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Related Experiment Videos

Identifying Ultrasound Markers for Down Syndrome

Martin1, Gardner, Rappaport

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of New Mexico Health Sciences Center, Albuquerque, N.M.

Medscape Women'S Health
|June 1, 1997
PubMed
Summary

Maternal age alone is insufficient for Down syndrome screening. Advanced ultrasound techniques, combined with biochemical markers, improve detection rates for trisomy 21, potentially reducing invasive procedures.

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Area of Science:

  • Maternal-Fetal Medicine
  • Prenatal Diagnostics
  • Genetics

Background:

  • Maternal age is a known risk factor for Down syndrome (trisomy 21).
  • Current screening methods, including maternal age and biochemical markers (triple-screen test), have limitations in detection rates.
  • Ultrasound evaluation is increasingly utilized for prenatal screening of chromosomal anomalies.

Purpose of the Study:

  • To evaluate the effectiveness of ultrasound as a screening tool for fetal Down syndrome.
  • To identify specific ultrasound markers associated with trisomy 21.
  • To assess the potential of ultrasound to reduce the need for invasive diagnostic procedures.

Main Methods:

  • Review of ultrasound findings in fetuses with chromosomal defects.

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  • Categorization of ultrasound markers into major malformations and specific screening indicators for Down syndrome.
  • Comparison of ultrasound screening with traditional methods like maternal age and triple-screen tests.

    • Main Results:

    • Ultrasound can identify anatomical characteristics in 11% to 35% of fetuses with chromosomal defects.
    • Specific ultrasound indicators for Down syndrome include brachycephaly, nuchal edema, and echogenic bowel.
    • Combined use of ultrasound and biochemical markers enhances Down syndrome screening sensitivity.

    Conclusions:

    • Detailed ultrasound evaluation is a valuable screening tool for fetal Down syndrome.
    • Specific ultrasound markers can aid in identifying fetuses at higher risk for trisomy 21.
    • Improved prenatal screening with ultrasound may lead to more accurate genetic counseling and fewer invasive tests.