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.

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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