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Related Experiment Videos

Genetic sonogram scoring index: accuracy and clinical utility.

B Bromley1, T Shipp, B R Benacerraf

  • 1Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, USA.

Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
|August 14, 1999
PubMed
Summary

The genetic sonogram scoring index identified 75% of Down syndrome fetuses in high-risk pregnancies. Combining this index with maternal age ≥40 improved detection rates to 75%, recommending amniocentesis for 26.7% of cases.

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Area of Science:

  • Prenatal diagnosis
  • Medical imaging
  • Genetics

Background:

  • Down syndrome (trisomy 21) is a common chromosomal abnormality.
  • Accurate prenatal detection is crucial for genetic counseling and management.
  • The genetic sonogram scoring index (GSSI) is a tool to assess fetal aneuploidy risk.

Purpose of the Study:

  • To evaluate the accuracy of the GSSI in detecting Down syndrome in a high-risk population.
  • To compare the GSSI's performance with and without maternal age consideration.
  • To determine the optimal threshold for recommending karyotype testing.

Main Methods:

  • Prospective evaluation of 1118 fetuses from women referred for genetic sonogram.
  • Application of the GSSI to assign a risk score to each fetus.

Related Experiment Videos

  • Karyotype determination for fetuses with a GSSI of 1 or greater.
  • Analysis of detection rates and false positive rates for Down syndrome.

    • Main Results:

    • A GSSI of 1 or greater identified 62.5% of Down syndrome fetuses (5/8), with a 14.6% false positive rate.
    • Including maternal age ≥40 increased Down syndrome detection to 75% (6/8), with a 26.3% false positive rate.
    • Three Down syndrome cases were missed by the GSSI alone, with one case missed when maternal age was considered.

    Conclusions:

    • The GSSI is a valuable tool for identifying fetuses with Down syndrome, detecting approximately 75% of affected cases.
    • Integrating maternal age with the GSSI enhances detection rates and optimizes the recommendation for invasive procedures like amniocentesis.
    • The GSSI, particularly when combined with maternal age, aids in risk stratification for Down syndrome in high-risk pregnancies.