Pulmonary hypoplasia(PH) commonly occurs in association with oligohydramnios and other congenital anomalies, especially congenital diaphragmatic hernia (CDH). Pulmonary hypoplasia is an important factor, as persistent pulmonary hypertension, in the prognosis of CDH. In some reports, there is a decrement of pulmonary surfactant in PH accompanying CDH. Recently, there are some reports that exogen...

AIMS To examine short term and long term health related quality of life (HRQoL) of survivors of congenital anorectal malformations (ARM) and congenital diaphragmatic hernia (CDH), and to compare these patients' HRQoL with that of the general population. METHODS HRQoL was measured in 286 ARM patients and 111 CDH patients. All patients were administered a symptom checklist and a generic HRQoL m...

OBJECTIVE The aim of this study is to characterize medical and surgical therapies and short-term outcomes in infants with congenital diaphragmatic hernia (CDH). STUDY DESIGN Retrospective analysis of CDH infants admitted to 27 children's hospitals submitting data to Children's Hospital Neonatal Database (CHND) from 2010 to 2013, stratified by gestational age, birth weight, and survival. RES...

Congenital diaphragmatic hernia (CDH) is a common and severe birth defect. Despite its clinical significance, the genetic and developmental pathways underlying this disorder are incompletely understood. In this study, we report a catalog of variants detected by a whole exome sequencing study on 275 individuals with CDH. Predicted pathogenic variants in genes previously identified in either huma...

BACKGROUND Over the last two decades, the epidemiology, treatment strategy and mortality rate for congenital diaphragmatic hernia have changed. OBJECTIVES To retrospectively analyze our experience with CDH of the last 22 years. METHODS We reviewed the charts of all infants suffering from CDH between 1985 and 2007. Prenatal and maternal as well as perinatal and neonatal data were collected, ...

PURPOSE To evaluate the perinatal results for neonates with congenital diaphragmatic hernia diagnosed prenatally. METHOD We reviewed data from 38 cases of congenital diaphragmatic hernia diagnosed prenatally from January 1995 to December 2003 in the Fetal Medicine Unit of the Department of Obstetrics and Gynecology, São Paulo University Medical School. The main data analyzed were gestational ...

BACKGROUND Patients with congenital diaphragmatic hernia (CDH) may have abnormal lung development, which may cause detrimental effects on right ventricular (RV) function. This study aimed to determine if there are persistent echocardiographic differences in RV function in patients with CDH years after repair versus control patients. METHODS Patients who underwent repair for CDH were recruited...

Congenital diaphragmatic hernia (CDH) is a malformation leading to pulmonary hypoplasia, which can be treated in utero by fetal tracheal occlusion (TO). However, the changes of gene expression induced by TO remain largely unknown but could be used to further improve the clinically used prenatal treatment of this devastating malformation. Therefore, we aimed to investigate the pulmonary transcri...

The use of natriuretic peptides in the neonatal population is emerging. B-type Natriuretic Peptide (BNP) and N-terminal-Pro-BNP (NTpBNP) are used in the adult population to assess myocardial function and volume loading. Their role in prognosis following cardiac surgery has also been identified. In preterm infants NTpBNP is becoming increasingly recognised as a potential screening tool for paten...