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Prenatal Diagnosis of Abnormal Sternum Development and Dilated Aortic Root in a Fetus with a Novel 204 kb Microdeletion of the TGFRB2 Gene

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Open Journal of Obstetrics and Gynecology 2016年第10期6卷 601-605页

作者： Rebecca A. Feldman Justin S. Brandt Beverly Coleman Michael T. Mennuti Maternal and Child Health Research Program Department of Obstetrics and Gynecology Center for Research on Reproduction and Women’s Health University of Pennsylvania Perelman School of Medicine Philadelphia USA Rutgers-Robert Wood Johnson Medical School Department of OBGYN Maternal Fetal Medicine New Brunswick USA Department of Radiology Hospital of the University of Pennsylvania Philadelphia USA

The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.

关键词： Loeys-Dietz Syndrome connective tissue disorders Dilated Aortic Root TGFBR1 TGFBR2

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