CONGENITAL DIAPHRAGMATIC-HERNIA AND ASSOCIATED ANOMALIES - THEIR INCIDENCE, IDENTIFICATION, AND IMPACT ON PROGNOSIS

The general concept of the association of congenital diaphragmatic hernia (CDH) with other anomalies has been well described. This study is aimed at assessing the distribution of the associated anomalies (AA) by organ system, their influence on prognosis, and the practical signs that should prompt a diagnostic search. One hundred and sixty-six high-risk patients with CDH (symptomatic within the first 6 hours of life) were treated in this institution in the past decade. Sixty-five patients (39.2%) were found to have one or more AA, and 101 had isolated CDH. Of patients with anomalies, cardiac (excluding patent foramen ovale and patent ductus arteriosus) was the most frequent type of AA (63%). Hypoplastic heart syndrome was the most common defect. Many patients had multiple AA. For purposes of analysis, the patients were divided into three groups: isolated CDH, cardiac anomalies, and all other anomalies. The groups were compared with respect to several common clinical and laboratory variables, as well as survival. The frequency and timing of antenatal diagnosis were also noted. The analysis led to the following conclusions. (1) AA are present in more than one third of high-risk patients with CDH; in this group, cardiac lesions predominate. (2) High-risk CDH infants with AA have significantly lower APGAR scores and a lower BPDPo2 (best postductal Po2 before ECMO or surgery) than those with isolated CDH. This is even more evident in the group with cardiac AA. In such patients, a careful search for an undetected AA, especially cardiac, is warranted. (3) Antenatal diagnosis of CDH, especially before 25 weeks' gestation, is a risk factor for the presence of life-threatening AA (omphalocele, cardiac, central nervous system, and chromosomal AA). (4) High-risk CDH infants with cardiac AA are unsalvageable with current therapeutic strategies, including ECMO. Infants in this group must have the cardiac anomaly addressed along with the CDH if the abysmal survival rate (zero) is to change. © 1994.