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Meconium ileus and intestinal atresia in fetuses and neonates
D Gaillard1, R Bouvier, C Scheiner
1Société Française de Foetopathologie, Faculté de Médecine Saint-Antoine, Paris, France.
Insights
This study reveals that fetal intestinal abnormalities like meconium ileus appear in the second trimester, often linked to cystic fibrosis. Later in gestation, intestinal stenosis or atresia become more common, associated with chromosomal issues or ischemia.
Area of Science:
- Perinatal Medicine
- Fetal Surgery
- Gastroenterology
Background:
- Intestinal abnormalities during gestation are significant causes of neonatal morbidity.
- Understanding the timing and associations of these conditions is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the types, mechanisms, and gestational timing of intestinal abnormalities.
- To identify associated conditions, including cystic fibrosis, chromosomal aberrations, and ischemic events.
Main Methods:
- Retrospective review of 102 cases from autopsies and surgical findings.
- Inclusion criteria: meconium ileus, intestinal stenosis/atresia, or meconium peritonitis.
- Exclusion criteria: esophageal atresia, anorectal atresia, abdominal wall defects.
Main Results:
- Meconium ileus predominantly seen in the second trimester (28/38), linked to cystic fibrosis (15), fetal blood swallowing (4), infection (6), or multiple abnormalities (10).
- Intestinal stenosis/atresia more common in the third trimester (46/56); duodenal malformations associated with Trisomy 21 (16/30), small intestinal atresias with ischemia (26).
- Meconium peritonitis (8/25 isolated cases) and cystic fibrosis (20 cases) were noted. Functional abnormalities were primarily second trimester, while anatomical lesions were later.
Conclusions:
- Functional intestinal abnormalities in fetuses are often diagnosed in the second trimester, frequently associated with cystic fibrosis or amniotic fluid issues.
- Anatomical intestinal lesions are typically identified later in gestation and are linked to ischemia, chromosomal abnormalities, or cystic fibrosis.
Abstract:
A collaborative study was performed to determine the different types and mechanisms of intestinal abnormalities during gestation. Cases had to fulfill one or more of the following three criteria: (1) meconium ileus, (2) intestinal stenosis or atresia, and (3) meconium peritonitis. Esophageal atresia, anorectal atresia, and abdominal wall defects were excluded. One hundred two cases were reviewed from the autopsies of 42 induced abortions, 22 stillborns, and the surgical findings in 38 neonates. Meconium ileus was detected mainly during the second trimester (28/38), and was associated with cystic fibrosis (15), fetal blood deglutition (4), infection (6), or multiple-abnormalities (10), in which three chromosomal aberrations were found. Intestinal stenosis or atresia was more commonly detected during the third trimester of gestation (46/56). Sixteen of the 30 duodenal malformations were associated with trisomy 21, whereas in the 26 small intestinal atresias, signs of distress or ischemia were most frequently detected. Only 8 of 25 meconium peritonitis cases were isolated. A total of 20 cystic fibrosis cases could be proved. In this series, functional abnormalities were observed predominantly in the second trimester and associated mainly with cystic fibrosis or amniotic fluid abnormalities. Anatomic lesions were commonly detected later on and associated with ischemic conditions, chromosomal aberrations, and even cystic fibrosis.