The importance of prenatal 3‐dimensional sonography in a case of a segmental overgrowth syndrome with unclear chromosomal microarray results |
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| Authors: | Mehmet Resit Asoglu MD Amanda Higgs MGC CGC Sertac Esin MD Julie Kaplan MD Sifa Turan MD |
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| Affiliation: | 1. Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland School of Medicine, Baltimore, Maryland;2. Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland |
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| Abstract: | PIK3CA‐related overgrowth spectrum, caused by mosaic mutations in the PIK3CA gene, is associated with regional or generalized asymmetric overgrowth of the body or a body part in addition to other clinical findings. Three‐dimensional ultrasonography (3‐D US) has the capability to display structural abnormalities in soft tissues or other organs, thereby facilitating identification of segmental overgrowth lesions. We present a case suspected of having a segmental overgrowth disorder based on 3‐D US, whose chromosomal microarray result was abnormal, but apparently was not the cause of the majority of the fetus's clinical features. |
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| Keywords: | 3‐dimensional ultrasonography chromosomal microarray mosaic mutation PIK3CA‐related overgrowth spectrum |
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