Department of Obstetrics and Gynecology, Mannheim University Hospital, Mannheim, Germany.
Am J Perinatol. 2011 Mar;28(3):211-8. doi: 10.1055/s-0030-1268235. Epub 2010 Oct 26.
Congenital diaphragmatic hernia (CDH) is a severe neonatal anomaly. The aim of this study was to evaluate the frequency and types of malformations associated with CDH. The outcome was compared with that in newborns with CDH alone. The study included 362 fetuses and newborns at a single national center for CDH. Associated malformations and chromosomal aberrations were noted prenatally and postnatally. The neonatal outcome was assessed relative to the use of extracorporeal membrane oxygenation (ECMO) and the mortality rate. At least one associated malformation was diagnosed in 143 cases (39.5%). Altogether, 272 associated malformations were found. Only 50 (18.4%) anomalies were diagnosed antenatally. In 62 (17.1%) cases, 102 major malformations were found along with CDH, with a prenatal detection rate of 35.3%. The associated malformations were very heterogeneous, but cardiovascular malformations were the most common. Newborns with major anomalies, chromosomal aberrations, or syndromes additional to CDH had a significantly lower survival rate than newborns with an isolated CDH. Associated malformations did not affect the rate of ECMO treatment. Associated malformations in CDH are frequent and heterogeneous, and diligent and experienced antenatal and postnatal care is important.
先天性膈疝 (CDH) 是一种严重的新生儿畸形。本研究旨在评估与 CDH 相关的畸形类型和频率。并将其结果与单纯 CDH 新生儿进行比较。该研究纳入了单中心的 362 例胎儿和新生儿。在产前和产后均记录了相关畸形和染色体异常。根据是否使用体外膜肺氧合 (ECMO) 和死亡率评估新生儿结局。在 143 例（39.5%）中诊断出至少一种相关畸形。总共发现了 272 种相关畸形。仅 50 例（18.4%）畸形在产前诊断。在 62 例（17.1%）中，除 CDH 外，还发现了 102 种主要畸形，产前检出率为 35.3%。相关畸形非常多样化，但心血管畸形最常见。伴有主要畸形、染色体异常或综合征的新生儿，其生存率明显低于单纯 CDH 新生儿。相关畸形不会影响 ECMO 治疗的发生率。CDH 相关畸形较为常见且多样化，因此产前和产后的精心检查和治疗非常重要。
