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Down syndrome risk estimation after normal genetic sonography.

Anthony M Vintzileos1, Edwin R Guzman, John C Smulian

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Medicine and Dentistry of New Jersey--Robert Wood Johnson Medical School/St Peter's University Hospital, New Brunswick, NJ, USA.

American Journal of Obstetrics and Gynecology
|November 20, 2002
PubMed
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A normal genetic sonogram significantly reduces the risk of fetal Down syndrome by 83% to 89%, regardless of the initial indication for testing. This finding aids in counseling high-risk pregnancies.

Area of Science:

  • Prenatal diagnostics
  • Maternal-fetal medicine
  • Genetics

Background:

  • Down syndrome is a leading indication for prenatal genetic testing.
  • Genetic sonography is a non-invasive screening tool for fetal aneuploidies.
  • Risk assessment for Down syndrome often involves maternal age and biochemical markers.

Purpose of the Study:

  • To evaluate if risk reduction for fetal Down syndrome varies based on the indication for a normal genetic sonogram.
  • To quantify the effectiveness of a normal genetic sonogram in reducing Down syndrome risk across different risk groups.
  • To provide data for counseling pregnant women undergoing prenatal screening.

Main Methods:

  • Second-trimester genetic sonograms were offered to pregnant women at increased risk for Down syndrome (>/=1:274).

Related Experiment Videos

  • Indications included advanced maternal age (>/=35 years), abnormal triple screen, or both.
  • Outcomes were determined by genetic amniocentesis, pediatric assessment, and birth follow-up. Normal sonography excluded ultrasound aneuploidy markers.

    • Main Results:

    • The prevalence of Down syndrome decreased from 1.41% to 0.21% with a normal genetic sonogram.
    • A normal genetic sonogram provided a 6.64-fold risk reduction for Down syndrome.
    • Risk reduction ranged from 83% (advanced maternal age) to 89% (abnormal triple screen in younger women).

    Conclusions:

    • Normal genetic sonography consistently reduces Down syndrome risk across all indications.
    • The risk reduction is substantial, ranging from 83% to 89% regardless of the initial risk factor.
    • These findings support the use of genetic sonography in counseling high-risk pregnancies prior to amniocentesis.