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Related Experiment Videos

ISH and PCR study with Y-specific probe/primers

A M Björkqvist1, M Wessman, M Vuorinen

  • 1Department of Medical Genetics, University of Helsinki, Finland.

Annals of the New York Academy of Sciences
|September 7, 1994
PubMed
Summary

Maternal blood cannot reliably determine fetal sex without fetal cell enrichment. Standard cytogenetics and PCR methods showed low detection rates for fetal sex determination in maternal blood samples.

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Area of Science:

  • Prenatal Diagnostics
  • Molecular Biology
  • Genetics

Background:

  • Non-invasive prenatal testing (NIPT) aims to determine fetal characteristics using maternal blood.
  • Fetal cells circulating in maternal blood offer a potential source for genetic analysis.
  • The reliable detection of fetal cells in maternal blood is crucial for accurate prenatal diagnosis.

Purpose of the Study:

  • To evaluate the efficacy of using whole maternal venous blood for fetal sex determination.
  • To assess the reliability of standard interphase cytogenetics (ISH) and PCR analysis without fetal cell enrichment.

Main Methods:

  • Investigated 39 pregnancies using in situ hybridization (ISH) and 59 pregnancies using polymerase chain reaction (PCR).
  • Analyzed maternal venous blood samples for the presence of Y-chromosome-specific markers.

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  • Utilized standard cytogenetic and PCR techniques without prior enrichment of fetal cells.

    • Main Results:

    • ISH detected Y-positive cells in 12/19 male fetuses and 2/20 female fetuses, with cell frequencies from 1 in 639 to 1 in 100,000.
    • Nested PCR identified a male fetus in 1/26 pregnancies with a male fetus and 1/33 pregnancies with a female fetus.
    • Low detection rates highlight the challenges of identifying rare fetal cells in maternal blood.

    Conclusions:

    • Standard cytogenetics and PCR methods applied to whole maternal blood are unreliable for fetal sex determination.
    • Enrichment of fetal cells from maternal blood is essential for accurate non-invasive prenatal diagnosis.
    • Further advancements in fetal cell isolation techniques are necessary for effective NIPT.