Congenital gastrointestinal anomalies in anorectal malformations: what relationship and management?

To date, no systematic review of gastrointestinal anomalies associated with anorectal malformations has been performed. We report the management of three challenging cases of neonates affected by congenital gastrointestinal and anorectal malformations and we review the pertinent published reports to disclose the incidence and outcome of this combination. In 3951 anorectal malformations, the incidence of digestive tract anomalies was approximately 15%.

Predictors and statistical models in congenital diaphragmatic hernia.

Despite advances in intensive care, congenital diaphragmatic hernia (CDH) maintains a risk of death >35%. Mortality predictors have been claimed, using logistic regression. When the outcome of interest is rare (i.

Congenital intestinal anomalies, neonatal short bowel syndrome, and prenatal/neonatal counseling.

Background: Short bowel syndrome (SBS) is a severe malabsorption caused by bowel loss. Congenital intestinal anomalies (CIA) detectable by prenatal ultrasound as jejunoileal atresia, meconium peritonitis, complicated meconium ileus, and fetal volvulus can be responsible for SBS.

Aims: This study aims to investigate either frequency of SBS or the morbidity in CIA population during the first admission.

Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

Background: Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature.

Birth weight and McGoon Index predict mortality in newborn infants with congenital diaphragmatic hernia.

Background: Despite improvements in clinical management, mortality of congenital diaphragmatic hernia (CDH) remains high. Early prediction of mortality risk helps in comparing strategies and/or performances of different centers. Birth weight (BW), Apgar Score at 5 minutes, and modified McGoon Index (MGI) calculated by the ratio between the diameters of pulmonary arteries and the descending aorta have been used to determine mortality of CDH.

Antenatal diagnosis of diaphragmatic hernia: parents' emotional and cognitive reactions.

Purpose: The aim of this study was to assess parent's emotional and cognitive reactions to the prenatal diagnosis of diaphragmatic hernia in their prospective children.

Methods: A survey was conducted by means of a questionnaire. In the period ranging from 1997 to 2002, 40 couples in whom an established diagnosis of diaphragmatic hernia was made in their fetus were seen for prenatal consultation at a tertiary referral center.