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Prenatal Diagnosis of an Extremely Rare Neurological Disease

  • Cristina-Crenguta Albu
  • Dinu-Florin Albu
Cite this:
Cristina-Crenguta Albu, & Dinu-Florin Albu. (2019). Prenatal Diagnosis of an Extremely Rare Neurological Disease . Journal of Medical Biomedical and Applied Sciences, 7(12), 300–302. https://doi.org/10.15520/jmbas.v7i12.202
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Abstract

We report one clinical case of a 29-year-old, Caucasian woman who is pregnant for the first time. Ultrasound examination showed a singleton fetus with porencephaly. Amniocentesis was done, and the fetal chromosomal analysis revealed a fetus with normal karyotype: 46,XY. After a complex and very difficult genetic counselling the parents opted to terminate the pregnancy. The autopsy confirm the prenatal ultrasound diagnosis.

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