Conflict of interest: None.
Article first published online: 8 FEB 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 3, pages 588–596, March 2012
How to Cite
Hoeltzenbein, M., Elefant, E., Vial, T., Finkel-Pekarsky, V., Stephens, S., Clementi, M., Allignol, A., Weber-Schoendorfer, C. and Schaefer, C. (2012), Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services. Am. J. Med. Genet., 158A: 588–596. doi: 10.1002/ajmg.a.35223
How to Cite this Article: Hoeltzenbein M, Elefant E, Vial T, Finkel-Pekarsky V, Stephens S, Clementi M, Allignol A, Weber-Schoendorfer C, Schaefer C. 2012. Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services. Am J Med Genet Part A 158A:588–596.
- Issue published online: 16 FEB 2012
- Article first published online: 8 FEB 2012
- Manuscript Accepted: 6 DEC 2011
- Manuscript Received: 1 OCT 2011
- mycophenolate mofetil;
- mycophenolic acid;
- drug induced abnormalities;
- pregnancy outcome;
- congenital anomalies;
- birth defects;
- spontaneous abortion;
- prospective study;
- immunosuppressant drug
After maternal exposure to mycophenolate in pregnancy a high number of fetal losses and a specific pattern of birth defects consisting of microtia, cleft lip, and other anomalies have been reported. However, so far, prospective data on pregnancy outcome allowing quantitative risk assessment are missing. We report on 57 prospectively ascertained pregnancies after maternal therapy with mycophenolate (mycophenolate mofetil or mycophenolate sodium) identified by European Teratology Information Services (ETIS) through their risk consultation process. The outcome of these prospective pregnancies was as follows: 16 spontaneous abortions, 12 elective terminations of pregnancy (ETOP) (including two late terminations for multiple malformations consistent with mycophenolate embryopathy), and 29 liveborn infants. The probability of spontaneous abortion was about 45% (95% CI 29 to 66%) estimated using survival analysis technique. Six out of 29 live born infants had major congenital defects: Two with external auditory canal atresia (EACA) (with and without microtia), one with tracheo-esophageal atresia, one with severe hydronephrosis, one with an atrial septal defect (ASD) and one with a myelomeningocele. Thus, at least four fetuses/infants of our prospective case series had a clinical phenotype consistent with mycophenolate embryopathy. Our results confirm a high incidence of major malformations (26%) after first trimester exposure to mycophenolate. Apart from exposure to mycophenololate, the underlying maternal disease and concomitant medication may also have contributed to the other poor pregnancy outcomes such as a high rate of spontaneous abortions, prematurity (62%), and low birth weight (31%). © 2012 Wiley Periodicals, Inc.