Version May 2024
| Finding | Implications |
| Birth history | |
| Prenatal ultrasonography and results | Evaluate for choledochal cyst, gallstones, or anomalies consistent with biliary atresia splenic malformation (asplenia, polysplenia, vascular anomalies). |
| Birth weight and gestational age | Infants with biliary atresia typically have normal prenatal history and normal birth weight. Many genetic and metabolic causes of neonatal liver disease are associated with poor fetal growth. |
| Newborn screen results | Disorders on the newborn screen that can present with cholestasis include cystic fibrosis, galactosemia, tyrosinemia or other disorders of amino acid metabolism, and disorders of fatty acid oxidation or organic acid metabolism*. |
| Isoimmune hemolysis | In infants with severe ABO incompatibility, conjugated hyperbilirubinemia occasionally persists for 2 weeks or more after birth¶. |
| Maternal infections (TORCH) | Among the TORCH infections, herpes simplex virus infection and syphilis are particularly likely to be associated with liver injury in the neonate. |
| Complications of pregnancy | Intrahepatic cholestasis of pregnancy in the mother (which may manifest as pruritus without jaundice) suggests the possibility of PFIC in the infant. |
| Acute fatty liver of pregnancy in the mother suggests the possibility of a fatty acid oxidation defect in the infant. | |
| Birth complications | Hypoxic-ischemic encephalopathy/shock lead to liver ischemia; this possibility is suggested by low Apgar scores. |
| Family history | |
| Consanguinity | Increases the risk of an autosomal recessive disorderΔ. |
| History of similar problems in the family | Suggests a heritable disorder, particularly those with dominant or codominant inheritance◊. |
| History of prior fetal demise or recurrent early pregnancy losses | Consider gestational alloimmune liver disease or a severe heritable disorder |
| Stool characteristics | |
| Stool color | Persistent acholic (clay-colored) stools are a sign of cholestasis, which could be the result of biliary obstruction (eg, biliary atresia) or other causes§. |
| Stooling pattern | Delayed stooling may occur in cystic fibrosis or hypothyroidism; diarrhea may occur in infection, metabolic disease, or PFIC. |
| Diet and gastrointestinal symptoms | |
| Dietary history | Galactosemia is only expressed if the infant is consuming breast milk or a cow's milk-based formula (contains lactose, which is hydrolyzed to galactose). |
| Weight gain | Severe cholestasis, genetic disease, or metabolic disease may cause failure to thrive. |
| Vomiting | May occur in metabolic disease, bowel obstruction, and pyloric stenosis. |
| Other symptoms | |
| Urine color | Dark urine suggests hyperbilirubinemia. |
| Excessive bleeding (eg, after circumcision) | May indicate coagulopathy (eg, due to vitamin K deficiency or poor hepatocellular function). |
| Infant's behavior | Irritability may indicate metabolic disease or sepsis; lethargy may indicate metabolic disease, sepsis, hypothyroidism, or panhypopituitarism. |
| Neonatal infection | Infections, particularly urinary tract infections, may be associated with transient cholestasis. |
PFIC: progressive familial intrahepatic cholestasis; TORCH: toxoplasmosis, other (syphilis), rubella, cytomegalovirus, herpes simplex virus.
* All states in the United States routinely perform newborn screening for cystic fibrosis, galactosemia, and several fatty acid and organic acid disorders. Most states also include screening for tyrosinemia. Details are available at Baby's First Test.
¶ Isoimmune hemolysis causes a hyperbilirubinemia that is predominantly unconjugated but may have a significant conjugated component due to immaturity of the liver and enterohepatic circulation.
Δ Disorders with an autosomal recessive pattern of inheritance include cystic fibrosis, alpha-1 antitrypsin deficiency, galactosemia, tyrosinemia, and PFIC.
◊ Disorders with dominant or codominant inheritance include Alagille syndrome.
§ Stool color cards provide examples of normal and abnormal infant stool colors. An example is available at Perinatal Services BC.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
