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1.
Front Pediatr ; 6: 51, 2018.
Article in English | MEDLINE | ID: mdl-29594084

ABSTRACT

Antenatal Bartter's syndrome is a rare inherited disorder characterized by fetal polyhydramnios and polyuria that is usually detected between 24 and 30 weeks of gestation. However, a rare, severe, but transient form of antenatal Bartter's syndrome due to an x-linked melanoma-associated antigen D2 (MAGED2) mutation has recently been described. This transient type results in the earlier onset of severe polyhydramnios and preterm birth, but spontaneously resolves postnatally. Here, we present a case of a 29-week gestation male born to a mother with severe polyhydramnios, who was subsequently found to have a novel mutation for MAGED2 not previously reported. This is the first and only case not to be treated with indomethacin, yet still resulted in spontaneous resolution of symptoms. Our case suggests the need for awareness of and testing for this new mutation in cases of severe antenatal polyhydramnios and discusses the perinatal treatment of this condition.

2.
J Perinat Neonatal Nurs ; 21(1): 63-8, 2007.
Article in English | MEDLINE | ID: mdl-17301669

ABSTRACT

This article presents a case study of a newborn with gastroschisis, followed by a retrospective analysis of gastroschisis cases admitted in a single tertiary neonatal intensive care unit over a 5-year period in terms of maternal age, prenatal diagnosis, type of repair, length of stay, and complications. Gastroschisis is an abdominal wall defect resulting from ischemia to blood vessels that supply the abdominal wall during the first trimester of pregnancy. The injury results in an opening in the abdominal wall that allows the abdominal contents, most often intestines and stomach, to develop outside the abdominal cavity. The incidence of gastroschisis is rising, primarily in young mothers aged 20 years or younger. Environmental factors including medication use and nutrition are proposed mechanisms for this association. Surgical management includes techniques for primary repair in which the intestinal contents are immediately closed inside the abdomen, or staged repair if the abdominal cavity is not able to accommodate the volume of intestine. Exposure of the fetal intestine to amniotic fluid can cause inflammation and damage, and significant gastrointestinal problems occur during the neonatal period after closure of the defect. Complications include prolonged ileus, sepsis, associated intestinal atresias, malabsorption, wound infection, and necrotizing enterocolitis.


Subject(s)
Gastroschisis/epidemiology , Gastroschisis/therapy , Intensive Care, Neonatal/methods , Adolescent , Birth Weight , Female , Gastroschisis/complications , Gastroschisis/diagnosis , Gestational Age , Humans , Incidence , Infant, Newborn , Length of Stay/statistics & numerical data , Maternal Age , Neonatal Nursing/methods , Perioperative Care/methods , Perioperative Care/nursing , Pregnancy , Pregnancy in Adolescence/statistics & numerical data , Prenatal Diagnosis , Retrospective Studies , Risk Factors , Surgical Mesh
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