Alagille Syndrome: Prenatal Diagnosis and Pregnancy Outcome

Abstract

The Alagille syndrome (AGS) is a multisystem autosomal dominant condition. In this case report, we describe a pregnant woman with this unusual disorder, in whom serial fetal sonography revealed severe pulmonary stenosis and progressively severe intrauterine growth retardation, suggesting that the fetus also had AGS, a diagnosis which was confirmed postnatally. In this report, the potential complications for pregnancy, labor and delivery when both mother and fetus are affected with AGS are described.

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

“…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.…”

Alagille syndrome and pregnancy: anesthetic management for cesarean section

“…[7][8][9] For females with AS who reach adulthood, detailed management during pregnancy and childbirth have rarely been documented. 10,11 Cholestasis, resulting from intrahepatic bile duct paucity, is the main manifestation of AS and appears in the first three months of life in 45-75%, and in the remainder before three years of age. 4 Cholestasis can progress to cirrhosis in 10-15% of cases.…”

Alagille Syndrome

“…High probability of Alagille mutation in the fetus, although with variable phenotypic manifestations 2. Prenatal ultrasonography (Albayram et al 2002): 1. Severe pulmonary artery stenosis 2.…”