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Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?
1Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, California.
American Journal of Medical Genetics
|September 14, 1999
Summary
Cyclophosphamide (CP) is a pregnancy risk factor D drug. This case study suggests CP is a human teratogen, establishing a distinct embryopathy phenotype with multiple congenital anomalies, questioning its safety during pregnancy.
Area of Science:
- Obstetrics and Gynecology
- Teratology
- Genetics
Background:
- Cyclophosphamide (CP) is an alkylating agent used for cancer and autoimmune diseases.
- CP is a pregnancy risk factor D, with animal studies showing teratogenicity, but human data remains inconclusive.
- Previous reports of in utero CP exposure lacked a defined phenotype.
Observation:
- A case of first-trimester in utero cyclophosphamide exposure during pregnancy for systemic lupus erythematosus is presented.
- The infant exhibited growth retardation and multiple congenital anomalies.
- Associated maternal medications included nifedipine, atenolol, clonidine, prednisone, aspirin, and potassium chloride.
Findings:
- The infant presented with microbrachycephaly, craniosynostosis, hypotelorism, blepharophimosis, abnormal ears, limb defects (hypoplastic thumbs, oligodactyly), and other anomalies.
- Comparison with existing literature revealed shared manifestations: growth deficiency, developmental delay, craniosynostosis, blepharophimosis, flat nasal bridge, abnormal ears, and distal limb defects.
- Chromosomal analysis was normal.
Implications:
- This study provides evidence that cyclophosphamide is a human teratogen.
- A distinct cyclophosphamide embryopathy phenotype is proposed.
- The findings raise serious concerns regarding the safety of cyclophosphamide use during pregnancy.