This document provides information on gastroschisis, a congenital abdominal wall defect. It discusses the following key points: 1. Gastroschisis is characterized by intestines protruding through an abdominal wall defect without a protective sac. It occurs in about 1 in 3,300 births and survival rates are over 90% with treatment. 2. Risk factors include young maternal age, primiparity, smoking, and illicit drug use. Associated issues include intestinal complications, sepsis, and long-term digestive problems. 3. Prenatal diagnosis is possible via ultrasound showing herniated bowel loops. Treatment involves surgical repair of the defect along with intensive neonatal care including antibiotics and nutritional support.

1. Gastroschisis
Contents
Synonyms and Related Disorders ................ 1193
Genetics/Basic Defects ............................ 1193
Clinical Features ................................... 1194
Diagnostic Investigations ......................... 1196
Genetic Counseling ................................ 1196
References .......................................... 1197
Gastroschisis (Greek for belly cleft) is a congen-
ital paraumbilical wall defect characterized by the
protrusion of the intestines uncovered by the peri-
toneum. It represents one of the most common
congenital malformations requiring multidis-
ciplinary neonatal intensive care, with an inci-
dence of approximately 1 in 3300 births that
seems to be increasing (Alvarez and Burd 2007).
Synonyms and Related Disorders
Anterior abdominal wall defects (Bladder
exstrophy; Cloacal exstrophy; Limb–body wall
and body-wall complex; Omphalocele)
Genetics/Basic Defects
1. Precise etiology unknown
2. Inheritance
1. Isolated occurrence in most cases (Calzolari
et al. 1995)
2. Rare autosomal dominant inheritance
3. Pathogenesis and risk factors Sharp
et al. (2000); Fillingham and Rankin 2008;
Lammer et al. 2008; Rasmussen and Frias
2008)
1. Pathogenesis
1. Most commonly quoted: Hoyme’s vas-
cular disruption theory with disruption
occurring in the omphalomesenteric
artery (Hoyme et al. 1983)
2. More recent proposed pathogenesis
1. Consequence of abnormal folding of
the body wall (Feldkamp et al. 2007).
2. Disruption of endothelial oxide
synthase pathway (its relationship to
vasculogenesis) by environmental
exposures or by genetic variation
may represent one pathogenetic
model for gastroschisis (Lammer
et al. 2008).
2. Risk factors (Torfs et al. 1994)
1. Vascular insult
1. Association of maternal smoking
and maternal cocaine use with an
increased incidence of gastroschisis
2. The association of intestinal atresia
and gastroschisis (Luck et al. 1985)
2. Premature atrophy or abnormal persis-
tence of the right umbilical vein
3. In utero rupture of a hernia of the
umbilical cord
# Springer Science+Business Media LLC 2017
H. Chen, Atlas of Genetic Diagnosis and Counseling,
DOI 10.1007/978-1-4939-2401-1_102
1193

2. 4. Young maternal age (<20 years of age)
(Baer et al. 2015): the most striking
epidemiological association with
gastroschisis (20–25%)
5. Primiparous mothers
6. Socially disadvantaged mothers
7. Use of vasoactive drugs (e.g., decon-
gestant pseudoephedrine) early in
pregnancy
8. Use of aspirin and decongestants
9. Recreational (illicit) drug use (particu-
larly the use of more than one drug)
10. Low socioeconomic status
11. Maternal nutrition
12. Living in close proximity to landfill
sites
13. Other novel risk factors
1. Prior history of gynecological infec-
tion/disease
2. Change of paternity
3. Paternal age
4. Rare syndrome association
1. Omphalocele-exstrophy-imperforate anus-
spinal defects (OEIS)
2. Amniotic band syndrome
3. Limb–body wall complex
5. Rare association with chromosome
abnormalities
1. Trisomy 21
2. Trisomy 13
Clinical Features
1. Herniation of abdominal contents
1. Through a small abdominal wall defect
1. Lateral to the insertion of the umbilical
cord
2. Most often to the right side of the umbil-
ical cord
2. Without covering sac
3. The herniated viscera floating freely in the
amniotic cavity
4. Rare extrusion of the liver
5. Dilatation of bowel loops due to partial
lymphatic and venous obstruction when
they are mechanically compressed against
the sidewall of the defect
6. Massive dilatation of the bowel secondary
to volvulus, atresia, and ischemia
2. The incidence of associated anomalies rela-
tively infrequent except associated gastrointes-
tinal anomalies (10–20%)
1. Intestinal stenosis/atresia, often related to:
1. Intrauterine volvulus
2. Strangulation of the blood supply to the
extruded segment of intestine at the
extremely tight abdominal wall defect
2. Adhesions
3. Malabsorption
4. Meckel diverticulum
5. Protein-losing enteropathy
6. Midgut volvulus
7. Necrosis
8. Severe short gut syndrome
9. Hypoperistalsis
3. Prognosis and complications
1. Oligohydramnios
1. Associated with a high incidence of
intrauterine growth retardation which
occurs in up to 60% of affected fetuses
2. Possible secondary effects of severe
oligohydramnios
1. Pulmonary hypoplasia
2. Limb compression
3. Cord compression
2. Polyhydramnios probably associated with
reduced bowel motility or bowel
obstruction
3. Fetal distress during labor
4. IUGR (Fries et al. 1993)
5. Small for gestational age (Chescheir
et al. 1991)
6. Prematurity
7. Sepsis
8. Bowel damage
9. Cardiac anomalies
10. Nongastrointestinal-associated anomalies
including occasional occurrence of
amyoplasia and arthrogryposis
11. Problems with absorptive and motility
functions
12. Intraoperative complications
1194 Gastroschisis

3. 13. Greater than 90% survival rate (Baerg
et al. 2003)
14. Higher mortality rate (50%) associated
with herniation of the liver
15. Rare reports of spontaneous resolution of
gastroschisis and closure of the anterior
abdominal wall defect (Tawil et al. 2001)
4. Intrauterine fetal death rate: 10–15%
(Brantberg et al. 2004)
5. Outcomes in neonates with gastroschisis in US
children’s hospitals (Lao et al. 2010)
1. Critical comorbidities and procedures
1. Cardiovascular defects (15%)
2. Pulmonary conditions (5%)
3. Intestinal atresia (11%)
4. Intestinal resection (12.5%)
5. Ostomy formation (8.3%)
2. Factors associated with mortality
1. Large bowel resection (odds ratio 8.26)
2. Congenital circulatory disease (odds
ratio 5.62)
3. Pulmonary disease (odds ratio 8.22)
4. Sepsis (odds ratio 3.87)
3. Factors associated with sepsis
1. Intestinal ostomy (odds ratio 2.94)
2. Respiratory failure (odds ratio 2.48)
3. Congenital circulatory anomalies (odds
ratio 1.58)
4. Necrotizing enterocolitis (odds ratio
4.38)
6. Differential diagnosis (Nichol et al. 2008)
1. Omphalocele
1. Characterized by its involvement of the
cord insertion and surrounding membrane.
2. The distinction is important given the
higher risk for chromosomal and other
anomalies in omphalocele.
3. The rare finding of a ruptured
omphalocele may be very difficult to
distinguish from a gastroschisis in utero
(Bair et al. 1986).
4. Characteristics of omphalocele
(Christison-Lagay et al. 2011)
1. Sac: present
2. Associated anomalies: common
3. Location of defect: umbilicus
4. Maternal age: average
5. Mode of delivery: cesarean/vaginal
6. Surgical management: not urgent
7. Prognostic factors: associated
anomalies
5. Characteristics of gastroschisis
(Christison-Lagay et al. 2011)
1. Sac: absent
2. Associated anomalies: uncommon
3. Location of defect: right of the
umbilicus
4. Maternal age: younger
5. Mode of delivery: vaginal
6. Surgical management: urgent
7. Prognostic factors: condition of the
bowel
2. Limb–body wall and body-wall complex
1. Both may involve defects of the ventral
body wall, often large and asymmetric,
and often involving multiple organs
including the liver.
2. The lack of a free-floating umbilical cord
and scoliosis, with or without limb
defects, will suggest this diagnosis.
3. Amniotic band syndrome
1. Amniotic band syndrome is often diffi-
cult to distinguish from body-wall
complex.
2. Frequently, will also involve severe
anomalies of the craniofacial area.
3. Like limb–body wall complex, may
involve adhesion to the placenta.
4. Bladder exstrophy (Glasser 2015; Khan
2015)
1. May present as an external, well-defined,
solid or complex mass immediately
superior to the fetal genitalia
sonographically
2. Prolonged and repeated scans fail to
reveal the fetal bladder.
3. The renal collecting system and ureters
need not be dilated and unilateral or
horseshoe kidneys may be found.
4. Uterine and adnexal anomalies are rela-
tively frequent.
5. The pubis is abnormally wide.
6. Umbilical cord insertion may be
abnormal.
Clinical Features 1195

4. 5. Cloacal exstrophy (Glasser 2015; Khan
2015)
1. Consists of a low omphalocele, bladder
or cloacal exstrophy, and, frequently,
other caudal anomalies, including
meningomyelocele anal atresia and
lower limb anomalies
2. A single umbilical artery in most
affected fetuses
3. Sonographic findings include a low ante-
rior abdominal mass below the umbilical
cord that is associated with an absent
urinary bladder.
Diagnostic Investigations
1. Routine blood work
2. Chromosome analysis rarely indicated (inci-
dence of chromosomal anomalies <5%)
3. Abdominal radiography
4. Abdominal ultrasound
5. Gastrointestinal investigations to rule out gas-
troesophageal reflux, abnormal intestinal
absorption and motility, and Hirschsprung
disease
6. Echocardiography
Genetic Counseling
1. Recurrence risk
1. Patient’s sib: The sibling recurrence risk is
estimated to be 3.5% (familial occurrence of
gastroschisis has been reported) (Torfs and
Curry 1993) unless a parent is affected with
an autosomal dominant disorder.
2. Patient’s offspring: The offspring recur-
rence risk is not increased unless the patient
is affected with an autosomal dominant
disorder.
2. Prenatal diagnosis
1. Elevated maternal serum alpha-fetoprotein
(MSAFP): MSAFP levels are greater in
gastroschisis than in omphalocele
(Palomski et al. 1988)
2. Prenatal ultrasonography
1. 2D ultrasonography followed by 3D
ultrasonography can be useful for more-
efficient counseling and postnatal thera-
peutic planning (Bonilla-Musoles
et al. 2001)
2. Demonstration of a mass adjacent to the
anterior ventral wall representing the
herniated viscera
3. Herniation almost always exits through
the right rather than the left lower
quadrant.
4. Cord vessels observed to the left of the
exiting bowel
5. Dilated bowel loops within or outside the
abdomen observed when the abdominal
wall defect is small
6. Possible evisceration of stomach
7. Possible evisceration of the urinary blad-
der with secondary hydronephrosis
8. Polyhydramnios associated with bowel
obstruction
9. Gastroschisis can be prenatally diag-
nosed at 1st trimester (Cerekja
et al. 2012)
3. Amniocentesis
1. Elevated amniotic fluid alpha-
fetoprotein
2. Positive acetylcholinesterase in
gastroschisis but not omphalocele
(Saleh et al. 1993)
3. Chromosome analysis
3. Management (Langer et al. 1987)
1. Counseling of parents (Hunter and
Soothill 2002)
1. Inform 5–10% incidence of fetal or
neonatal death
2. Inform long-term digestion problems
associated with short gut syndrome
2. No clear evidence indicating early cesar-
ean section improves the outcome (Kirk
and Wah 1983; Stringer et al. 1994; Segel
et al. 2001)
3. Requires multidisciplinary NICU care
(Mills et al. 2010)
1. Despite a high probability of survival
(long-term survival rate over 85%)
(Weber et al. 2002), gastroschisis
babies and their families face a
1196 Gastroschisis

5. prolonged hospitalization with the
potential for significant long-term mor-
bidity, especially that related to
impaired capacity for enteral nutrition
leading to cholestatic liver disease
2. Potential need for organ transplantation
4. Endotracheal intubation for respiratory
distress in neonates
5. Avoid hypothermia, hypovolemia, and
sepsis
6. Fluid and electrolyte balance to prevent
metabolic acidosis commonly observed
as a result of poor perfusion related to
hypovolemia
7. Insertion of an orogastric tube
1. To prevent air swallowing
2. To aspirate intestinal contents
8. Parenteral antibiotics
9. Surgical repair: primary repair versus
staged repair with silastic silo
10. Total parenteral nutritional support for
prolonged adynamic ileus (Baerg
et al. 2003)
11. Potential need for organ transplantation
(Mian et al. 2008)
12. Risks of prematurity must be weighed
against the potential advantages of pre-
term delivery for infants with gastroschisis
(Langer et al. 1993)
13. Early delivery is associated with
prolonged enteral feeds/length of hospital
stay, suggesting elective delivery at
<37 weeks is not beneficial (Carnaghan
et al. 2014).
14. Prenatal repair of gastroschisis (Luo
et al. 2015)
1. The ex utero intrapartum treatment pro-
cedure: performed to ensure fetal oxy-
gen supply, which was likely to be
compromised by the deep fetal
anesthesia.
2. The gastroschisis can be successfully
repaired before the neonate is
delivered.
3. Maternal hemodynamics can be kept
stable during this surgical procedure.
4. The prenatal repair of abdominal wall
defect is safe for the mother and the
fetus, which could potentially improve
the neonatal outcomes.
References
Alvarez, S. M., & Burd, R. S. (2007). Increasing preva-
lence of gastroschisis repairs in the United States
1996–2003. Journal of Pediatric Surgery,
42, 943–946.
Baer, R. J., Chambers, C. D., Jones, K. L., et al. (2015).
Maternal factors associated with the occurrence of
gastroschisis. American Journal of Medical Genetics
Part A, 167A, 1534–1541.
Baerg, J., Kaban, G., Tomita, J., et al. (2003).
Gastroschisis: A sixteen year review. Journal of Pedi-
atric Surgery, 38, 771–774.
Bair, J. H., Russ, P. D., Pretorius, D. H., et al. (1986). Fetal
omphalocele and gastroschisis: A review of 24 cases.
American Journal of Roentgenology, 147, 1047–1051.
Bonilla-Musoles, F., Machado, L. E., Bailao, L. A.,
et al. (2001). Abdominal wall defects: Two- versus
three-dimensional ultrasonographic diagnosis. Journal
of Ultrasound in Medicine, 20, 379–389.
Brantberg, A., Blaas, H. G., Salvesen, K. A., et al. (2004).
Surveillance and outcome of fetuses with gastroschisis.
Ultrasound in Obstetrics & Gynecology, 23, 4–13.
Calzolari, E., Volpato, S., Bianchi, F., et al. (1993).
Omphalocele and gastroschisis: A collaborative study
of the Italian congenital malformation registries. Tera-
tology, 47, 47–55.
Calzolari, C. F., Dolk, B. H., & Milan, M. (1995).
EUOCAT Working Group: Omphalocoele and
gastroschisis in Europe: A survey of 3 million births
1980–1990. American Journal of Medical Genetics,
58, 187–194.
Carnaghan, H., Pereira, S., James, C. P., et al. (2014). Is
early delivery beneficial in gastroschisis? Journal of
Pediatric Surgery, 49, 928–933.
Cerekja, A., Piazze, J., & Cozzi, D. (2012). Early prenatal
sonographic diagnosis of gastroschisis. Journal of
Clinical Ultrasound, 40, 526–528.
Chescheir, N. C., Azizkhan, R. G., Seeds, J. W.,
et al. (1991). Counseling and care for the pregnancy
complicated by gastroschisis. American Journal of
Perinatology, 8, 323–329.
Christison-Lagay, E. R., Kelleher, C. M., & Langer, J. C.
(2011). Neonatal abdominal wall defects. Seminars in
Fetal & Neonatal Medicine, 16, 164–172.
Feldkamp, M. L., Carey, J. C., & Sadler, T. W. (2007).
Development of gastroschisis: Review of hypotheses,
a novel hypothesis, and implications for research.
American Journal of Medical Genetics Part A,
143A, 639–652.
Fillingham, A., & Rankin, J. (2008). Prevalence, prenatal
diagnosis and survival of gastroschisis. Prenatal Diag-
nosis, 28, 1232–1237.
References 1197

6. Fries, M. H., Filly, R. A., Callen, P. W., et al. (1993). Growth
retardation in prenatally diagnosed cases of gastroschisis.
Journal of Ultrasound in Medicine, 12, 583–588.
Glasser, J. G. (2015). Omphalocele and gastroschisis.
eMedicine from WebMD. Updated April 28, 2015.
Available from http://emedicine.medscape.com/arti
cle/975583-overview
Hoyme, H. E., Jones, M. C., & Jones, K. L. (1983).
Gastroschisis: Abdominal wall disruption secondary
to early gestational interruption of the omphalome-
senteric artery. Seminars in Perinatology, 7, 294–298.
Hunter, A., & Soothill, P. (2002). Gastroschisis-an over-
view. Prenatal Diagnosis, 22, 869–873.
Khan, A. N. (2015). Gastroschisis. eMedicine from
WebMD. Updated September 25, 2015. Available
from http://emedicine.medscape.com/article/403800-
overview
Kirk, E. P., & Wah, R. M. (1983). Obstetric management of
the fetus with omphalocele or Gastroschisis: A review
and report of one hundred twelve cases. American
Journal of Obstetrics and Gynecology, 146, 512–518.
Lammer, E. J., Iovannisci, D. M., Tom, L., et al. (2008).
Gastroschisis: A gene-environment model involving
the VEGF-NOS3 pathway. American Journal of Med-
icine Genetics Part C, 148C, 213–218.
Langer, J. C., Harrison, M. R., Adzick, N. S., et al. (1987).
Perinatal management of the fetus with an abdominal
wall defect. Fetal Therapy, 2, 216–221.
Langer, J. C., Khanna, J., Caco, C., et al. (1993). Prenatal
diagnosis of gastroschisis: Development of objective
sonographic criteria for predicting outcome. Obstetrics
and Gynecology, 81, 53–56.
Lao, O. B., Larison, C., Garrison, M. M., et al. (2010). Out-
comes in neonates with gastroschisis in U.S. children’s
hospitals. American Journal of Perinatology, 27, 97–101.
Luck, S. R., Sherman, J. O., Raffensperger, J. G.,
et al. (1985). Gastroschisis in 106 consecutive newborn
infants. Surgery, 98, 677–683.
Luo, D., Wu, L., Wu, H., et al. (2015). Anesthetic manage-
ment of a neonate receiving prenatal repair of
gastroschisis. International Journal of Clinical and
Experimental Medicine, 8, 8234–8237.
Mian, S. I., Dutta, S., Le, B., et al. (2008). Factors affecting
survival to intestinal transplantation in the very young
pediatric patient. Transplantation, 85, 1287–1289.
Mills, J. A., Lin, Y., MacNab, Y. C., et al. (2010). Perinatal
predictors of outcome in gastroschisis. Journal of Peri-
natology, 30, 809–813.
Nichol, P. F., Byrne, J. L. B. E., Dodgion, C., et al. (2008).
Clinical considerations in gastroschisis: incremental
advances against a congenital anomaly with severe
secondary effects. American Journal of Medical Genet-
ics Part C, 148C, 231–240.
Palomski, G. E., Hill, L. E., & Knight, G. J. (1988).
Second-trimester maternal serum alpha-fetoprotein
levels in pregnancies associated with gastroschisis and
omphalocele. Obstetrics and Gynecology, 71, 906.
Rasmussen, S. A., & Frias, J. L. (2008). Non-genetic risk
factors for gastroschisis. American Journal of Medicine
Genetics Part C, 148C, 199–212.
Saleh, A. A., Isada, N. B., Johnson, M. P., et al. (1993).
Amniotic fluid acetylcholinesterase is found in
gastroschisis but not omphalocele. Fetal Diagnosis
and Therapy, 8(3), 168–170.
Segel, S. Y., Marder, S. J., Parry, S., et al. (2001). Fetal
abdominal wall defects and mode of delivery: A
systematic review. Obstetrics and Gynecology,
98, 867–873.
Sharp, M., Bulsara, M., Gollow, I., et al. (2000).
Gastroschisis: Early enteral feeds may improve
outcome. Journal of Paediatrics and Child Health,
36, 472–476.
Stringer, M. D., Adzick, N. S., & Harrison, M. R. (1994).
Mode of delivery and outcome of neonates with
gastroschisis. American Journal of Obstetrics and
Gynecology, 171, 869.
Tawil, A., Comstock, C. H., & Chang, C. C. (2001).
Prenatal closure of abdominal defect in gastroschisis:
Case report and review of the literature. Pediatric and
Developmental Pathology, 4, 580–584.
Torfs, C. P., & Curry, C. J. (1993). Familial cases of
gastroschisis in a population-based registry. American
Journal of Medical Genetics, 45, 465–467.
Torfs, C. P., Velie, E. M., Oechsli, F. W., et al. (1994). A
population-based study of gastroschisis demographic,
pregnancy, and lifestyle risk factors. Teratology,
50, 44–53.
Weber, T. R., Au-Fliegner, M., Downard, C. D.,
et al. (2002). Abdominal wall defects. Current Opinion
in Pediatrics, 14, 491–497.
1198 Gastroschisis

7. Fig. 1 A premature neonate had herniation of gastric
antrum, small intestine, and colon through the gastroschisis,
right of intact umbilicus. There was malrotation of the
intestine
Fig. 2 A stillborn with
gastroschisis showing
herniation of abdominal
contents
References 1199