Vanishing Gastroschisis: The Importance of Prenatal Diagnosis in a Seemingly Normal Abdomen

Abstract

A newborn of 32 + 6 weeks' gestational age with prenatal diagnosis of gastroschisis was born through elective caesarean section. Ultrasonography at 16 + 4 gestational weeks (GW) showed a gastroschisis with free bowel loops floating in amniotic fluid. From 27 + 4 GW onward, serial ultrasounds showed the disappearance of extra-abdominal intestine and progressive intra-abdominal intestinal loops dilation, raising suspicion for vanishing gastroschisis. Birth weight was 2,136 grams and the external appearance of the abdomen was normal. An exploratory laparotomy was performed, finding a dilated proximal jejunal loop with a type III intestinal atresia, microcolon, and no other remainder bowel in between. The total length of the small intestine was 21 cm. Serial transverse enteroplasties for intestinal lengthening (reaching 38 cm), along with lateroterminal jejunocolic anastomosis were performed. The patient was discharged after 5 months of hospitalization with home parenteral nutrition. At 2 years and 8 months of age, the child is thriving and off parenteral support.

Vanishing gastroschisis is a rare and severe form of complex gastroschisis whose prenatal diagnosis is crucial for parental counseling, timely delivery, and early surgical intervention. Multidisciplinary approach is essential to manage intestinal failure and improve long-term outcomes in these patients.

 

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Keywords

vanishing gastroschisis - gastroschisis - intestinal failure - short bowel syndrome - serial transverse enteroplasty

Introduction

Vanishing gastroschisis is a rare condition in which the abdominal wall defect spontaneously closes in utero, leading to the loss of extra-abdominal bowel and typically resulting in intestinal atresia and short bowel syndrome (SBS).[1] Compared with other forms of complex gastroschisis, intra-abdominal bowel dilation tends to occur earlier during prenatal follow-up.[2] Early prenatal ultrasound signs that should raise suspicion for closing and vanishing gastroschisis include a small abdominal wall defect combined with absence of extra-abdominal bowel dilation.[3] [4] [5] Recognizing these subtle imaging clues is crucial for providing accurate prenatal counseling to parents, especially regarding the potential risk of intestinal failure and the long-term quality of life compromise of their child.[6] If not diagnosed prenatally, the abdominal wall may appear normal at birth, potentially delaying diagnosis and increasing the risk of preventable complications, such as bowel perforation.[7]

In cases of SBS, maximizing bowel preservation is critical due to the limited remaining length. Intestinal lengthening techniques, such as the serial transverse enteroplasties (STEP) procedure, are often employed to enhance bowel function.[8] [9] [10] We present a case of vanishing gastroschisis with secondary very short bowel managed with a primary STEP procedure.

 

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Case Report

A male infant with prenatal diagnosis of gastroschisis was born at 32 + 6 weeks' gestational age via elective caesarean section. At 16 + 4 weeks, ultrasonography revealed free bowel loops in amniotic fluid ([Fig. 1A]). Amniocentesis and fetal array were negative for genetic abnormalities. Ultrasound controls were performed without significant changes. However, ultrasound at 27 + 4 weeks showed the disappearance of extra-abdominal bowel and, in successive exams, progressive dilation of intra-abdominal loops with increased peristalsis was observed, suggesting a vanishing gastroschisis ([Fig. 1B]). Due to progressive intra-abdominal bowel dilation (up to 28 mm), early delivery was scheduled at 32 + 6 weeks to prevent intrauterine complications. The infant weighed 2,136 grams at birth and the abdomen looked normal ([Fig. 2]).

Fig. 1 (A) Ultrasound at 16 + 4 weeks of gestation showing free extra-abdominal intestinal loops, diagnostic of gastroschisis. *: extra-abdominal bowel loops. (B) Ultrasound at 32 + 3 weeks of gestation. No extra-abdominal intestinal loops are identified. Intra-abdominal loops are dilated up to 25 to 28 mm, greater than previous ultrasounds, with increased peristalsis. No ascites or hydrops signs were observed. Fetal Doppler and growth were normal. *: intestinal loops.

Fig. 2 Clinical exam at birth. Abdomen appearance was normal without any stigma of abdominal wall defect.

Abdominal X-ray displayed a dilated bowel with air–fluid levels and abdominal ultrasound showed a fixed thickened central bowel loop ([Fig. 3]). Exploratory laparotomy confirmed a dilated proximal jejunal loop with type IIIa intestinal atresia, absence of the remaining small bowel, and half colon and microcolon from transverse portion on ([Fig. 4]). Only 21 cm of small bowel remained, including the duodenum. STEP procedure was done, lengthening the intestine up to 38 cm, followed by a lateroterminal jejunocolic anastomosis.

Fig. 3 Abdominal X-ray with dilated bowel and air–fluid levels.

Fig. 4 Surgical findings: Type IIIa jejunal atresia, absence of the remaining small bowel, and microcolon.

Parenteral nutrition was initiated on day 2 and trophic feeding with maternal milk was started on day 11. Enteral volume was very gradually increased due to frequent vomiting and malabsorption. The infant remained in the neonatal intensive care unit for 63 days and was discharged at 5 months on home parenteral nutrition, which was gradually reduced over time.

He experienced multiple complications with his permanent tunneled central catheter, including rupture requiring repair and two replacements (one due to thrombosis causing malfunction and the other due to persistent symptomatic granuloma with cuff extrusion). He also had three central-line-associated bacteremias and cholestasis due to long-term parenteral nutrition. The central catheter was removed at 2 years and 6 months.

At 2 years and 8 months, he is properly thriving and off parenteral nutrition. He weighs 12 kg, eats normally supplemented with nutritional shakes, and passes three stools per day.

 

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Discussion

Vanishing gastroschisis is a rare but severe variant of gastroschisis associated with a high risk of morbidity.[1] It often entails SBS, with significant implications for nutrition, growth, and quality of life.[6] [7] Early prenatal detection is crucial and the hallmark clinical challenge is the often deceptively normal abdomen at birth, which may delay diagnosis.[4] [5] In cases without prenatal diagnosis, the infant will present with obstructive symptoms. In such scenario, performing a contrast enema may be very useful for the differential diagnosis (e.g., showing a microcolon in cases of intestinal atresia or meconium ileus, a change of caliber in Hirschsprung's disease, or a stop in the pass of contrast suggestive of colonic atresia, among others).[11]

Given the limited bowel length of our patient and the dilation due to the atresia, STEP procedure was performed at the time of the initial surgery. While STEP is typically reserved for the management of bowel dilation and adaptation over time, in selected cases like this, its early use can help increase absorptive surface area and slow transit, potentially improving enteral tolerance from the outset.[8] [10] [12]

Despite appropriate medical and nutritional management, the patient faced multiple complications associated with long-term central venous access, including catheter-related infections, thrombosis, granuloma, and cholestasis secondary to long-term parenteral nutrition.[13] [14] These are common complications in SBS patients and reflect the importance of multidisciplinary intestinal rehabilitation programs.[6] [9]

 

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Conclusion

This case underscores the importance of early prenatal recognition of vanishing gastroschisis findings, to enable proper prenatal diagnosis, parental counseling, and planning of the delivery at a specialized center. Primary bowel-lengthening techniques in cases of SBS associated with a very dilated bowel should be considered during initial repair. The successful weaning from parenteral nutrition in this case highlights the potential for intestinal adaptation, even in infants with ultrashort bowel length.

 

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Conflict of Interest

None declared.

• References

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Publikationsverlauf

Eingereicht: 11. April 2025

Angenommen: 23. Juli 2025

Artikel online veröffentlicht:
12. September 2025