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Related Experiment Videos

Cytogenetic studies in perinatal death.

A Smith1, P Bannatyne, P Russell

  • 1Department of Health, Royal Prince Alfred Hospital, New South Wales.

The Australian & New Zealand Journal of Obstetrics & Gynaecology
|August 1, 1990
PubMed
Summary

Cytogenetic studies on perinatal deaths revealed abnormal karyotypes in 15.5% of stillbirths and 25% of neonatal deaths. Timely tissue culture, especially from fresh stillbirths, is crucial for identifying fetal genetic abnormalities.

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Area of Science:

  • Perinatal Medicine
  • Cytogenetics
  • Fetal Pathology

Background:

  • Perinatal mortality encompasses stillbirths and neonatal deaths, often requiring etiological investigation.
  • Cytogenetic analysis is essential for diagnosing congenital anomalies in deceased fetuses.
  • Successful tissue culture is critical for obtaining analyzable metaphases.

Purpose of the Study:

  • To evaluate the efficacy of cytogenetic studies on fetal tissues from perinatal deaths.
  • To determine the optimal conditions and tissue types for successful fetal tissue culture.
  • To assess the frequency of abnormal karyotypes in stillbirths and neonatal deaths.

Main Methods:

  • Cytogenetic studies were performed on tissue from 136 perinatal deaths (98 stillbirths, 38 neonatal deaths).

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  • Tissue viability and culture success rates were assessed based on post-mortem interval and tissue type.
  • Karyotype analysis was correlated with autopsy findings of congenital anomalies.

    • Main Results:

    • Analyzable metaphases were obtained from 46% of stillbirths and 84% of neonatal deaths.
    • Abnormal karyotypes were identified in 15.5% of stillbirths and 25% of neonatal deaths, all with congenital anomalies.
    • Placental tissue showed higher viability; fresh stillbirth tissues grew successfully (69%), unlike macerated stillbirth tissues.

    Conclusions:

    • Cytogenetic analysis is valuable in investigating perinatal deaths, particularly those with congenital anomalies.
    • Prompt tissue collection and culture, prioritizing fresh stillbirths and placental tissue, improve diagnostic yield.
    • Amniocentesis is recommended for compromised fetuses without identifiable maternal factors during pregnancy.