Prenatal diagnosis and integrated perinatal management of isolated type I membranous jejunal atresia: a case description

Introduction

Fetal intestinal obstruction is a common congenital gastrointestinal malformation in neonates, with an estimated live birth incidence of 1 in 2,000 to 1 in 5,000 (1). Prenatal diagnosis primarily relies on ultrasonography, supplemented by magnetic resonance imaging (MRI) and radiography. Early postnatal surgical intervention combined with standardized perioperative care yields an overall survival rate of over 90% for isolated lesions (2). Jejunal atresia is the most common pathological type of fetal small bowel obstruction. In the present case, isolated type I jejunal atresia was confirmed via prenatal imaging and postnatal surgical findings. Intrauterine vascular accidents, rather than genetic aberrations, have traditionally been considered the predominant cause of jejunal atresia; however, sporadic chromosomal abnormalities have been reported in isolated cases (3). Therefore, prenatal genetic testing was performed to exclude chromosomal anomalies, thereby supporting comprehensive prenatal risk assessment and individualized perinatal management.

Conventional two-dimensional (2D) ultrasonography has long been the primary screening method for fetal intestinal obstruction; however, most existing studies lack standardized technical specifications and comprehensive integrated perinatal management protocols for type I jejunal atresia. In the present case, the definitive diagnosis was established using standard 2D grayscale ultrasonography combined with real-time dynamic scanning, without the use of three-dimensional/four-dimensional (3D/4D) reconstruction or advanced silhouette rendering software. Notably, this study highlights the necessity of routine prenatal genetic screening for vascular-origin jejunal atresia and summarizes the standardized multidisciplinary workflow for isolated type I jejunal atresia, providing supplementary clinical evidence to support standardized diagnosis and management of similar cases. This report comprehensively analyzes the prenatal imaging features, genetic evaluation, postnatal surgical treatment, perioperative management, and prognosis of a patient with fetal small bowel obstruction case caused by type I jejunal atresia. Notably, the secondary polyhydramnios observed in this case resulted from mechanical gastrointestinal obstruction blocking amniotic fluid excretion rather than intestinal malabsorption. This study aims to provide practical insights into the standardized clinical management of isolated fetal jejunal atresia.

Case presentation

A 27-year-old pregnant woman, gravida 2, para 1, with blood group B and Rh-negative blood type, at 26+ weeks of gestation, was admitted to the Prenatal Diagnosis Center of Gansu Provincial Maternity and Child-care Hospital for further consultation due to fetal abdominal abnormalities detected by ultrasonography at an outside hospital. The prenatal ultrasound examination at our center was performed using conventional 2D grayscale ultrasonography and real-time dynamic continuous scanning technology. All ultrasound examinations were performed by senior prenatal ultrasound physicians using standardized abdominal probe scanning parameters, without the use of 3D/4D reconstruction technology or advanced silhouette rendering software. The prenatal ultrasound examination at our center revealed a gastric bubble and the entire duodenum on the transverse plane of the upper fetal abdomen. Continuous dynamic scanning identified a saccular blind end at the distal part of the intestinal canal, highly suggestive of small intestinal atresia or stenosis (Figure 1A). The amniotic fluid index (AFI) was 15.04 cm. One month later, a repeat ultrasound at an outside hospital revealed dilatation and fluid accumulation involving the entire duodenum and upper jejunum, with a maximum diameter of approximately 15.9 mm, consistent with a diagnosis of fetal intestinal obstruction (Figure 1B). The AFI had increased to 16.5 cm.

Figure 1 Prenatal ultrasound images of the fetus. (A) The gastric bubble and the entire duodenum were visualized; a blind end was observed at the distal bowel on dynamic scanning. (B) Diffuse dilatation of the entire duodenum and the upper jejunum was noted.

Subsequently, amniocentesis was performed at the Prenatal Diagnosis Center of our hospital, and chromosomal microarray analysis (CMA) revealed no pathogenic microdeletions or microduplications in the fetus. The Neonatal Surgery Department was consulted in advance to establish a postnatal treatment plan. A male infant was delivered by elective cesarean section at 38 weeks of gestation, with a birth weight of 3,050 g, and Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. The neonate failed to pass meconium spontaneously after birth; thus, a nasogastric tube was inserted for continuous gastrointestinal decompression. Abdominal plain radiography demonstrated gaseous distention of the intestinal loops, confirming the diagnosis of congenital gastrointestinal atresia (Figure 2A).

Figure 2 Postnatal radiographic, intraoperative, and postoperative images of the infant. (A) Postnatal abdominal plain radiography showed gaseous distension of the intestinal loops. (B) Marked dilatation of the proximal jejunum was observed intraoperatively.

After a multidisciplinary preoperative consultation, congenital intestinal atresia plasty was performed on the third postnatal day. Intraoperative exploration revealed marked dilatation of the proximal jejunum (located approximately 20 cm distal to the ligament of Treitz) with a maximum diameter of 3.0 cm, while the distal jejunum was severely stenosed, measuring only 0.5 cm in diameter. A fibrous diaphragm was found at the junction of the dilated and stenosed intestinal segments, and was pathologically confirmed as type I jejunal atresia. The obstructing diaphragm was completely resected, followed by end-to-end intestinal anastomosis (Figure 2B). Postoperatively, the infant passed meconium smoothly, and remained in good clinical condition at follow-up.

All the procedures in this study were performed in accordance with the Declaration of Helsinki and its subsequent amendments. The study was approved by the Ethics Committee of Gansu Provincial Maternity and Child-care Hospital. Written informed consent was obtained from the infant’s legal guardians for the publication of this article and the accompanying images. A copy of the written consent form is available for review by the editorial office of this journal.

Discussion

As a common congenital gastrointestinal malformation in neonatal surgery, fetal intestinal obstruction is mainly caused by abnormal intestinal development, ischemia, or lumen occlusion during embryogenesis, leading to the impaired passage of intestinal contents (4). Without timely and accurate prenatal diagnosis and standardized postnatal intervention, this condition can easily result in severe complications, including neonatal intestinal perforation, peritonitis and septic shock, which can be life-threatening. In the present case, standardized prenatal imaging screening and chromosomal genetic evaluation were performed, followed by prompt postnatal surgical intervention and comprehensive perioperative management, resulting in a favorable prognosis for the infant.

Accurate prenatal diagnosis is a critical prerequisite for the comprehensive management of fetal intestinal obstruction. Due to its non-invasiveness, capacity for dynamic monitoring, and high reproducibility, ultrasonography is the preferred and most valuable screening modality for this condition and has become the first-line approach in obstetric prenatal screening (5). Consistent with the examination method adopted in this case, routine prenatal diagnosis of fetal intestinal obstruction mainly relies on standard 2D ultrasonography and real-time dynamic scanning, which enable clear visualization of intestinal dilatation, blind-end changes, and secondary amniotic fluid changes. No auxiliary 3D/4D reconstruction or advanced image rendering technology was used in this case, reflecting the conventional clinical approach to prenatal diagnosis.

In the present case, the initial ultrasound examination at 26+ weeks of gestation revealed clear visualization of the fetal gastric bubble and entire duodenum, with a saccular blind end at the distal bowel. Follow-up ultrasound examination at 30+ weeks of gestation showed dilatation and fluid accumulation involving the entire duodenum and proximal jejunum, with a maximum diameter of 15.9 mm. These findings were consistent with the typical ultrasonographic features of fetal small intestinal obstruction, and were highly consistent with the sonographic manifestations of intestinal atresia reported in the clinical literature.

According to the widely accepted prenatal ultrasonographic classification criteria for fetal jejunal atresia, the condition can be categorized into four types: Type I (membranous atresia), characterized by intact intestinal continuity and mesentery, with complete intestinal occlusion caused by an intraluminal fibrous membrane; Type II, characterized by blind-ending intestinal segments at both ends connected by a fibrous cord; Type III, characterized by complete intestinal separation with associated mesenteric defects; and Type IV, characterized by multiple segmental intestinal atresias. Based on the prenatal ultrasonographic manifestations and intraoperative findings in the present case, no intestinal segment separation, fibrous cord connection, or mesenteric defect was observed. The obstruction was solely caused by a single intraluminal fibrous diaphragm, which fulfilled the diagnostic criteria for isolated type I jejunal atresia.

The characteristic ultrasonographic features of high small intestinal obstruction include proximal bowel dilatation and a gradual increase in the AFI. In the present case, the increase in the AFI from 15.04 to 16.5 cm was not caused by intestinal malabsorption, but rather resulted from mechanical obstruction of the fetal gastrointestinal tract. Proximal intestinal atresia blocked the normal downward passage and excretion of swallowed amniotic fluid, leading to progressive accumulation of amniotic fluid in the uterine cavity (6). Although the AFI did not meet the criteria for severe polyhydramnios, this finding indirectly supported the presence of fetal high intestinal obstruction.

For fetuses with digestive tract abnormalities detected by ultrasound, genetic evaluation is an essential step. Genetic evaluation is critical for fetuses with prenatal ultrasonic digestive tract malformations. It identifies pathogenic chromosomal or genetic variants, distinguishes isolated intestinal defects from syndromic diseases with multi-system involvement, evaluates fetal long-term prognosis, guides perinatal management and neonatal surgical planning, and provides precise genetic counseling and recurrence risk assessment for subsequent pregnancies. The classic studies by Louw and Barnard demonstrated that jejunal atresia is primarily caused by intrauterine vascular ischemic accidents during gestation rather than genetic mutations (7). However, accumulating clinical evidence indicates that isolated jejunal atresia may still be accompanied by sporadic chromosomal microdeletions, microduplications or aneuploidy abnormalities, which cannot be completely excluded based on imaging findings alone (8). Thus, routine prenatal aneuploidy screening and CMA are recommended for fetuses with fetal jejunal atresia to rule out associated genetic abnormalities, reduce the risk of missed diagnosis of combined malformations, and provide accurate prenatal counseling for pregnant women.

In the present case, amniocentesis and CMA were performed in a timely manner and revealed no pathogenic chromosomal abnormalities. This provided critical evidence for the subsequent continuation of pregnancy and formulation of delivery and postnatal treatment plans. This case further suggests that genetic testing should be routinely performed for fetuses with prenatally detected intestinal obstruction in clinical practice to comprehensively evaluate overall fetal condition and avoid the missed diagnosis of associated malformations.

In addition, when ultrasound diagnosis is uncertain, or when further clarification of the obstruction level and assessment of bowel viability are required, MRI can be used as a complementary modality. MRI can more clearly demonstrate the course of the fetal intestinal tract, the level of obstruction, and intestinal wall blood supply, compensating for limitations of ultrasonography in displaying distal intestinal lesions. In the present case, as the ultrasonographic signs were typical, supplementary MRI was unnecessary, further highlighting the clinical value of standardized ultrasound screening in the diagnosis of simple fetal small intestinal obstruction.

Postnatal management of infants with fetal intestinal obstruction should follow the principles of rapid evaluation, emergency treatment, and early surgical intervention. Multidisciplinary collaboration among obstetricians, neonatologists, pediatric surgeons, and radiologists is crucial to optimize clinical outcomes (9). In the present case, the Neonatal Surgery Department was consulted prenatally to formulate a targeted postnatal treatment plan, facilitating integrated prenatal and postnatal care and ensuring timely intervention in the optimal therapeutic window for the infant.

The neonate was delivered at term by cesarean section without passage of meconium. Nasogastric tube placement and gastrointestinal decompression were performed immediately. Abdominal plain radiography showed gaseous distention of the intestinal loops, which was highly consistent with the prenatal diagnosis of gastrointestinal atresia, enabling prompt confirmation of the postnatal diagnosis.

Preoperative fasting and continuous gastrointestinal decompression effectively relieved intestinal distention and reduced the risk of aspiration and asphyxia associated with vomiting. Meanwhile, blood gas parameters, electrolyte levels, and infection markers were monitored to maintain hemodynamic stability, and prophylactic antibiotics were administered to reduce the risk of infection secondary to intestinal bacterial translocation. These preoperative measures fully complied with perioperative management standards for neonatal congenital intestinal obstruction and laid a solid foundation for safe surgical intervention (10).

Congenital intestinal atresia is the most common cause of fetal small intestinal obstruction, and surgery is the only curative approach. The primary surgical goal is to relieve obstruction and restore intestinal continuity. In the present case, intraoperative exploration revealed marked dilatation of the proximal jejunum approximately 20 cm distal to the ligament of Treitz, significant stenosis of the distal jejunum, and a membranous diaphragm at the transition zone, findings consistent with type I intestinal atresia, which is associated with a relatively favorable prognosis. Diaphragm resection plus end-to-end intestinal anastomosis was performed, completely relieving the obstruction while preserving maximal functional intestinal length and minimizing the risk of short bowel syndrome. The surgical strategy was appropriate and well aligned with the patient’s pathological features.

In neonatal intestinal atresia surgery, special attention should be paid to intestinal trimming and anastomotic techniques to minimize complications such as anastomotic leakage and stenosis caused by excessive tension or inadequate blood supply (11). In the present case, precise resection of the obstructing diaphragm and standardized intestinal anastomosis were successfully performed without postoperative complications, highlighting the importance of meticulous microsurgical techniques in pediatric surgery.

Postoperative care is critical for infant recovery, and mainly includes vital sign monitoring, gastrointestinal decompression care, nutritional support, and complication surveillance. After surgery, the infant passed meconium smoothly, with gradual recovery of intestinal function and no evidence of complications such as infection, anastomotic leakage, or recurrent obstruction. The infant was in good general condition, with an excellent prognosis.

Clinical data have demonstrated that overall survival exceeds 90% in infants with isolated congenital intestinal atresia following early standardized surgery and perioperative management (12). The prognosis of the infant in the present case is consistent with these reported data, further supporting the central role of early prenatal diagnosis, multidisciplinary collaboration, and prompt postnatal surgery in improving outcomes for affected infants.

The present study further extends the understanding and clinical management of isolated type I membranous jejunal atresia. Although 2D ultrasonography is the conventional primary modality for prenatal screening of fetal intestinal obstruction, the existing literature has largely focused on simple descriptions of imaging manifestations, while standardized scanning specifications, reliable ultrasonographic criteria for classification, and systematic perinatal integrated management protocols for type I jejunal atresia have rarely been summarized in detail (13). This study standardizes the dynamic 2D grayscale ultrasonographic scanning procedure for typical membranous jejunal atresia and demonstrates that accurate prenatal diagnosis can be achieved solely through standardized conventional ultrasonography without reliance on 3D/4D reconstruction or advanced image rendering techniques, providing practical technical guidance for routine clinical screening. Further, this study clarifies the pathophysiological mechanism underlying mild polyhydramnios secondary to high jejunal atresia, confirming that amniotic fluid accumulation is caused by mechanical excretion obstruction rather than intestinal malabsorption, thereby improving the theoretical interpretation of this condition. Moreover, this study emphasizes the necessity of routine CMA for vascular-origin jejunal atresia. Despite the intrauterine ischemic etiology of jejunal atresia, sporadic chromosomal abnormalities may still occur; therefore, standardized genetic screening contributes to comprehensive prenatal risk evaluation and reduces the risk of missed diagnoses of associated malformations.

Based on the ultrasonographic classification criteria and intraoperative features, the present case was definitively diagnosed as isolated type I jejunal atresia. By summarizing the comprehensive management model integrating prenatal imaging classification, genetic assessment, multidisciplinary consultation, individualized surgical intervention, and standardized perioperative care, this study addresses gaps in the technical and systematic management details of current reports and provides a replicable clinical strategy for the standardized diagnosis and treatment of similar fetal digestive malformations.

Conclusions

In conclusion, the diagnosis and management of fetal intestinal obstruction rely on a comprehensive model involving precise prenatal ultrasonographic classification, standardized genetic evaluation, multidisciplinary collaboration, early postnatal surgery, and refined perioperative management. Standardized 2D ultrasonography serves as the optimal first-line tool for accurate prenatal classification of isolated type I jejunal atresia; routine chromosomal testing excludes potential genetic aberrations; and timely surgical repair restores intestinal continuity, collectively contributing to favorable outcomes. The standardized integrated prenatal-postnatal management workflow summarized in this study may improve diagnostic accuracy and therapeutic efficacy in isolated fetal small intestinal obstruction, providing valuable evidence for optimizing clinical management strategies for similar congenital gastrointestinal malformations.

Acknowledgments

None.

Footnote

Funding: The study was supported by the Natural Science Foundation of Gansu Province (Nos. 25JRRA334, 23JRRA1390).

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://qims.amegroups.com/article/view/10.21037/qims-2026-0789/coif). All authors received support from the Natural Science Foundation of Gansu Province (Nos. 25JRRA334, 23JRRA1390). The authors have no other conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the Declaration of Helsinki and its subsequent amendments. This study was approved by the Ethics Committee of Gansu Provincial Maternity and Child-care Hospital. Written informed consent was obtained from the infant’s legal guardians for the publication of this article and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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