Prenatal Diagnosis, Neonatal Outcomes, and Management of Pregnancies Complicated by Gastroschisis

Rajuddin ^1*, Inong Indira Meutia ²

1 Departemen Obstetri dan Ginekologi Fakultas Kedokteran Universitas Syiah Kuala / RSUD, Banda Aceh, Indonesia

2 Residen Departement Obstetri dan Ginekologi Fakultas Kedokteran Universitas Syiah Kuala / RSUD, Banda Aceh, Indonesia

*Corresponding Author Rajuddin, Email: Rajuddin@gmail.com

INTRODUCTION

Gastroschisis is a congenital abdominal wall defect characterized by herniation of intestines, and occasionally other abdominal organs, through a small (<2 cm) defect typically right of the umbilicus, due to incomplete abdominal wall closure during embryogenesis.[1] Its etiology is not fully understood, with theories suggesting early embryonic ischemia from right omphalomesenteric artery disruption or failure of lateral abdominal folds to fuse, leading to herniation.[2,3] Unlike omphalocele, gastroschisis rarely associates with other anomalies, though intestinal atresia or stenosis occurs in 7–30% of cases, cardiac malformations in 8%, and rare diaphragmatic hernias are reported.[4,5]

Risk factors include young maternal age (mean 20 years), substance abuse, low body mass index, smoking, alcohol use, environmental teratogens, and low socioeconomic status.[6] Globally, gastroschisis prevalence is approximately 1 per 2000 live births, with survival rates of 90–95% with optimal management.[1] In Indonesia, data are scarce, with 37 cases reported at Sanglah Hospital from 2010–2012, reflecting challenges in specialized care access.[7] Prenatal diagnosis via ultrasonography, feasible by 10–12 weeks gestation with 95% specificity and 60–75% sensitivity, enables monitoring for complications like fetal

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growth restriction, bowel obstruction, or polyhydramnios, supported by elevated amniotic fluid alpha- fetoprotein and acetylcholinesterase levels.[8,9]

Management includes counseling on termination for non-viable fetuses, delivery post-lung maturation to limit amniotic fluid exposure, and immediate postnatal surgery.[10,11] Although cesarean delivery was historically preferred to reduce bowel trauma, recent evidence shows no advantage over vaginal delivery, reserving cesarean for obstetric indications.[12] This case study examined prenatal diagnosis and management of gastroschisis in a primigravida, emphasising early detection and multidisciplinary care in resource-limited settings.

CASE DESCRIPTION

A 26-year-old primigravida at 34–35 weeks of gestation was referred from the Zubir Mahmud Regional Hospital. Zainoel Abidin Hospital, Banda Aceh, due to a prenatal diagnosis of gastroschisis, confirmed by ultrasonography at 6 months gestation showing intestines outside the fetal abdomen. The patient reported severe abdominal pain and vaginal spotting for 3 weeks, with amniotic fluid leakage noted 9 h prior to admission. She denied mucus or blood discharge from the birth canal but reported occasional mild contractions and active foetal movement. Her last menstrual period was 1 March 2023 with an expected delivery date of 8 December 2023 which corresponds to 33 weeks and 2 days of gestation. She had three obstetrician visits and two midwifery consultations during pregnancy. The additional history included a carious molar tooth, but no vaginal discharge was reported. Referral was necessitated by the absence of a paediatric surgeon and the neonatal intensive care unit at the referring hospital.

Table 1. Clinical Examination Findings

Parameter Result

Vital Signs

Blood Pressure 125/70 mmHg

Pulse Rate 89 beats/min

Respiratory Rate 19 breaths/min

Obstetric Examination

Fundal Height (TFU) 26 cm

Leopold I Hard, round, mobile fetal head

Leopold II Fetal back on mother’s left, hard, flat,

elongated

Fetal Heart Rate (DJJ) 142 beats/min

Leopold III Soft, non-mobile breech

Leopold IV Presenting part above pelvic inlet, no

contractions

Speculum Examination

Cervix Appearance Livid

External Cervical Os Closed, no dilation

Fluxus Negative

Flour Positive

Amniotic Membranes Protruding

Nitrazine Test Positive

Vaginal Examination (Touche)

Cervix Position Posterior, soft

Cervical Dilation None

Palpable Fetal Parts None

Note: Clinical examination was conducted at dr. Zainoel Abidin Hospital, Banda Aceh, on a 26-year-old primigravida at 34–35 weeks gestation, confirming stable hemodynamics and breech presentation with no labor progression.

Initial physical examination revealed stable haemodynamics (blood pressure, 125/70 mmHg; pulse, 89 beats/min; respiratory rate, 19 breaths/min). Obstetric examination showed a fundal height of 26 cm, Leopold I indicating a hard, round, mobile fetal head, Leopold II confirming the fetal back on the mother’s left, fetal heart rate of 142 beats/min, Leopold III identifying a soft, non-mobile breech, and Leopold IV noting the presenting part above the pelvic inlet with no contractions. Speculum examination revealed a livid cervix, closed external os, no dilation, negative fluxus, positive flour, protruding amniotic membranes, and a positive

nitrazine test. Vaginal examination confirmed a posterior soft cervix with no dilation or palpable foetal parts. Laboratory results indicated no anemia (hemoglobin 11.3 g/dL, hematocrit 32%, erythrocytes 3.7 million/mm³, leukocytes 18,070/mm³, MCV 87 fL, MCH 31 pg, MCHC 35%, RDW 13.9%), with other parameters normal. Ultrasonography confirmed a single breech fetus, biparietal diameter 7.99 cm, head circumference 29.04 cm, femur length 5.33 cm, estimated fetal weight 1777 g, severe oligohydramnios, and placenta located at the fundus to anterior corpus, consistent with 34–35 weeks gestation and gastroschisis (Table 2).

Table 2. Ultrasonography and Laboratory Findings

Parameter Result

Ultrasonography

Fetal Status Single Live Fetus

Presentation Breech

Fetal Heart Rate Positive

Biparietal Diameter (BPD) 7.99 cm

Head Circumference (HC) 29.04 cm

Femur Length (FL) 5.33 cm

Estimated Fetal Weight (TBW) 1777 g

Amniotic Fluid Severe oligohydramnios

Placenta Location Fundus to anterior corpus

Diagnosis Gastroschisis (intestines outside fetal

abdomen), 34–35 weeks gestation

Laboratory Results

Hemoglobin 11.3 g/dL

Hematocrit 32%

Erythrocyte Count 3.7 million/mm³

Leukocyte Count 18,070/mm³

Mean Corpuscular Volume (MCV) 87 fL

Mean Corpuscular Hemoglobin (MCH) 31 pg

Mean corpuscular haemoglobin concentration (MCHC) 35%

Red Cell Distribution Width (RDW) 13.9%

Other Parameters Within Normal Limits

Notes: Ultrasonography was performed at the dr. Zainoel Abidin Hospital confirmed gastroschisis and severe oligohydramnios. Laboratory results indicated no anaemia, with elevated leukocyte levels, suggesting possible inflammation. Findings consistent with 34–35 weeks of gestation.

The diagnosis was primigravida at 33–34 weeks with a live single breech foetus, not in labour, congenital gastroschisis, and severe oligohydramnios. The patient was referred to the fetomaternal division, where lung maturation was induced with dexamethasone 6 mg every 12 h for 2 days, followed by planned caesarean section in collaboration with a paediatric surgeon. On 31 October 2023 caesarean delivery was performed, resulting in a female neonate weighing 1400 g with an Apgar score of 0/0, confirming gastroschisis, and a complete placenta was delivered.

DISCUSSION

This case of a 26-year-old primigravida at 34–35 weeks of gestation with gastroschisis, diagnosed prenatally via ultrasonography at dr. Zainoel Abidin Hospital, Banda Aceh, highlights critical challenges in managing this congenital abdominal wall defect, characterized by visceral herniation through a right-sided defect without a protective membrane.[13] Ultrasonography, with 95% specificity and 60–75% sensitivity, confirmed externalized intestines and severe oligohydramnios, consistent with early detection capabilities from 10–12 weeks gestation.[9]

The absence of associated anomalies, such as intestinal atresia (7–30%) or cardiac malformations (8%), aligns with typical presentations, though serial ultrasonography is vital for monitoring complications like bowel obstruction, necrosis, or closed gastroschisis, none of which were evident here.[14] The patient’s age aligns with the risk factor of young maternal age, though other factors like substance abuse were not reported, possibly due to limited history-taking in resource-constrained settings.[6,7] Prenatal diagnosis enabled informed planning, crucial in areas with limited access to pediatric surgical and neonatal intensive care.[7]

The cesarean delivery on October 31, 2023, was prompted by breech presentation and severe oligohydramnios to minimize bowel trauma and amniotic fluid exposure, which can induce peel formation and intestinal damage.[12] Recent meta-analyses indicate no outcome benefit of cesarean over vaginal delivery, but cesarean was chosen to facilitate immediate pediatric surgical intervention, critical for complex cases.[12] The neonate’s low birth weight (1400 g) and Apgar score of 0/0 suggest prematurity and complex gastroschisis, potentially a closed defect causing ischemia, which increases risks of short-bowel syndrome and prolonged parenteral nutrition in approximately 20% of complicated cases.[13-16] Elevated amniotic fluid inflammatory markers, such as interleukin-6 and ferritin, likely contributed to intestinal dysmotility, supporting early delivery to mitigate damage.[17] The poor neonatal outcome may also reflect intrauterine growth restriction, as the estimated fetal weight (1777 g) was below expected for gestational age.[18]

Multidisciplinary management involving fetomaternal and pediatric surgical teams was essential, yet the neonate’s poor outcome underscores systemic challenges, including delayed referral due to the absence of a pediatric surgeon and neonatal intensive care at the referring hospital.[7] While gastroschisis survival exceeds 90%, complications like intestinal atresia elevate mortality risk up to 20-fold, emphasizing the need for timely surgery and nutritional support.[19] The case highlights healthcare disparities in Indonesia, where access to specialized care remains limited, potentially exacerbating adverse outcomes.[7] Future research should focus on standardizing ultrasonographic criteria for bowel dilation (7–25 mm) and explore amnioinfusion to reduce intestinal damage, particularly in resource-limited settings, to optimize delivery timing and neonatal outcomes.[20]

CONCLUSION

This study of a 26-year-old primigravida at 34–35 weeks of age with gastroschisis, diagnosed via ultrasonography at Adam Malik Hospital, Medan, highlights the role of early detection in managing this abdominal wall defect. Ultrasonography from 12 weeks of guided caesarean delivery to reduce bowel trauma. Despite a >90% survival rate, the neonate’s poor outcome (1400 g, Apgar 0/0) reflects intestinal damage, risking early mortality or short-bowel syndrome. Multidisciplinary care is vital, but regional healthcare disparities in Indonesia underscore the need for improved access to neonatal care.

DECLARATIONS

None

CONSENT FOR PUBLICATION

The Authors agree to be published in the Journal of the Society of Medicine.

FUNDING

None

COMPETING INTERESTS

The authors declare no conflict of interest in this case report.

AUTHORS’ CONTRIBUTIONS

All authors made substantial contributions to the case report. DFN was responsible for patient management, data collection, and the initial drafting of the manuscript. All authors reviewed and approved the final version of the manuscript, ensuring its accuracy and integrity and being accountable for all aspects of the work.

ACKNOWLEDGMENTS

None

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