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Related Experiment Videos

Isolated fetal pyelectasis and chromosomal abnormalities.

Claudio Coco1, Philippe Jeanty

  • 1Department of Ultrasound, Women's Health Alliance, Nashville, TN, USA. cl.coco@vodafone.it

American Journal of Obstetrics and Gynecology
|September 10, 2005
PubMed
Summary

Isolated pyelectasis, a common finding in prenatal ultrasounds, does not significantly increase the risk for trisomy 21. Therefore, isolated pyelectasis alone is not a reason to perform amniocentesis for Down syndrome screening.

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Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Genetics

Background:

  • Pyelectasis, characterized by an enlarged renal pelvis, is a frequent finding during second-trimester prenatal ultrasounds.
  • Its association with chromosomal abnormalities, particularly trisomy 21 (Down syndrome), requires careful evaluation.

Purpose of the Study:

  • To investigate whether isolated pyelectasis in fetal ultrasound is an independent risk factor for trisomy 21.
  • To assess the diagnostic performance of isolated pyelectasis in detecting trisomy 21.

Main Methods:

  • A retrospective analysis of 12,672 unselected singleton fetuses undergoing second-trimester ultrasound.
  • Calculation of sensitivity, specificity, positive and negative predictive values, and likelihood ratios for pyelectasis in detecting trisomy 21.

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Main Results:

  • Pyelectasis was detected in 2.9% of fetuses; 83.3% of these were isolated.
  • The prevalence of trisomy 21 was 0.087%. Among fetuses with trisomy 21, only 18.1% had pyelectasis.
  • Isolated pyelectasis demonstrated low sensitivity (9.09%) but high specificity (97.6%) for trisomy 21.

Conclusions:

  • Isolated pyelectasis, when found without other sonographic markers or structural anomalies, is not a significant predictor of trisomy 21.
  • Routine amniocentesis is not warranted based solely on the presence of isolated pyelectasis.