The role of ultrasound in the diagnosis of fetal genetic syndromes

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

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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 (US)
Pages (from-to)417-428
Number of pages12
JournalBest Practice and Research: Clinical Obstetrics and Gynaecology
Volume28
Issue number3
DOIs
StatePublished - 2014
Externally publishedYes

Fingerprint

Aneuploidy
First Pregnancy Trimester
Prenatal Diagnosis
Technology
Pregnancy
Research

Keywords

  • anomalies
  • genetic
  • syndrome
  • ultrasound

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

The role of ultrasound in the diagnosis of fetal genetic syndromes. / Conner, Shayna N.; Longman, Ryan E; Cahill, Alison G.

In: Best Practice and Research: Clinical Obstetrics and Gynaecology, Vol. 28, No. 3, 2014, p. 417-428.

Research output: Contribution to journalArticle

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