Clinical considerations in gastroschisis: Incremental advances against a congenital anomaly with severe secondary effects

Nichol, Peter F.; Byrne, Janice L. B.; Dodgion, Christopher; Saijoh, Yukio

doi:10.1002/ajmg.c.30180

Cited by 15 publications

(14 citation statements)

References 87 publications

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“…Hunter and Stevenson [] proposed that the association may be a secondary vascular complication due to gut entrapment leading to clot formation and embolization, with subsequent muscle damage. Similarly, intestinal atresia has been suggested to occur in gastroschisis because of the vascular compromise from strangulation of the intestines as a result of the tight abdominal wall defect [Nichol et al, ]. However, these pathogenic hypotheses remain largely speculative.…”

Section: Introductionmentioning

confidence: 99%

Clinical presentation and survival in a population‐based cohort of infants with gastroschisis in Utah, 1997–2011

Feldkamp

Botto

Byrne

et al. 2015

American J of Med Genetics Pt A

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Typically gastroschisis is considered an isolated birth defect; however, other major malformations are reported to occur in 5-35% of cases depending on inclusion criteria. This study evaluated the associated malformations, small for gestational age, and survival among a clinically well-characterized population-based gastroschisis cohort, delivered from 1997-2011. We used data from Utah's statewide population-based surveillance system, which monitors major structural birth defects among all pregnancy outcomes (i.e., live births, stillbirths, pregnancy terminations, and miscarriages). Of the initial 387 gastroschisis cases, we excluded 51 (13.2%) for the following reasons: inadequately described or macerated fetuses, part of a specific malformation complex or sequence (limb-body wall complex, amniotic band sequence, or a severe form of abdominoschisis), leaving a study sample of 336 clinically confirmed cases. Gastroschisis was isolated non-syndromic in 284 cases (84.5%). One case was syndromic (trisomy 16; 0.3%) and the remaining 51 (15.2%) were classified as multiple: one unrelated major malformation (27; 52.9%); two or more unrelated major malformation or one major with multiple minor anomalies or mild malformations (6; 11.8%); ≥ one distinctive minor anomaly or mild malformation (13; 25.5%); amyoplasia (5; 1.5%). Of the liveborn infants, 63.3% were preterm (delivered at <37 weeks of gestation) and 21.8% were small for gestational age (SGA). SGA was more common in males (38.8%) than females (16%) (P = 0.008). Overall first year survival was high (95.6%); however, preterm infants with congenital intestinal atresia had the highest mortality (13.8%). The high proportion of isolated cases (84.5%) in gastroschisis is similar to that observed in many other phenotypes and not unique to gastroschisis. Because one in every six infants with gastroschisis had a major unrelated malformation, additional malformations should be sought in every newborn with gastroschisis. Infant mortality was low overall but still a significant concern in affected preterm infants with associated congenital intestinal atresia.

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Section: Introductionmentioning

confidence: 99%

Clinical presentation and survival in a population‐based cohort of infants with gastroschisis in Utah, 1997–2011

Feldkamp

Botto

Byrne

et al. 2015

American J of Med Genetics Pt A

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“…Several clinical papers [5][6][7][8] show that the prevalence of GS has increased signifi cantly in recent years throughout the world, i.e. by 67% in two years.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…The possibility of a genetic aetiology is always present, as children from the same mother can have this problem. The most frequently observed risk factor is teenage pregnancy [7][8][9][10] .A prenatal diagnosis can be performed by measuring the alpha-fetoprotein produced by the foetal gastrointestinal tract and liver as well as foetal ultrasonography, which is considered the gold standard for diagnosis. The problem is diagnosed in the fi rst routine ultrasound performed on the mother.…”

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confidence: 99%

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Characteristics of the clinical development of a newborn with gastroschisis in an intensive care unit in latin america

Redondo¹,

Feferbaum

Vieira

et al. 2016

J. Hum. Growth Dev.

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Introduction: Congenital malformations are major diseases observed at birth. They are the second most common cause of death in the neonatal population, the fi rst one being prematurity.Objective: To characterise the clinical outcome of newborns with gastroschisis (GS) in a neonatal intensive care unit. Methods:A retrospective observational clinical study in 50 infants with GS using the association of intestinal abnormalities, impossibility of primary closure of the abdominal defect and reoperation necessity as classifi cation criteria for the disease. The signifi cance level was p < 0.05. Results:The hospitalisation to primary surgery occurred with a median age of 2 hours. Fourteen percent of children were subjected to a primary silo interposition and 24% had associated intestinal malformation. Nineteen newborns (NB) required more than one surgery. The median length of stay was 33 days, higher in patients with complex GS (56 days). All NB recovered from urine output 48 hours after surgery and 40% had hyponatraemia and oligoanuria in this period. There was no difference between the natraemia and fasting time (p = 0.79). Weight gain was similar in both groups with total parenteral nutrition and became signifi cantly higher in patients with simple GS after enteral feeding (p = 0.0046). These NB evolved 2.4 times less cholestasis. Late-onset sepsis occurred in 58% of patients and was related to the infection of the central venous catheter in 37.9% of cases. Mortality was higher in infants infected with complex GS and the overall mortality rate was 14%. Conclusion:Clinical characterisation of newborns with gastroschisis depends on the complexity and the knowledge and conduct of morbidities to reduce mortality.Key words: gastroschisis, new-born, mortality, total parenteral nutrition, renal insuffi ciency, infection. INTRODUCTIONCongenital malformations are major diseases observed at birth. In the United States, a prevalence of about 3% 1 is cited. In Brazil, a study at the Fernandez Figueira Institute in Rio de Janeiro found that the prevalence was similar, i.e. 2.7% among live newborns (NB) and 6.7% among stillbirths. Among the causes of death, neonatal malformations are the second most common reason, the fi rst one being prematurity 2 .Gastroschisis (GS) is a congenital malformation of the abdominal wall that has increased in prevalence worldwide; its causes have not been fully elucidated 3 . In the 1960s, the prevalence of this disease was 1:50,000 live births. However, Kirby et al. 4 - -Characteristics of the clinical development of a newborn with gastroschisis in an intensive care unit in latin america J Hum Growth Dev. 2016; 26(2): 190-198 DOI: http://dx.doi.org/10.7322/jhgd.119266 temporal increase of 2.23 per 10,000 live births to 4.42 per 10,000 Regarding the defi nition of live births. The current prevalence in South America is 2.9:10,000 5 . This disease is characterised by a defect in abdominal wall closure with herniation of the intestines and other abdominal organs into the amniotic cavity. ...

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“…As human morphogenesis moves toward its ultimate synthesis of molecular explanation and prediction, insights from birth defect populations will complement those from malformed patients and prove essential to the distinction between polymorph and pathogen that complicates prognostic genetic testing. Here, we follow the approach of Martinez‐Frias [] to examine gastroschisis and omphalocele, significant contributors to pre‐ and postnatal mortality that inflict large public health costs despite surgical improvements [Henrich et al, ; Nichol et al, ; Islam, ; Ledbetter, ]. In gastroschisis, the gut herniates through the abdominal wall outside and almost always to the right of the umbilicus while in omphalocele it extrudes through the umbilicus as a persistent embryonic midgut hernia with a covering membrane derived from the amnion.…”

Section: Introductionmentioning

confidence: 99%

Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields

Wilson

2015

American J of Med Genetics Pt A

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Nine thousand two hundred eighty abnormalities associated with 2,943 abdominal wall defects (AWD) encoded from 1999 to 2008 by the Texas Birth Defects Registry (TBDR) were classified and analyzed for mechanism, beginning with 1,831 gastroschisis cases, 774 (41%) with 2,368 associated anomalies (AA) and 814 of omphalocele, 727 (89%) with 4,092 AA. Typical AA profiles for Trisomy 18 (23% of omphalocele cases) and Beckwith-Wiedemann syndrome (15%) validated registry AA descriptors, chromosome disorders surprisingly accounting for 24% of known conditions with gastroschisis followed by expected amniotic band (ADAM) complex (23%) and amyoplasia/arthrogryposis (16%). Separation of known diagnoses, fetal-stillbirth cases, and transitional or secondary AA left 330 cases of gastroschisis with 594 AA (452 major, 142 minor) and 295 cases of omphalocele with 956 AA (683 major, 273 minor). Anomalies suggestive of vascular origin (intestinal atresias, amyoplasia, bands) were more frequent with gastroschisis and those of defective lateral folding (exstrophies, limb-body wall defects) with omphalocele. Most AA favoring omphalocele had parallel frequencies with gastroschisis, whether by system/region-for example, cardiac AA (10% of cases), contractures (4.7%), limb (3.7%), CNS (3.2%) for gastroschisis versus cardiac (35%), contractures (14%), digestive-excretory-trunk-axial (all ∼11%), CNS (9.9%) for omphalocele-or for particular minor/major AA-for example, micrognathia (0.72% versus 3.3%), spina bifida (0.59% versus 3.9%), anal atresia (0.73% versus 6.4%), two-vessel cord (0.22% versus 5.6%). Similar frequencies of many AA reflective of early patterning support common AWD origin within early developmental fields and reinforce the use of large birth defect numbers from suitably qualified registries to define anomaly mechanism as well as prevalence.

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Clinical considerations in gastroschisis: Incremental advances against a congenital anomaly with severe secondary effects

Cited by 15 publications

References 87 publications

Clinical presentation and survival in a population‐based cohort of infants with gastroschisis in Utah, 1997–2011

Clinical presentation and survival in a population‐based cohort of infants with gastroschisis in Utah, 1997–2011

Characteristics of the clinical development of a newborn with gastroschisis in an intensive care unit in latin america

Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields

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