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Review
. 2014 Apr;28(3):417-28.
doi: 10.1016/j.bpobgyn.2014.01.005. Epub 2014 Jan 28.

The role of ultrasound in the diagnosis of fetal genetic syndromes

Shayna N Conner  1 , Ryan E Longman  2 , Alison G Cahill  2
Affiliations
Review

The role of ultrasound in the diagnosis of fetal genetic syndromes

Shayna N Conner et al. Best Pract Res Clin Obstet Gynaecol. 2014 Apr.

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.

Keywords: anomalies; genetic; syndrome; ultrasound.

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Figures

Fig. 1
Fig. 1
Two-dimensional image of bilateral cleft lip.
Fig. 2
Fig. 2
Three-dimensional image of a unilateral cleft lip.
Fig. 3
Fig. 3
Ultrasound image of placentamegaly.
Fig. 4
Fig. 4
Ultrasound image of an echogenic intra-cardiac focus.
Fig. 5
Fig. 5
Ultrasound image of pyelectasis.
Fig. 6
Fig. 6
Ultrasound image of large septated cystic hygroma.
See this image and copyright information in PMC

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