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Anencefalia - Symptom

Nombres alternativos

Aprosencefalia con cráneo abierto

Síntomas:

  • Ausencia de cráneo
  • Ausencia de cerebro (los hemisferios cerebrales y el cerebelo)
  • Anomalías en los rasgos faciales
  • Defectos cardíacos

Pruebas y exámenes:

Se hace una ecografía durante el embarazo para confirmar el diagnóstico. Ésta puede revelar la presencia de demasiado líquido en el útero, una afección conocida como polihidramnios.

Otros exámenes que se puede realizar en la madre embarazada son:

  • Amniocentesis (para buscar incrementos en los niveles de alfa fetoproteína)
  • Niveles de alfa fetoproteína (los niveles elevados sugieren un defecto en la formación del tubo neural)
  • Nivel de estriol en orina
También se puede hacer un examen de ácido fólico en suero antes del embarazo
  • Reviewed last on: 5/1/2011
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 592.

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