We report a case of a pregnant woman with a history of ascending arch replacement for aortic dissection who still had a residual descending aortic dissection. She underwent urgent genetic testing to identify hereditary aortic-related diseases that might be useful in perinatal management. A mutation in the myosin heavy chain gene (MYH11), indicating a high risk of aortic dissection but a low impact on other vascular systems and organs, was identified.
View Article and Find Full Text PDFA 33-year-old primiparous woman with progressive idiopathic juvenile osteoporosis (IJO) who had had multiple vertebral compressions and bilateral femoral neck fractures since the age of 15 years presented for perinatal management at 11 weeks of gestation. Her vertebral bone mass was 0.634 g/cm before pregnancy.
View Article and Find Full Text PDFAim: This study aimed to evaluate the clinical features and pregnancy outcomes of placental mesenchymal dysplasia (PMD) in Japan.
Methods: We requested detailed clinical information and placental tissue of PMD cases in 2000-2018 from Japanese facilities with departments of obstetrics and gynecology and analyzed the pregnancy course and neonatal outcomes.
Results: We collected 49 cases of PMD.
Case Rep Obstet Gynecol
August 2018
Congenital diaphragmatic hernia (CDH), a herniation of the abdominal contents through a defect or hypoplasia of the diaphragm, is a relatively common, severe congenital anomaly. Here we present the first case of two siblings with possibly isolated sac-type CDH and with a suspected genetic etiology. Although sibling recurrence of isolated CDH is rare, the incidence is higher than in the general population.
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