Diagnostic algorithm for cholestasis in newborns1

NEGATIVE

LIVER BIOPSY
IF SIGNS OF
BILIARY
OBSTRUCTION

Cholestasis
and / or
cholestatic jaundice

Abdominal
ultrasound :
dilatation of
bile ducts?

Persistently
pale or
acholic
stool

YES

Biliary lithiasis

Choledochal cysts

Other extrahepatic causes

Biliary atresia

Neonatal sclerosing cholangitis

Exclude or assess:

Check for :

liver biopsy recommended but
not always feasible depending
on center

Check for :

Alagille syndrome

Alpha-1-antitrypsin deficiency

Cystic fibrosis

Cortisol deficiency

YES

NO

CHOLANGIO-
GRAM

NEGATIVE

LIVER BIOPSY
IF SIGNS
OF
BILIARY
OBSTRUCTION

Cholestasis
and / or
cholestatic jaundice

Abdominal
ultrasound :
dilatation of
bile ducts?

Persistently
pale or
acholic
stool

YES

Biliary lithiasis

Choledochal cysts

Other extrahepatic causes

Biliary atresia

Neonatal sclerosing cholangitis

Exclude or assess:

Check for :

Check for :

Alagille syndrome

Alpha-1-antitrypsin deficiency

Cystic fibrosis

Cortisol deficiency

YES

NO

CHOLANGIO-
GRAM

liver biopsy recommended
but not always feasible
depending on center

1. Adapted from, Protocole national de diagnostic et de soins : Déficits de synthèse des acides biliaires primaires. In: Génétiques CdRCdlAdVBedC, ed., 2019.