What is the role of lab testing in the workup of aplasia cutis congenita (ACC)?

Updated: Jul 31, 2018
  • Author: Joy Wan, MD, MSCE; Chief Editor: William D James, MD  more...
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No specific laboratory abnormalities are consistently found in aplasia cutis congenita (ACC). Abnormalities due to associated conditions may be present. Chromosome analysis or genetic testing may be indicated if a pattern of abnormalities suggests a genetic disorder.

Elevated alpha-fetoprotein levels in maternal serum and amniotic fluid, as well as elevated acetylcholinesterase in amniotic fluid, have been reported as possible early signs of aplasia cutis congenita. However, these tests are neither sensitive nor specific and are not currently used for diagnosis. [59]

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