Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

Abstract

Objectives

Noonan spectrum disorders (NSDs) occur in 1:1,000-2,500 live births. Currently, there are no guidelines for prenatal molecular genetic testing for NSDs. Recent studies recommend prenatal testing for NSDs when ultrasonography detects two or more associated abnormalities. A stronger association between ultrasound findings and NSDs would enable more informed prenatal genetic testing. This article is protected by copyright. All rights reserved.

Methods

212 newborns (0-12 weeks) with prenatal ultrasound findings and a clinical suspicion of a NSD were referred for molecular genetic testing. Of these, 159/212 newborns tested had a single ultrasound abnormality and 53/212 newborns had two or more. Testing was performed by either a microarray-based resequencing assay or next generation sequencing of RAS/MAPK pathway genes associated with NSDs. Prenatal ultrasound findings in positive and negative cases were compared.

Results

A disease-causing variant was identified in 21.7% (46/212) of newborns tested. Of these positive cases, 67.4% (31/46) had only one ultrasound abnormality reported. The rate of detecting a disease-causing variant in cases with one ultrasound finding was 19.5% (31/159), which was not significantly different (p-value =0.36) than that in cases with two or more ultrasound findings (28.3%; 15/53).

Conclusions

Prenatal molecular testing for NSDs should be considered even in the presence of a single associated abnormal ultrasound finding.

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