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Esophageal atresia and prenatal exposure to mycophenolate
M C Martín1, E Cristiano2, M Villanueva3
1National Center of Medical Genetics "Dr Eduardo Castilla", Buenos Aires, Argentina; National Registry of Congenital Anomalies of Argentina (RENAC), Argentina.
Abstract:
Mycophenolate mofetil is a widely prescribed immunosuppressive agent for transplant patients and autoimmune diseases. Potential teratogenic effects after in utero exposure to mycophenolate mofetil has been described in human clinical observations. The complete clinical pattern is still being delineated. We present four newborns with esophageal atresia and other congenital anomalies, prenatally exposed to mycophenolate mofetil during the first trimester. Two of the cases had other defects related to the embryopathy: microtia, eye abnormalities and oral clefts. Two cases did not show major craniofacial anomalies. We propose that esophageal atresia with or without tracheoesophageal fistula is a feature of mycophenolate embryopathy even without the presence of other major craniofacial anomalies. The human teratogenicity of MMF is reinforced by this report, and the current contraceptive recommendations about its use in fertile women are stressed.
Insights
Mycophenolate mofetil exposure in early pregnancy may cause esophageal atresia in newborns. This immunosuppressant
Area of Science:
- Immunology
- Teratology
- Developmental Biology
Background:
- Mycophenolate mofetil (MMF) is an immunosuppressant used in organ transplantation and autoimmune diseases.
- Previous studies have indicated potential teratogenic effects of MMF following in utero exposure.
- The full spectrum of MMF embryopathy is still under investigation.
Observation:
- This report details four newborns with esophageal atresia and other congenital anomalies.
- All four infants had prenatal exposure to MMF during the first trimester.
- Two cases exhibited additional defects consistent with MMF embryopathy, including microtia, ocular abnormalities, and oral clefts.
Findings:
- Esophageal atresia, with or without tracheoesophageal fistula, is proposed as a potential feature of MMF embryopathy.
- This association may be present even in the absence of other major craniofacial anomalies.
- The findings reinforce the teratogenicity of MMF in humans.
Implications:
- Clinicians should be aware of the potential for esophageal atresia in infants exposed to MMF during pregnancy.
- Current recommendations for contraception in women of childbearing potential using MMF are critical.
- Further research is needed to fully delineate the risks and clinical patterns of MMF embryopathy.
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