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Related Experiment Videos

Mosaicism: implications for postnatal outcome

A Johnson1, R J Wapner

  • 1Prenatal Diagnostic Centre, Lexington, Massachusatte, USA.

Current Opinion in Obstetrics & Gynecology
|April 1, 1997
PubMed
Summary
This summary is machine-generated.

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Mosaicism in prenatal diagnosis can be challenging. Advances help identify cases with risks to fetal development, even with normal fetal karyotypes, due to placental issues or genetic imprinting.

Area of Science:

  • Prenatal diagnosis
  • Cytogenetics
  • Fetal medicine

Background:

  • Mosaicism in chorionic villi or amniocyte cultures poses interpretative challenges.
  • Abnormal cell lines may represent in-vitro events or confined placental mosaicism.
  • Distinguishing true fetal mosaicism from confined placental mosaicism is crucial.

Purpose of the Study:

  • To explore advances in laboratory medicine for assessing the clinical significance of mosaicism.
  • To identify risks associated with confined placental mosaicism despite a normal fetal karyotype.
  • To understand the impact of genetic imprinting and uniparental disomy.

Main Methods:

  • Cytogenetic analysis of chorionic villi and cultured amniocytes.
  • Evaluation of laboratory medicine advancements.

Related Experiment Videos

  • Review of cases with confined placental mosaicism and normal fetal karyotypes.

    • Main Results:

    • Laboratory advances aid in determining the clinical significance of mosaicism.
    • Confined placental mosaicism can increase risks for poor perinatal outcomes.
    • Specific chromosomal abnormalities in confined placental mosaicism may lead to genetic imprinting issues.

    Conclusions:

    • Interpreting mosaicism requires careful consideration of fetal versus extra-embryonic origins.
    • Advances in diagnostics improve risk assessment for mosaic findings.
    • Understanding genetic imprinting is vital in cases of confined placental mosaicism.