Prenatal diagnosis of extrahepatic biliary duct atresia

Abstract

A rare case of extrahepatic biliary atresia was diagnosed by a combination of prenatal ultrasound and measurements of fetal digestive enzymes in amniotic fluid. Ultrasound at 15 and 18 weeks' gestation failed to detect the gall bladder, and amniotic fluid digestive enzyme values were below the fifth percentile. The patient decided to terminate the pregnancy. Post-abortal pathological examination confirmed the diagnosis.

Nonvisualization of the fetal gallbladder by second‐trimester ultrasound scan: strategy of clinical management based on four examples

“…Ben- Ami et al (2002) report a case of nonvisualization of the gallbladder associating low amniotic fluid digestive enzyme levels and the absence of CFTR gene mutations, suggested biliary duct atresia, a diagnosis confirmed at autopsy. In three prospective studies, isolated agenesis of the gallbladder explained 12 to 28% of nonvisualization of the gallbladder (Bronshtein et al, 1993;Blazer et al, 2002;Ochshorn et al, 2007).…”

“…When nonvisualization of the gallbladder is confirmed by a second US examination performed 7 to 15 days later, the etiology should be investigated because of the association with various abnormalities, such as renal agenesis, hydronephrosis, cerebral ventricular dilatation, chromosomal anomalies (particularly trisomy 21), cystic fibrosis, biliary atresia, and multiple malformation (Bennion et al, 1988;Bronshtein et al, 1993;Duchatel et al, 1993;Albayram et al, 2002;Ben-Ami et al, 2002;Simon-Bouy et al, 2002;Blazer et al, 2002;Ochshorn et al, 2007). However, the absence of indications in the US does not exclude severe abnormalities, such as cystic fibrosis or biliary duct atresia.…”

Nonvisualization of the Fetal Gallbladder: Can Levels of γ-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosisγ

“…Abnormal levels of amniotic fluid enzymes have been used for the prenatal diagnosis of digestive tract anomalies, as in CF, intestinal obstruction, and BA [6,12,13,17]. However, controversy exists regarding the yield of assessing GGTP levels of amniotic fluid in the prenatal diagnosis of fetuses whose gallbladder cannot be visualized [6,7,18,19,20].…”

Prenatal ultrasound diagnosis of cystic biliary atresia

“…It is a well‐described postnatal entity 2 associating biliary atresia and a portal cyst. Nonvisualization of the gallbladder during the second trimester ultrasound should prompt concern for BA 3, 4, 5. Other gallbladder abnormalities can be diagnosed prenatally such as agenesis, left‐sided, septated or bilobed gallbladder 6.…”