The role of ultrasound in the diagnosis of fetal genetic syndromes

Shayna N. Conner, Ryan E. Longman, Alison G. Cahill

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


The use of ultrasound in the prenatal diagnosis of fetal genetic syndromes is rapidly evolving. Advancing technology and new research findings are aiding in the increased accuracy of ultrasound-based diagnosis in combination with other methods of non-invasive and invasive fetal testing. Ultrasound as a screening tool for aneuploidy and other anomalies is increasingly being used throughout pregnancy, beginning in the first trimester. Given the number of recorded syndromes, it is important to identify patterns and establish a strategy for identifying abnormalities on ultrasound. These syndromes encompass a wide range of causes from viral, substance-linked, chromosomal, and other genetic syndromes. Despite the ability of those experienced in ultrasound, it is important to note that not all fetal genetic syndromes can be identified prenatally, and even common syndromes often have no associated ultrasound findings. Here, we review the role of ultrasound in the diagnosis of fetal genetic syndromes.

Original languageEnglish
Pages (from-to)417-428
Number of pages12
JournalBest Practice and Research: Clinical Obstetrics and Gynaecology
Issue number3
StatePublished - Apr 2014


  • anomalies
  • genetic
  • syndrome
  • ultrasound


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