Gastroschisis In Babies: Symptoms, Diagnosis And Treatment

Causes are unknown in all cases and can be linked to genetic or environmental factors.

Medically reviewed by Dr. Shaon Mitra, MD Dr. Shaon Mitra Dr. Shaon MitraMD facebook_iconyoutube_icon Specialty: Pediatrics & NeonatologyExperience: 17 years
Written by Dr. Ritika Shah
Last Updated on

Gastroschisis in babies is a rare abdominal wall birth defect, which develops while the baby is in the mother’s womb. It causes the baby’s intestines to protrude from a hole in the abdomen. The hole is usually present on the right side of the belly button or the umbilical cord. In rare cases, other organs, such as the stomach or liver, might also protrude from the hole.

The word gastroschisis is a combination of two words — gastro, meaning related to the stomach, and schisis, a Greek word meaning separation (1). This post explains the symptoms, causes, diagnosis, management, and complications of gastroschisis in babies (2).

Signs And Symptoms Of Gastroschisis In Babies

The following sign and symptoms could occur in babies with gastroschisis (1) (3) (4) (5).

  • It manifests as a hole in the baby’s abdominal wall from which a part of the intestines protrudes out.
  • The hole is typically one to two inches wide in size.
  • In severe cases, the hole may be larger and vital organs, such as the stomach or liver, might also protrude from the hole.
  • The part of the intestines outside the baby’s body is not covered by a protective sac and is exposed to the amniotic fluid.
  • The intestines may be twisted, swollen, or shortened due to irritation from the amniotic fluid.
  • The intestines may be covered by a thick peel, giving them a leather-like appearance.
  • In some babies, the opening might tighten, leading to a reduction in the blood supply of the protruding organs (6).

Gastroschisis is a birth defect and present at birth. Prenatal ultrasound scans may be able to detect the condition, too, depending on its severity. Therefore, in many cases, the doctor could be aware of the condition before birth and may check the newborn immediately for the symptoms of the condition.

Causes Of Gastroschisis In Babies

The exact cause of gastroschisis is unknown. It may happen due to genetic reasons since it could occur in babies with a family history of the condition (7).  The following maternal factors during pregnancy may increase the fetus’ risk of developing gastroschisis (8).

  • Poor nutrition during pregnancy
  • Young maternal age
  • Exposure to tobacco, alcohol, cocaine, or methamphetamines
  • Nitrosamine exposure (a chemical found in some foods, cosmetics, and cigarettes)
  • Excess dosage of aspirin, ibuprofen, or acetaminophen
  • Use of decongestants that contain pseudoephedrine or phenylpropanolamine
  • History of genitourinary infections three months immediately before or after conception

Some of the aforementioned medicines may be prescribed by your doctor, but you must only have them in prescribed doses. Avoid OTC drugs during pregnancy without your healthcare provider’s consent.

Diagnosis Of Gastroschisis In Babies

Gastroschisis could be diagnosed during pregnancy or after birth. The following procedures and measures could help confirm the diagnosis of gastroschisis in babies (4) (7).

  • An increased alpha fetoprotein (AFP) level in the mother’s serum or amniotic fluid may indicate a probability of gastroschisis in the baby. The doctor may advise an ultrasound to confirm the diagnosis.
  • Gastroschisis can be seen on ultrasound as early as three months. However, it is most apparent in ultrasound scans between 18 and 20 weeks. The ultrasound shows loops of the bowel floating freely.
  • If the doctor suspects gastroschisis at 18-20 weeks, detailed scans and evaluations are done at 20-24 weeks.
  • Subsequent ultrasound scans could confirm the diagnosis since the condition may become apparent as the fetus grows older.

Gastroschisis is usually diagnosed by the time the baby is born in most cases. The condition is immediately apparent at birth due to the protrusion of the intestines from the abdominal wall.

Treatment For Gastroschisis In Babies

The treatment of gastroschisis depends on the health of the newborn and the severity of the gastroschisis. The following treatment options could be considered (6).

1. Primary repair

  • If the newborn’s health is good and a small part of the intestines is out, with moderate swelling, the surgeon will push the intestines back into the stomach and close the hole.
  • The pediatric surgeon will do this surgery on the same day of birth or soon.
  • About two-thirds of babies undergo this procedure.

2. Staged repair

  • If the baby’s health is unstable or a large or swollen section of the intestines is out, the baby may need surgery in several stages.
  • Staged repair of gastroschisis is done over the course of three to ten days after birth.
  • A silicone plastic pouch is placed over the baby’s exposed intestines and anchored to the surrounding muscles.
  • Each day, a small section of the intestines is pushed back into the abdomen. Once all of the intestines are inside, the pouch is removed, and the opening is closed.
  • During the treatment, the baby may need ventilator support with intravenous or nasogastric nutrition.

Prognosis Of Gastroschisis

The prognosis of the condition is good, and babies with gastroschisis have a survival rate of nearly 90%. Most babies with gastroschisis seldom develop complications and do not require long-term medical care (7).

Some babies with gastroschisis might be smaller in size than average and may take a little more time to catch up with peers developmentally. Long-term problems are rare and are usually related to feeding, bowel function, or infection (4).

Complications Of Gastroschisis In Babies

The following complications may occur in some babies with gastroschisis (5).

  • Short gut syndrome: It happens when the baby’s intestines develop injuries due to friction and contact with the amniotic fluid. The symptoms of short gut syndrome may include diarrhea, slow weight gain, vitamin deficiencies, and deficiencies of minerals. Babies with short gut syndrome might require a prolonged course of intravenous nutrition and other supplementation (6).
  • Feeding and digestion problems: Gastroschisis may lead to a blockage in the intestines. The blood supply could be affected, affecting digestion, too. It may also cause feeding difficulties in babies.
  • NEC and sepsis: Some babies with gastroschisis develop necrotizing enterocolitis (NEC). NEC occurs due to damage and subsequent necrosis (death) of the intestinal tissue. In some cases, the baby’s intestine may develop perforations. Intestinal waste and bacteria may ooze into the abdominal cavity, exacerbating NEC and increasing the risk of sepsis.

Babies with gastroschisis might be born prematurely or smaller than other babies due to slow growth in the womb. Complications may usually occur in babies with these conditions or babies who also have other birth defects and problems.

Frequently Asked Questions

1. How common is gastroschisis?

The Centers for Disease Control and Prevention (CDC) estimates that about 1 in every 1,953 babies are born with gastroschisis in the United States of America each year. However, several studies have concluded that gastroschisis has become more common (3).

2. What is the difference between gastroschisis and omphalocele?

Omphalocele is a birth defect similar to gastroschisis since it also causes the intestines or other abdominal organs to protrude out of a hole in the abdominal wall. However, unlike gastroschisis, the protruding organs in the omphalocele are covered by a thin membrane (8). Also, the hole in the omphalocele is in the midline or at the belly button, and the umbilical cord is at the center of the defect.

3. When are gastroschisis babies usually born?

Many children with gastroschisis are born prematurely at 35 weeks. However, others may be induced by 37 weeks because delivery after this week may have increased risks (9).

4. What anomaly is gastroschisis?

In most cases, gastroschisis is an isolated, non-syndromic anomaly. However, sometimes, infants may have some related anomalies, such as small intestinal atresia and intestinal malrotation. These anomalies may adversely affect the survival of children (10).

Gastroschisis in babies is a rare congenital disability. Most cases are diagnosed before birth during routine prenatal scans. The diagnosis is easy and can be easily done by physical examination immediately after birth. The treatment begins as soon as the diagnosis is made and the prognosis of the condition is good. However, you may need to be attentive to the baby’s health, weight gain, and achievement of developmental milestones. If you notice any discrepancies here, contact your healthcare provider promptly.

Key Pointers

  • Gastroschisis in children mostly occurs due to poor nutrition during pregnancy, exposure to tobacco, and excess dosage of aspirin.
  • Symptoms include hole in the abdominal wall and twisted or swollen intestines.
  • Treatment includes primary repair by the pediatric surgeon to push intestines back into the stomach and close the hole, and staged repair.

References

1. Gastroschisis; National Organization for Rare Disorders
2. Gastroschisis; The Global Gastroschisis Foundation
3. Facts about Gastroschisis; Centers for Disease Control and Prevention
4. Gastroschisis; Cincinnati Children’s Hospital Medical Center
5. Gastroschisis; March of Dimes
6. Gastroschisis; Children’s Hospital of Pittsburgh
7. What is gastroschisis and where to find gastroschisis treatment?; Children’s Minnesota
8. Gastroschisis; U.S. National Library of Medicine
9. Gastroschisis; NHS
10. Gastroschisis; CDC
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Dr. Shaon Mitra is a consultant pediatrician and neonatologist with 17 years of experience. She is attached to several hospitals in Kolkata, West Bengal, including Bellevue Clinic, ILS Hospitals Salt Lake, and Park View Superspeciality Hospital.

Read full bio of Dr. Shaon Mitra
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