Postmortem Biopsy to Obtain Lung Tissue in Congenital Diaphragmatic Hernia

Abstract

Background: The accrual of human tissues from autopsies for diagnostic and translational research has decreased significantly over the last decades. Objectives: The objective of this study was to evaluate our experience with lung biopsy through a minithoracotomy as an alternative for obtaining postmortem tissue when full autopsy is refused in congenital diaphragmatic hernia (CDH) patients. Methods: Within 2 h of death we routinely asked parents for permission to perform an autopsy. Starting in 2001, parents who refused autopsy were asked permission for a postmortem lung biopsy. Pathology autopsy and biopsy reports were compared to clinical records. Results: Between 2001 and 2009, 46 patients died from CDH. Permission for autopsy was granted in 5 patients (11%). Of the remaining 41 patients, the parents of 15 (33%) agreed to postmortem lung biopsy. In all cases, additional findings were reported from the autopsy or biopsy, without changing the originally reported cause of death. In 1 case, we isolated fibroblasts from the lung biopsy using standardized cell culture techniques. Parents were able to take their child home with a minimal delay following biopsy. Conclusions: Parents refusing a full autopsy frequently agree to postmortem organ biopsy. This approach should therefore be considered as a valuable alternative, when permission for full autopsy is declined, for obtaining human tissues for both diagnostic and research purposes and is potentially applicable to other anomalies.

Preliminary study on the predictive value of the vasoactive-inotropic score for the prognosis of neonatal congenital diaphragmatic hernia

“…The incidence of CDH ranges from approximately 1/5000 to 1/2000 births [ 1 ]. Pulmonary hypoplasia and persistent pulmonary hypertension (PPHN) are the primary causes of death [ 1 – 4 ]. In addition to treating pulmonary hypertension, vasoactive drugs are regularly utilized to improve circulatory function in neonates with CDH because PPHN and PH can cause cardiac dysfunction [ 3 ].…”

Pathological Findings in Congenital Diaphragmatic Hernia on necropsy studies: A Single-Center Case Series

“…The pathogenesis of CDH is multifactorial and its epidemiology is poorly understood 9 . Cardiopulmonary pathophysiological processes in CDH patients are still ambiguous; in addition, the permissions of autopsy have continued to decrease in recent decades, and human tissue samples for translational and molecular studies of CDH are rarely available 10 . Postmortem investigation helps to identify the cause of death, as well as to explore the pathogenesis of the disease based on human.…”

Assessment of Carina Position Antenatally and Postnatally in Infants with Congenital Diaphragmatic Hernia

“…In infants with CDH, a defect in the diaphragm results in herniation of the abdominal contents into the chest and compression of the intrathoracic structures (3). Displacement of the heart and compression of the intrathoracic structures contribute to pulmonary and left ventricular (LV) hypoplasia and abnormal development of the pulmonary vasculature in utero (4–9). These abnormalities cause PPHN and respiratory insufficiency after birth (3,10,11).…”