先天性膈疝(CDH)是由于膈肌的不完全形成导致腹部器官疝进入胸腔。CDH与肺发育不全有关,先天性心脏病,和肺动脉高压。基因上,它与非整倍性有关,染色体拷贝数变异,和单基因突变。CDH是最昂贵的非心脏先天性缺陷。管理经常需要实施体外膜氧合(ECMO),这增加了管理支出2.4-3.5倍。CDH的管理成本估计每年超过2.5亿美元。尽管住院生存率为80%-90%,当前管理不完善,存活儿童中有很大一部分存在长期功能缺陷。我们报告了一个早产儿产前诊断为CDH和先天性心脏病的病例,他在重症监护室经历了漫长而复杂的过程,接受了多种手术干预,包括心脏手术后的ECMO,用Nissen胃底折叠术放置胃造瘘管,气管造口术治疗呼吸衰竭,反复感染,和发育迟缓。快速全基因组测序(rWGS)确定了一个从头,可能致病,c.3096_3100delCAAAG(p。Lys1033Argfs*32)在ARID1B中的变体,提供Coffin-Siris综合征的诊断。她的父母选择了姑息治疗,当天晚些时候她去世了。
Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy-number variants, and single gene mutations. CDH is the most expensive noncardiac congenital defect. Management frequently requires implementation of extracorporeal membrane oxygenation (ECMO), which increases management expenditures 2.4-3.5-fold. The cost of management of CDH has been estimated to exceed $250 million per year. Despite in-hospital survival of 80%-90%, current management is imperfect, as a great proportion of surviving children have long-term functional deficits. We report the case of a premature infant prenatally diagnosed with CDH and congenital heart disease, who had a protracted and complicated course in the intensive care unit with multiple surgical interventions, including postcardiac surgery ECMO, gastrostomy tube placement with Nissen fundoplication, tracheostomy for respiratory failure, recurrent infections, and developmental delay. Rapid whole-genome sequencing (rWGS) identified a de novo, likely pathogenic, c.3096_ 3100delCAAAG (p.Lys1033Argfs*32) variant in ARID1B, providing a diagnosis of Coffin-Siris syndrome. Her parents elected palliative care and she died later that day.