Novel heterozygous ABCB4 gene mutation causing recurrent first-trimester intrahepatic cholestasis of pregnancy

J Perinatol. 2014 Sep;34(9):711-2. doi: 10.1038/jp.2014.86.


Intrahepatic cholestasis of pregnancy (ICP) typically presents in the late second or third trimester and carries an increased risk of fetal demise and neonatal morbidity and mortality. First trimester onset is rare and should alert the physician to explore a possible genetic basis for the disease. We present a 26-year-old Hispanic gravida 3, para 0202 with recurrent first-trimester onset ICP. Given her atypical history and presentation, a genetic cause was considered. She was found to have a novel heterozygous missense mutation in the ABCB4 canalicular membrane transport gene. First or early second trimester presentation of ICP should prompt investigation into genetic causes of the disease. Individualized family counseling and neonatal evaluation should be addressed if a disease-causing genetic mutation is diagnosed.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / deficiency*
  • ATP Binding Cassette Transporter, Subfamily B / genetics
  • Adult
  • Cholestasis, Intrahepatic / genetics*
  • Female
  • Heterozygote
  • Humans
  • Mutation, Missense*
  • Pregnancy
  • Pregnancy Complications / genetics*
  • Pregnancy Trimester, First
  • Pregnancy Trimester, Second


  • ATP Binding Cassette Transporter, Subfamily B
  • multidrug resistance protein 3

Supplementary concepts

  • Cholestasis, progressive familial intrahepatic 3