Molecular aspects of genetic diseases that affect the nervous system are in the focus of scientific interest investigators from many fields of medicine and the knowledge of genetic abnormalities as well as phenotypic heterogeneity is rapidly expanding. This review is aimed to provide clinician's practical insight into molecular aspects of certain brain abnormalities and disorders based on prenatal ultrasound assessment and clinical findings. Additionally some risk determinants are included in order to elucidate its contribution to molecular mechanism underlying the disease development. Making a specific diagnosis of a genetically determined neurological disorder or defects requires access to a laboratory that can assist in arranging for appropriate testing to be carried out. Therefore this review contains technological aspects of molecular genetic testing, international guidelines and policies related to genetic testing and recommendation for application in clinical medicine.
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