We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.
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机译：我们报道了左先天性diaphragm肌疝（CDH）和严重的宫内生长受限（IUGR）胎儿的环形染色体15的产前诊断。引荐了一名31岁妇女gravida 2 para 1，因为其在孕13周时的颈部半透明性增加。在第19周进行了全面的胎儿超声检查，发现IUGR发病较早，伴有肝疝的左CDH和鼻骨发育不良。三维超声（渲染模式）显示低沉的耳朵和凹陷的鼻梁。经过细胞遗传学研究后，对46，XX，r（15）名胎儿进行了羊膜穿刺术。在第36周出生了1,430μg的婴儿（不到三分位数）。婴儿出现呼吸衰竭，死于生命的2小时。脐带的产后核型证实了15环染色体的诊断。我们描述了与环形染色体15相关的主要产前2D和3D超声检查结果。报道本病例的兴趣在于CDH可与15环形染色体的诊断相关，因为正常normal肌发育的关键位置在染色体15q26.1-q26.2。
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