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Related Experiment Videos

Trisomy 21. Second-trimester ultrasound.

M H Graupe1, C S Naylor, N H Greene

  • 1Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California, USA.

Clinics in Perinatology
|August 14, 2001
PubMed
Summary

Ultrasound screening for Down syndrome (trisomy 21) is effective but has limitations. Nuchal thickness is a key marker, but genetic testing is recommended for major abnormalities.

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Area of Science:

  • Prenatal diagnosis
  • Medical imaging
  • Genetics

Background:

  • Ultrasound screening for fetal chromosomal abnormalities, particularly Down syndrome (trisomy 21), is a valuable tool.
  • Sonographic findings for trisomy 21 can be subtle, with normal amniotic fluid, placentation, and growth often observed.
  • Many chromosomal abnormalities share overlapping sonographic findings with Down syndrome and phenotypically normal fetuses.

Purpose of the Study:

  • To highlight the continued importance and effectiveness of second-trimester ultrasound screening for Down syndrome.
  • To emphasize the role of trained sonographers in risk assessment for trisomy 21.
  • To underscore the necessity for parental understanding of screening test limitations and confirmatory testing.

Main Methods:

Related Experiment Videos

  • Second-trimester ultrasound examination.
  • Assessment of fetal markers, including nuchal thickness.
  • Consideration of karyotype determination when major structural abnormalities are identified.

    • Main Results:

    • Nuchal thickness in the first or second trimester is a clinically useful marker for trisomy 21.
    • Ultrasound findings for trisomy 21 can be non-specific, with significant overlap with normal fetuses.
    • The predictive value of ultrasound markers is influenced by population, biochemical markers, and historical factors.

    Conclusions:

    • Ultrasound remains a powerful tool in prenatal genetic evaluation, used alone or with biochemical markers.
    • Despite limitations, ultrasound plays a crucial role in prenatal diagnosis until non-invasive fetal cell isolation is widely available.
    • Karyotype determination is recommended if major structural abnormalities are detected via ultrasound.