Gastroschisis

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

IGF1R, KIT, NOS2, LRP1, SF3B4, WNT3, DHCR7, NOS3, ADD1, AEBP1, GCG, GNB3, ACSS2, PLA2G15, AFP, TGFB3, TAPBP, SYP, SULT1A3, NPPA, AMBP, BMP1, MTHFR, F2, F5, ADRB2, ICAM1, HSPD1, HP, GOT2

IGF1R, KIT, NOS2, LRP1, SF3B4, WNT3, DHCR7, NOS3, ADD1, AEBP1, GCG, GNB3, ACSS2, PLA2G15, AFP, TGFB3, TAPBP, SYP, SULT1A3, NPPA, AMBP, BMP1, MTHFR, F2, F5, ADRB2, ICAM1, HSPD1, HP, GOT2, ACCS

Drugs

Apraglutide, Human glucagon-like peptide-2 analogue linked to a human immunoglobulin Fc fragment, Oxalobacter formigenes strain HC-1

Apraglutide, Human glucagon-like peptide-2 analogue linked to a human immunoglobulin Fc fragment, Oxalobacter formigenes strain HC-1, Teduglutide ( GATTEX, REVESTIVE )

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A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.

Epidemiology

In Europe, the average recorded prevalence of gastroschisis is 1/6,000 births with an increasing trend.

Clinical description

The disorder occurs around the tenth week of gestation, and results in bowel protruding, without a covering sac. If the defect is large enough, other viscera (stomach, bladder and gonads) might be exteriorized in some cases by the end of gestation. The liver always remains intra-abdominal. Intestinal damage, bowel atresia and even bowel perforation may occur as a result from the primary defect. When the hernia ring is tight or decreasing in size, necrosis or progressive ischemia of the protruding intestines may be observed, resulting in some cases with poorer prognosis. Intestinal lesions are linked to the quality of the mesenteric vascularization more than to the contact between intestinal loops and amniotic fluid. Other malformations are only exceptionally associated.

Etiology

Gastroschisis is believed to be a defect of the umbilical cord and ring, but the exact etiology remains unknown. Maternal age ( less than 20 years old) and maternal exposure to cigarette smoke could be risk factors. Genetic mutations and maternal genitourinary tract infections have been associated with an increased risk, but the exact pathological mechanisms remain elusive. Few familial cases have been reported.

Diagnostic methods

Diagnosis is usually made before birth during prenatal ultrasound (US) in the first trimester, allowing the birth to be arranged in a specialized unit where surgery can be performed immediately and intensive neonatal support is available.

Differential diagnosis

The only differential diagnosis is omphalocele which is more frequent, occurs earlier in embryonic development, and is associated in half of the cases with other malformations.

Antenatal diagnosis

Prenatal diagnosis is nowadays made in the first trimester, and relies on the picture of intestinal loops floating freely outside the abdominal cavity, to the right of the cord. Fetal karyotype is not mandatory. Later in gestation, the US scan focuses on fetal growth, amniotic fluid amount, thickness and diameter of both intra and extra abdominal loops.

Management and treatment

Gastroschisis is a surgical emergency. Primary abdominal closure is not always possible and different techniques of delayed management may be resorted to. Neonatal nutritional support is paramount. Early delivery is often proposed when intestinal complication is suspected.

Prognosis

Prognosis is linked to the functional quality of the intestinal loops, but is excellent in more than 90% of cases.