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Related Experiment Videos

Chromosomal abnormalities associated with a single umbilical artery.

T Y Khong1, K George

  • 1Department of Pathology, Queen Victoria Hospital, Australia.

Prenatal Diagnosis
|November 1, 1992
PubMed
Summary

A single umbilical artery (SUA) is often linked to chromosomal abnormalities in pregnancies. However, SUA alone, without other detectable fetal defects, may not necessitate prenatal genetic testing.

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Area of Science:

  • Perinatology
  • Medical Genetics
  • Fetal Medicine

Background:

  • A single umbilical artery (SUA) is a rare umbilical cord anomaly.
  • SUA has been associated with an increased risk of fetal chromosomal abnormalities and congenital defects.

Purpose of the Study:

  • To investigate the association between SUA and cytogenetically abnormal pregnancies.
  • To determine if SUA alone is a sufficient indication for prenatal fetal karyotyping.

Main Methods:

  • Retrospective analysis of 117 cytogenetically abnormal pregnancies.
  • Identification of cases with SUA and detailed analysis of associated karyotypes and fetal anatomical defects.

Main Results:

  • Ten cases (8.5%) of SUA were identified in the study cohort.

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  • SUA was associated with trisomy 18, monosomy X, triploidy, 47,XYY, and a translocation.
  • All SUA cases, except one translocation, exhibited ultrasonographically detectable anatomical defects.

    • Conclusions:

    • While SUA can be associated with various chromosomal abnormalities, its presence alone may not warrant prenatal karyotyping.
    • The presence of additional ultrasonographically detectable anatomical defects alongside SUA is crucial for considering fetal karyotyping.