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Related Experiment Videos

Trisomy 18 in chorionic villus sampling: problems and consequences.

A Wirtz1, K P Gloning, J Murken

  • 1Abteilung für pädiatrische Genetik, Kinderpoliklinik der Universität München, Germany.

Prenatal Diagnosis
|August 1, 1991
PubMed
Summary
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First-trimester prenatal diagnosis detected fetal chromosome 18 aberrations. Confirmation via amniotic fluid or long-term cultures is crucial for accurate diagnosis and to prevent false positives for trisomy 18.

Area of Science:

  • Prenatal Diagnosis
  • Cytogenetics
  • Fetal Medicine

Background:

  • First-trimester prenatal diagnosis is vital for detecting fetal chromosomal abnormalities.
  • Chromosome 18 aberrations, including trisomy 18, are significant findings with potential health implications.
  • Early and accurate diagnosis impacts reproductive decision-making.

Purpose of the Study:

  • To evaluate the accuracy of first-trimester prenatal diagnoses for chromosome 18 aberrations.
  • To assess the reliability of direct preparations versus cultured samples for cytogenetic analysis.
  • To determine the necessity of confirmatory testing for suspected chromosome 18 abnormalities.

Main Methods:

  • Analysis of 1547 first-trimester prenatal diagnoses.
  • Detection and characterization of fetal chromosome aberrations, with a focus on chromosome 18.

Related Experiment Videos

  • Comparison of direct preparation results with amniotic fluid cell cultures and fetal cultures for confirmation.

    • Main Results:

    • 100 fetal chromosome aberrations were detected, with 13 involving chromosome 18.
    • In cases of suspected structural abnormalities or mosaic trisomy 18, amniotic fluid cell cultures excluded the aberration in some instances.
    • For non-mosaic trisomy 18, diagnoses were confirmed in four cases and excluded in four cases by subsequent cultures.

    Conclusions:

    • Direct preparation diagnoses of chromosome 18 aberrations require confirmation.
    • Confirmatory testing using long-term chorionic villus sample cultures or amniotic fluid cultures is essential.
    • This approach improves diagnostic accuracy and reduces the risk of false-positive results in first-trimester prenatal diagnosis.