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Related Experiment Videos

First trimester prenatal diagnosis using transcervical cells: an evaluation

M Adinolfi1, J Sherlock

  • 1Galton Laboratory and Department of Obstetrics and Gynaecology, University College London, UK.

Human Reproduction Update
|July 1, 1997
PubMed
Summary

Human trophoblastic cells from transcervical cell (TCC) samples enable prenatal diagnosis. Molecular techniques like FISH and PCR can identify fetal genetic material for inherited disorders.

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Area of Science:

  • Reproductive biology
  • Genetics
  • Molecular diagnostics

Background:

  • Human trophoblastic cells are accessible via minimally invasive procedures.
  • Detection rates of fetal cells in transcervical cell (TCC) samples depend on collection and molecular methods.
  • Previous studies show successful detection of aneuploidies and Y-DNA in TCC samples.

Purpose of the Study:

  • To evaluate the potential of using TCC samples for prenatal diagnosis.
  • To explore various molecular techniques for fetal cell identification in TCC samples.
  • To assess the feasibility of diagnosing inherited disorders using TCC samples.

Main Methods:

  • Fluorescence in-situ hybridization (FISH) for aneuploidy detection.
  • Polymerase chain reaction (PCR) for Y-DNA sequences and Rh(D) status.

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  • Quantitative fluorescent PCR for identifying fetal cells using small tandem repeats.
  • Isolation of cell clumps from TCC samples for genetic analysis.

    • Main Results:

    • FISH and PCR successfully detected aneuploidies and Y-DNA in TCC samples from male fetuses.
    • Quantitative fluorescent PCR identified fetal cells in TCC samples.
    • Rh(D) sequences were amplified from samples of Rh(D) negative mothers.
    • Preliminary data suggest prenatal diagnosis of thalassaemia and sickle cell anaemia is possible.

    Conclusions:

    • TCC samples offer a viable route for prenatal diagnosis.
    • Advanced molecular techniques enhance fetal cell detection and genetic analysis.
    • TCC sampling shows promise for the prenatal diagnosis of specific inherited disorders.