A meningomyelocele with normal intracranial signs on ultrasound and false-negative amniotic fluid alpha-fetoprotein and acetylcholinesterase

Obstet Gynecol Sci. 2014 May;57(3):223-7. doi: 10.5468/ogs.2014.57.3.223. Epub 2014 May 15.

Abstract

Neural tube defects are the major targets of prenatal diagnoses, along with Down syndrome. Prenatal diagnosis of spina bifida is possible at second trimester of gestation through α-fetoprotein and acetylcholinesterase biochemistry assays and ultrasound. In particular, the discovery of characteristic intracranial signs on ultrasound leads to a very high diagnosis rate. However, it is rare for spina bifida to present without intracranial signs while also showing normal values of maternal serum α-fetoprotein, amniotic fluid α-fetoprotein, and acetylcholinesterase. In our hospital, a fetus with spina bifida was delivered at 37+5 weeks' gestation by cesarean section, and was continually followed up over 2 years to date.

Keywords: Intracranial sign; Maternal serum alpha-fetoproteins; Meningocele; Meningocele repair; Spinal dysraphism.

Publication types

  • Case Reports