Congenital diaphragmatic hernia: a retrospective study regarding the clinical experience of Bihor County Genetics Center

Abstract

Congenital diaphragmatic hernia is an abnormality of embryologic development characterized by the persistence of communication between the thoracic and abdominal cavities, followed by an extremely high death rate despite medical progress. In Bihor county, according to a retrospective analysis of patient records from the Regional Center of Genetics, 30 children were diagnosed with congenital diaphragmatic hernia over a span of 28 years, from 1990 to 2018, most being male (73.3%). Predominant were the complex congenital diaphragmatic cases, meaning the cases of diaphragmatic hernia associated with other congenital abnormalities, 67% (20 patients) presenting at least one other congenital malformation. 95% (19 cases) of patients with complex congenital diaphragmatic hernia presented pulmonary abnormalities, the most frequent being pulmonary hypoplasia; 35% (7 cases) presented cardiac abnormalities. The Apgar score at 5 minutes after birth was significantly lower for patients with the clinical form of complex congenital diaphragmatic hernia. The mortality for the patients presenting the complex form was 100%, and for the patients presenting the isolated form was 20%. Karyotype analysis was performed for 17 patients, and 23.53% of them (4 patients) presented chromosomal abnormalities.