Progressive partial lipodystrophy in association with intrauterine death and growth retardation

Abstract

Atresia and fistula of the esophagus are among the most common congenital anomalies, but their prenatal diagnosis is only rarely achieved by ultrasonography, amniofetography or cu-fetoprotein (AFP) determination. Intra-amniotic injection of radiopaque dye into the amniotic cavity and radiologic imaging of the fetal gastrointestinal tract have been used most frequently in pregnancies with hydramnios and the sonographic finding of absent fluid in the gastrointestinal tract. It is known, however, that partial passage of the x-ray contrast medium into the fetal intestine in cases of esophageal atresia can occur, thus giving rise to a false negative diagnosis. A simple and reliable biochemical marker present in the amniotic fluid would be of great practical importance. Amniotic fluid acetylcholinesterase as a possible marker for the prenatal diagnosis of esophageal atresia was recently suggested by a case report of a pregnancy characterized by fetal esophageal atresia, polyhydramnios, ambiguous amniofetography, a normal amniotic fluid AFP concentration, and an elevated amniotic fluid acetylcholinesterase level.’ To test the reliability of this proposed marker we retrospectively examined samples of clear amniotic fluid obtained at second-trimester amniocenteses of three pregnancies, each of which proved to be complicated by upper gastrointestinal atresia. Two of these cases had a positive acetylcholinesterase band on gel electrophoresis and normal AFP concentrations. In one case of an esophageal atresia with tracheoesophageal fistula a normal AFP value and no specific acetylcholinesterase band was found on electrophoresis.