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Second-trimester sonography and trisomy 18.

Richard Bronsteen1, Wesley Lee, Ivana M Vettraino

  • 1Division of Fetal Imaging, Department of Obstetrics and Gynecology, William Beaumont Hospital, Royal Oak, Michigan 48073, USA. rabronsteen@beaumont.edu

Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine
|March 3, 2004
PubMed
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Second-trimester sonography frequently detects structural anomalies in fetuses with trisomy 18, particularly brain, heart, and upper extremity abnormalities. Incomplete visualization can lead to missed diagnoses, emphasizing the need for a complete fetal anatomic survey.

Area of Science:

  • Prenatal Diagnosis
  • Medical Imaging
  • Genetics

Background:

  • Trisomy 18 (Edwards syndrome) is a severe chromosomal disorder.
  • Second-trimester sonography is a key tool for prenatal anomaly detection.
  • Identifying characteristic sonographic findings aids in early diagnosis.

Purpose of the Study:

  • To describe sonographic findings in fetuses with trisomy 18.
  • To determine the frequency of specific anomalies.
  • To evaluate cases with initially normal sonograms.

Main Methods:

  • Retrospective review of prenatal sonograms.
  • Analysis of 49 cases of confirmed trisomy 18.
  • Correlation of sonographic findings with diagnosis.

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Main Results:

  • Most fetuses (86%) showed multiple anomalies.
  • Brain (82%), heart (55%), and upper extremity (53%) anomalies were most common.
  • Choroid plexus cysts were frequent; larger cysts increased trisomy 18 likelihood.
  • 14% of cases had initially normal scans due to technical limitations.

Conclusions:

  • Structural anomalies in the brain, heart, and extremities are typical in trisomy 18.
  • Larger choroid plexus cysts are associated with trisomy 18.
  • Incomplete fetal visualization can mask anomalies; a complete anatomic survey is crucial for detection.