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Updated: Jan 18, 2026

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
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Noninvasive Prenatal Diagnostics: Recent Developments Using Circulating Fetal Nucleated Cells.

Chen Pin-Jung1, Teng Pai-Chi1, Yazhen Zhu1

  • 1Department of Molecular and Medical Pharmacology, California NanoSystems Institute, Crump Institute for Molecular Imaging, University of California, Los Angeles, Los Angeles, CA, USA.

Current Obstetrics and Gynecology Reports
|October 1, 2019
PubMed
Summary

Noninvasive prenatal diagnostics (NIPD) are advancing with circulating fetal cells. Circulating trophoblasts (cTBs) show promise for confirming fetal genetics and parentage, surpassing limitations of cell-free fetal DNA screening.

Keywords:
Array Comparative Genomic HybridizationCirculating Fetal Nucleated Red Blood CellCirculating TrophoblastNoninvasive Prenatal DiagnosticShort Tandem RepeatWhole Genome Amplification

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Area of Science:

  • Reproductive biology
  • Genetics
  • Molecular diagnostics

Background:

  • Invasive prenatal diagnostics (amniocentesis, chorionic villus sampling) are gold standards for fetal genetic abnormalities.
  • Noninvasive prenatal DNA screening (cfDNA) is limited by fragmentation and maternal DNA interference.
  • Recent research focuses on noninvasive prenatal diagnostic (NIPD) methods using fetal cells.

Purpose of the Study:

  • To review recent research advances in noninvasive prenatal diagnostic methods.
  • To highlight the potential of circulating fetal cells for NIPD.
  • To discuss challenges and future directions in the field.

Main Methods:

  • Focus on fetal nucleated red blood cells (fNRBCs) and circulating trophoblasts (cTBs) for NIPD.
  • Enrichment and isolation of circulating fetal cells from maternal blood.
  • Whole genome profiling and short tandem repeat (STR) identification using cTBs.

Main Results:

  • Enriched cTBs successfully used for whole genome profiling and STR identification, confirming feto-maternal relationship.
  • Analysis of isolated fNRBCs currently limited to fetal cytogenetics.
  • cTB enumeration correlates with abnormal fetal or placental development.

Conclusions:

  • Circulating fetal nucleated cells (CFNCs), particularly cTBs, offer a path to true noninvasive prenatal diagnostics.
  • Enrichment of low-abundance CFNCs is the primary technical challenge.
  • Trophoblast-based NIPD, including from endocervical samples, shows significant promise.