Specific biochemical amniotic fluid pattern of fetal isolated esophageal atresia

Performance of prenatal diagnosis in esophageal atresia

“…Muller et al showed that digestive enzymes were abnormal in amniotic fluid in case of EA. They described an EA index with a threshold of 3 allowing 98% of sensibility and 100% of specificity . Using this EA index, Garabadian et al observed 90% of sensibility and 60% of specificity .…”

“…There are few studies evaluating biochemistry of the amniotic fluid in EA . Muller et al showed that digestive enzymes were abnormal in amniotic fluid in case of EA.…”

“…Biochemical analysis consisted on assay of GGTP (Olympus, Hamburg, Germany) and AFP (Dualkit, PerkinElmer, Turku, Finland). As described by Czerkiewicz et al , an EA index of >3 (corresponding to the multiplication of GGTP and of AFP, both expressed in multiple of median) was considered in favor of EA …”

“…The normal esophagus is not routinely examined during ultrasound screening, and prenatal suspicion of EA is often based upon the presence of polyhydramnios and/or the absence of or a small stomach bubble; nonetheless, these signs are not always present nor specific . More recently, magnetic resonance imaging (MRI) and biochemistry of the amniotic fluid have been developed to help in the diagnosis of EA and have been suggested as second‐line diagnostic tools to help confirm the diagnosis prenatally . Indeed, MRI allows to detect the esophageal pouch probably more reliably than ultrasound, and gamma‐glutamyl transpeptidase (GGTP) and alpha‐fetoprotein (AFP) in amniotic fluid are elevated in case of EA …”

“…More recently, magnetic resonance imaging (MRI) and biochemistry of the amniotic fluid have been developed to help in the diagnosis of EA and have been suggested as second‐line diagnostic tools to help confirm the diagnosis prenatally . Indeed, MRI allows to detect the esophageal pouch probably more reliably than ultrasound, and gamma‐glutamyl transpeptidase (GGTP) and alpha‐fetoprotein (AFP) in amniotic fluid are elevated in case of EA …”