Introduction Gastroschisis is a major congenital abdominal wall defect that, in industrialized countries, is associated with neonatal survival rates exceeding 90%. Despite this, the condition remains burdened by significant morbidity, particularly in cases of complex gastroschisis, which are characterized by major intestinal complications at birth and are associated with worse perinatal and long-term outcomes. Accurate prenatal identification of complex gastroschisis represents a relevant clinical need, as it may improve prenatal counseling, optimize perinatal management, and support delivery planning. Moreover, increasing interest has emerged in the potential role of fetal surgery for this condition, based on experimental and early clinical data. In this context, prenatal risk stratification is also crucial for the future identification of candidates for potential fetal therapy. The present study aimed to evaluate the role of prenatal ultrasound in the prognostic assessment of fetuses with gastroschisis, with particular focus on identifying ultrasound markers associated with complex gastroschisis at birth. Materials and Methods This was a single-center retrospective observational study including fetuses with a prenatal or postnatal diagnosis of gastroschisis managed at a tertiary referral center between January 2012 and December 2025. Prenatal ultrasound findings and postnatal outcomes were collected and analyzed. The study population was stratified into simple and complex gastroschisis based on the presence of major intestinal complications at birth. Two ultrasound time windows were considered: <26 gestational weeks and 30-34+6 gestational weeks. The main ultrasound parameters analyzed were intra-abdominal bowel dilatation (IABD), extra-abdominal bowel dilatation (EABD), extra-abdominal bowel wall thickness, and gastric dilatation. Univariate logistic regression analysis was performed to assess associations between prenatal ultrasound markers and complex gastroschisis. Perinatal and one-year follow-up outcomes were also compared between groups. Results A total of 43 cases were included, of which 8 were classified as complex gastroschisis. Adverse postnatal outcomes, including longer time to full enteral feeding, prolonged hospital stay, and higher rates of enterostomy and gastrostomy, were significantly more frequent in the complex group. At medium-term follow-up, the need for parenteral nutrition and gastrostomy at one year remained significantly higher among complex cases. Among prenatal ultrasound markers, intra-abdominal bowel dilatation ≥14 mm in the third trimester (30-34+6 weeks) was significantly more frequent in the complex group and emerged as a potential predictor of complex gastroschisis in univariate logistic regression analysis. No significant predictive value was found before 26 weeks. Discussion Most prenatal gastrointestinal ultrasound markers evaluated showed limited discriminatory power in differentiating simple from complex gastroschisis. In contrast, third-trimester intra-abdominal bowel dilatation (IABD ≥14 mm) was the parameter most strongly associated with complex gastroschisis, in line with previous evidence. However, the absence of reliable second-trimester predictors limits early prenatal risk stratification and the identification of potential candidates for fetal therapy. These findings highlight the need for standardized cut-offs and prospective multicenter validation. Conclusions In this single-center cohort, IABD ≥14 mm in the third trimester emerged as the most clinically relevant prenatal ultrasound marker associated with complex gastroschisis. This result may support late-gestation counseling and prognostic assessment. Further prospective studies are needed to validate these findings and to identify reliable second-trimester markers that could improve early prenatal risk stratification for fetal therapy strategies.

Prenatal Ultrasonographic Indicators for the Prediction of Complex Gastroschisis and Adverse Perinatal Outcomes

VIO, CHIARA
2023/2024

Abstract

Introduction Gastroschisis is a major congenital abdominal wall defect that, in industrialized countries, is associated with neonatal survival rates exceeding 90%. Despite this, the condition remains burdened by significant morbidity, particularly in cases of complex gastroschisis, which are characterized by major intestinal complications at birth and are associated with worse perinatal and long-term outcomes. Accurate prenatal identification of complex gastroschisis represents a relevant clinical need, as it may improve prenatal counseling, optimize perinatal management, and support delivery planning. Moreover, increasing interest has emerged in the potential role of fetal surgery for this condition, based on experimental and early clinical data. In this context, prenatal risk stratification is also crucial for the future identification of candidates for potential fetal therapy. The present study aimed to evaluate the role of prenatal ultrasound in the prognostic assessment of fetuses with gastroschisis, with particular focus on identifying ultrasound markers associated with complex gastroschisis at birth. Materials and Methods This was a single-center retrospective observational study including fetuses with a prenatal or postnatal diagnosis of gastroschisis managed at a tertiary referral center between January 2012 and December 2025. Prenatal ultrasound findings and postnatal outcomes were collected and analyzed. The study population was stratified into simple and complex gastroschisis based on the presence of major intestinal complications at birth. Two ultrasound time windows were considered: <26 gestational weeks and 30-34+6 gestational weeks. The main ultrasound parameters analyzed were intra-abdominal bowel dilatation (IABD), extra-abdominal bowel dilatation (EABD), extra-abdominal bowel wall thickness, and gastric dilatation. Univariate logistic regression analysis was performed to assess associations between prenatal ultrasound markers and complex gastroschisis. Perinatal and one-year follow-up outcomes were also compared between groups. Results A total of 43 cases were included, of which 8 were classified as complex gastroschisis. Adverse postnatal outcomes, including longer time to full enteral feeding, prolonged hospital stay, and higher rates of enterostomy and gastrostomy, were significantly more frequent in the complex group. At medium-term follow-up, the need for parenteral nutrition and gastrostomy at one year remained significantly higher among complex cases. Among prenatal ultrasound markers, intra-abdominal bowel dilatation ≥14 mm in the third trimester (30-34+6 weeks) was significantly more frequent in the complex group and emerged as a potential predictor of complex gastroschisis in univariate logistic regression analysis. No significant predictive value was found before 26 weeks. Discussion Most prenatal gastrointestinal ultrasound markers evaluated showed limited discriminatory power in differentiating simple from complex gastroschisis. In contrast, third-trimester intra-abdominal bowel dilatation (IABD ≥14 mm) was the parameter most strongly associated with complex gastroschisis, in line with previous evidence. However, the absence of reliable second-trimester predictors limits early prenatal risk stratification and the identification of potential candidates for fetal therapy. These findings highlight the need for standardized cut-offs and prospective multicenter validation. Conclusions In this single-center cohort, IABD ≥14 mm in the third trimester emerged as the most clinically relevant prenatal ultrasound marker associated with complex gastroschisis. This result may support late-gestation counseling and prognostic assessment. Further prospective studies are needed to validate these findings and to identify reliable second-trimester markers that could improve early prenatal risk stratification for fetal therapy strategies.
2023
Prenatal Ultrasonographic Indicators for the Prediction of Complex Gastroschisis and Adverse Perinatal Outcomes
Gastroschisis
Fetal Ultrasound
Risk Stratification
Fetal Therapy
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12608/103568