The etiopathogenic and morphological spectrum of anencephaly: a comprehensive review of literature
Autor: | Irina Stavarache, Monica Cirstoiu, Maria Narcisa Neamţu, Octavian Munteanu, Florin Filipoiu, Roxana Elena Bohîlţea, Ovidiu Gabriel Bratu, Tiberiu Augustin Georgescu, Gabriela Iorgulescu |
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Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
Male Embryology Physiology PDGFRA Review 030105 genetics & heredity Pathology and Forensic Medicine 03 medical and health sciences folic acid 0302 clinical medicine Anencephaly medicine Humans genetic polymorphism Family history Pregnancy 030219 obstetrics & reproductive medicine Polymorphism Genetic biology business.industry Neural tube Cell Biology General Medicine medicine.disease medicine.anatomical_structure Neurulation Methylenetetrahydrofolate reductase Etiology biology.protein Female business Developmental Biology |
Zdroj: | Romanian Journal of Morphology and Embryology |
ISSN: | 2066-8279 |
Popis: | Anencephaly is a severe malformation of the central nervous system (CNS), being one of the most common types of neural tube defects. It is defined as total or partial absence of the calvarium, with absence of the brain. Anencephaly has an incidence of 1 to 5 in every 1000 births, and the mortality rate is 100% during intrauterine life or within hours or days after birth. The etiology of anencephaly remains unclear, but various maternal-related environmental and genetic risk factors have been reported, which include diabetes, obesity, exposure to different drugs or toxins, genetic polymorphisms and mutations, as well as positive family history for neural tube defects. One of the most important nutritional factors in the development of anencephaly is folate deficiency. Methylenetetrahydrofolate reductase (MTHFR) gene codes the enzyme involved in the intracellular metabolism of folic acid; the 677C-T polymorphism of this gene causes the thermolability of the enzyme and decreased enzymatic activity, which is also dependent of folate plasmatic level. Etiopathogenesis of anencephaly includes several mutations in various other genes, such as: platelet-derived growth factor receptor alpha (PDGFRA), cadherin epidermal growth factor (EGF) laminin G (LAG) seven-pass G-type receptor 1 (CELSR1), Vang-like 1 (VANGL1) and Vang-like 2 (VANGL2), the last two being involved in the process of neurulation. Screening tests include maternal serum alpha-fetoprotein level and ultrasound (US) examination. During the first trimester US screening, anencephaly is now detected in all cases, but in order to decrease the complication rate of pregnancy termination, the diagnosis should be established as soon as possible, during the pregnancy confirmation US. We conclude that given that anencephaly is a severe malformation of the CNS, morphological characterization could improve the screening by US that is mandatory in the first trimester in order to plan the best, safe and early management. |
Databáze: | OpenAIRE |
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