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Published on: February 5, 2021
Specific biochemical amniotic fluid pattern of fetal isolated esophageal atresia
Cécile Muller1, Isabelle Czerkiewicz, Fabien Guimiot
1Department of Pediatric Surgery, Robert Debré Hospital, AP-HP, University of Paris VII, Paris, France.
Insights
Prenatal diagnosis of esophageal atresia (EA) is improved by analyzing amniotic fluid (AF) biomarkers. A specific AF biochemical pattern, with elevated gamma-glutamyl transpeptidase (GGTP) and normal l-leucine-aminopeptidase (AMP), indicates EA with 100% accuracy.
Area of Science:
- Perinatal medicine
- Biochemistry
- Medical diagnostics
Background:
- Prenatal diagnosis of esophageal atresia (EA) can be enhanced through amniotic fluid (AF) analysis.
- Current ultrasound methods achieve only ~50% detection rate for EA.
- A specific AF biochemical profile, including high total protein, elevated gamma-glutamyl transpeptidase (GGTP), and normal l-leucine-aminopeptidase (AMP), predicts EA with 100% accuracy.
Purpose of the Study:
- To elucidate the biochemical basis for the specific AF marker pattern observed in EA.
- To investigate the origin and stability of key AF biomarkers (GGTP and AMP) in EA pregnancies.
Main Methods:
- Enzyme activity assays were performed on AF samples.
- Comparative analysis of AF markers between EA and other digestive atresias.
- Immunohistobiochemistry was used to assess local GGTP synthesis in the fetal esophagus.
- In vitro experiments evaluated AF-AMP activity inhibitors and compared the half-lives of AF-AMP and AF-GGTP.
Main Results:
- The AF biochemical pattern in EA was similar to upper duodenal atresia.
- No evidence of local GGTP synthesis was found in the fetal esophagus.
- No specific inhibitor of AF-AMP activity was detected.
- AF-GGTP exhibited a significantly longer half-life compared to AF-AMP.
Conclusions:
- The distinct AF biochemical pattern in EA is attributed to the swallowing anomaly.
- Reduced fetal swallowing leads to altered clearance rates of AF markers.
- The longer half-life of GGTP and shorter half-life of AMP, combined with swallowing dysfunction, explain the observed biomarker levels in EA.
Background:
Perinatal care of esophageal atresia (EA) may be improved by prenatal diagnosis. Ultrasound findings (polyhydramnios and/or nonvisualization of fetal stomach) lead to a detection rate of ~50%. An amniotic fluid (AF) biochemical pattern characterized by high total protein, γ-glutamyl transpeptidase (GGTP), and normal l-leucine-aminopeptidase (AMP) leads to a 100% detection rate. The aim of this study was to explain this specific pattern.
Methods:
On the basis of enzyme activities assay, the following four objectives were sought: (i) comparing AF markers between EA and other digestive tract atresias, (ii) determining local GGTP synthesis in the esophagus (immunohistobiochemistry), (iii) determining the presence of a specific AF-AMP activity inhibitor, and (iv) comparing AF-AMP and AF-GGTP half-lives.
Results:
The AF-EA pattern was similar to that observed in upper duodenal atresia (above the Oddi sphincter). No local synthesis of GGTP was observed in the esophagus. No AF-AMP activity inhibitor was found. AF-GGTP had a longer half-life than AF-AMP.
Conclusion:
Due to the swallowing anomaly observed in EA, GGTP and AMP values physiologically observed at 18 wk will decrease on the basis of the half-lives of markers, with a flat slope for GGTP and a sharp slope for AMP, therefore explaining the differences observed in the AF-EA pattern.
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