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RCOG World Congress 2025

June 23 - 25, 2025 | ExCeL London, UK

EP.1086

Successful Pregnancy Outcome in Alagille Syndrome

Part of Topic

High risk pregnancy

Successful Pregnancy Outcome in Alagille Syndrome


  • Alagille syndrome(ALGS) is a rare autosomal dominant/de novo condition due to mutation in JAG1 or NOTCH2.
  • It a multi-system disorder associated with hepatic and renal dysfunction, cholestasis, vertebral anomalies, hypertension, abnormal facial features, cardiac malformations and ocular conditions.
  • There is an increased association with miscarriage, pre-eclampsia, obstetric cholestasis and intrauterine fetal growth restrictions.
  • There are few documented successful pregnancy outcomes in women with Alagille syndrome

22 years old female-known ALGS manifesting with mild left pulmonary artery stenosis, posterior embryotoxon, low lying cerebellar tonsils, nasal polyposis and some renal & liver involvement. 

Referred for consultant led care early-referred to local maternal medicine network. Plan for cardio(advised ECHO-no further concerns) & neuro MDT, with monthly LFTs, FGR pathway & thromboprophylaxis.

First trimester screening was low risk (QUAD test). Anomaly scan normal and uncomplicated first trimester. Regular follow ups with midwife.

  • LFTs and bile acid worsening from 32 weeks-admitted for further review 
  • Anaesthetic input during stay advised not safe for neuraxial procedure. 
  • Bile acids > 100 with rising urate and proteinuria-planned for induction at 35 weeks 
  • Growth static on scans 
  • Spontaenous rupture of membranes at 34+2 with thin meconium hence decision to augment labour
  • On labour ward: Episode of loss of consciousness. Hypertensive and hyperreflexia 
  • Responding to painful stimuli-suspicion of eclamptic seizure (atypical)
  • 2 cm dilated on vaginal exam
  • Plan for emergency Caesarean section(C/S) followed by neuroimaging.
  • Uneventful recovery with no recollection of events.

Despite it’s rarity, it’s worth considering in women withpersistently deranged liver/kidney function postnatally. Furthermore, considerations should be made in creating pathways for pregnant people with ALGS.


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