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[Rapid diagnostic method for detecting Down syndrome in newborns].

E P Tardy1, A Tóth

  • 1Semmelweis Egyetem, Budapest, Egészségtudományi Kar, Szülészeti- és Nógyászati Klinika, Praenatalis Genetikai Központ.

Orvosi Hetilap
|May 26, 2001
PubMed
Summary

Fluorescence in situ hybridization (FISH) is effective for rapid Down syndrome detection in newborns using buccal or blood smears. This method offers a valuable alternative to traditional cytogenetics, especially when rapid results are needed.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neonatal Medicine

Context:

  • Down syndrome (Trisomy 21) diagnosis in newborns.
  • Limitations of traditional cytogenetic analysis for rapid diagnosis.
  • Need for accessible and quick diagnostic methods in neonatal care.

Purpose:

  • To evaluate the applicability of Fluorescence In Situ Hybridization (FISH) for detecting Down syndrome in neonates.
  • To compare FISH results with established cytogenetic diagnoses.
  • To assess the utility of FISH on buccal and peripheral blood smears for rapid Down syndrome screening.

Summary:

  • FISH analysis was performed on buccal and peripheral blood smears from 11 infants with prior cytogenetic results and 15 neonates prospectively.
  • All FISH results correlated perfectly with the cytogenetic diagnoses.

Related Experiment Videos

  • In the prospective group, FISH correctly identified Down syndrome in 12 neonates and confirmed healthy status in 3.

    • Impact:

    • FISH provides a rapid and accurate diagnostic tool for Down syndrome in newborns.
    • The technique is particularly useful in settings lacking access to or experiencing failures with classical cytogenetic analysis.
    • Easy sample preparation and transportability of slides enhance its clinical utility for timely diagnosis.