A large international collaboration has reported 46 cases associated with maternal anti-fetal acetylcholine receptor antibodies (fRACh), the largest cohort ever described to date.
- The 30 mothers had anti-fRACh and anti-RACh antibodies, and half of them had not been diagnosed with myasthenia prior to pregnancy.
- There were seven terminations of pregnancy for severe congenital multiple arthrogryposis, and four early deaths from respiratory failure.
- In the 34 children, retractions and early respiratory and bulbar impairment were predominant and improved over time.
- Oral salbutamol improved symptoms in 13 out of 16 patients.
- Maternal immunosuppressive therapy significantly reduced infant mortality compared with no treatment.
The authors propose the term Fetal Acetylcholine Receptor Antibody-related Disorder (FARAD) to designate these pathologies, which range from lethal arthrogryposis to fetal acetylcholine receptor inactivation syndrome (FARIS). Screening is based on systematic measurement of anti-RACh antibodies, including the foetal isoform, before the 16th week of pregnancy. It could be prevented by immunomodulatory treatment during pregnancy, the details of which have yet to be specified.
