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Congenital diaphragmatic hernia and associated anomalies: their incidence, identification, and impact on prognosis
1Department of Surgery, Children's Hospital, Boston, MA 02115.
Insights
Congenital diaphragmatic hernia (CDH) is frequently associated with other anomalies, particularly cardiac defects. These associated anomalies significantly worsen prognosis in high-risk CDH infants, necessitating thorough diagnostic evaluation.
Area of Science:
- Pediatric Surgery
- Neonatology
- Medical Genetics
Background:
- Congenital diaphragmatic hernia (CDH) is a serious birth defect.
- The association of CDH with other anomalies is recognized.
- Identifying these associated anomalies (AA) is crucial for patient management.
Purpose of the Study:
- To assess the distribution of associated anomalies by organ system in high-risk CDH patients.
- To evaluate the impact of associated anomalies on prognosis.
- To identify clinical signs prompting a diagnostic search for associated anomalies.
Main Methods:
- Retrospective analysis of 166 high-risk CDH patients treated over a decade.
- Categorization of patients into isolated CDH, cardiac anomalies, and other anomalies.
- Comparison of clinical variables, laboratory data, and survival rates across groups.
Main Results:
- Over one-third (39.2%) of high-risk CDH patients had associated anomalies.
- Cardiac anomalies were the most frequent type of AA (63%), with hypoplastic heart syndrome being common.
- Patients with AA, especially cardiac, had lower APGAR scores and reduced best postductal PO2 (BPDPO2).
Conclusions:
- Associated anomalies are common in high-risk CDH and significantly impact outcomes.
- Cardiac anomalies are the predominant type of AA in CDH.
- A high index of suspicion and thorough diagnostic workup for AA, particularly cardiac, are essential in high-risk CDH infants.
Abstract:
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.(ABSTRACT TRUNCATED AT 250 WORDS)