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[Prenatal diagnosis]

P Miny1, S Tercanli, D Gänshirt

  • 1Abteilung Medizinische Genetik, Universitätskinderklinik, Basel.

Therapeutische Umschau. Revue Therapeutique
|December 1, 1995
PubMed
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Prenatal diagnosis of fetal diseases has advanced significantly with improved ultrasound and lab methods. Screening and invasive procedures like amniocentesis and chorionic villus sampling aid in detecting aneuploidy and genetic disorders.

Area of Science:

  • Medical Genetics
  • Prenatal Diagnostics
  • Fetal Medicine

Context:

  • Advances in ultrasound and laboratory techniques have expanded in-utero fetal disease diagnosis.
  • Maternal serum screening and ultrasound are key tools for identifying high-risk pregnancies for aneuploidy.
  • Invasive procedures remain crucial for definitive diagnosis of various fetal conditions.

Purpose:

  • To review current and emerging methods for prenatal diagnosis of fetal diseases.
  • To highlight the role of screening tests and invasive procedures in managing pregnancies at risk.
  • To discuss the diagnostic utility of different fetal cells and tissues.

Summary:

  • Maternal serum screening (e.g., AFP, hCG, uE3) identifies Down syndrome risk, with ongoing research for first-trimester screening.

Related Experiment Videos

  • Amniocentesis and chorionic villus sampling are established invasive methods for aneuploidy and genetic disorder diagnosis.
  • Fetal cells from maternal circulation, cordocentesis, placental biopsy, skin, and liver biopsies offer diagnostic options for specific fetal conditions.

    • Impact:

    • Improved prenatal detection rates for fetal aneuploidies and genetic disorders.
    • Enhanced ability to counsel and manage pregnancies based on accurate fetal diagnoses.
    • Facilitates timely intervention and planning for affected newborns.