosis
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Last Updated: Nov 6, 2025

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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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FISH for Pre-implantation Genetic Diagnosis
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Main Results:

  • Fetal cells in maternal circulation are scarce but valuable for NIPT.
  • Endocervical trophoblasts are less rare but harder to recover.
  • Various methods exist for cell-based NIPT, each with pros and cons.

Conclusions:

  • Cell-based NIPT holds significant potential for prenatal genetic testing.
  • Further research is needed to optimize cell recovery and isolation techniques.
  • Standardized protocols are essential for reliable cell-based NIPT development.