User:Mr. Ibrahem/Anencephaly
| Anencephaly | |
|---|---|
 | |
| Illustration of an anencephalic fetus | |
| Specialty | Medical genetics; pediatrics |
| Symptoms | Blind, deaf, unconscious, unable to feel pain[1] |
| Usual onset | Embryonic development[2] |
| Risk factors | Folate deficiency, antiepileptic medication, diabetes, excessive vitamin A, hyperthermia during pregnancy[2] |
| Diagnostic method | Before birth: Suspected based on high levels of alpha fetoprotein in the mother, confirmed by ultrasound[2] After birth: Examination[2] |
| Prevention | Folic acid supplementation[2] |
| Treatment | Supportive care[1] |
| Prognosis | Extremely poor[1] |
| Frequency | 1 in 7,500 births (USA)[3] |
Anencephaly is the absence of most of the brain and skull as a result of issues during early development.[2] Babies with the condition are blind, deaf, unconscious, and unable to feel pain.[1] Reflexes such as breathing and responses to sound or touch may be present.[1]
It is believed to result from a number of factors including folate deficiency, antiepileptic medication, diabetes, excessive vitamin A, and hyperthermia during pregnancy.[2] It is a type of neural tube defect.[2] The underlying mechanism involved failure of closure of the head end of the neural tube.[1] Diagnosis before birth may be suspected based on high levels of alpha fetoprotein in the mother and confirmed by ultrasound.[2]
Prevention is by supplementation of folic acid.[2] The anti epileptic medication, valproate should be avoided during pregnancy, if possible.[2] Treatment involves supportive care.[1] If the baby is born alive, most die within a few hours or days of birth.[1] About 1 in 7,500 births are affected in the United States.[3]
References[edit]
- ^ a b c d e f g h "Anencephaly Information Page | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Retrieved 10 January 2021.
- ^ a b c d e f g h i j k Tafuri, SM; Lui, F (January 2020). "Embryology, Anencephaly". PMID 31424828.
{{cite journal}}: Cite journal requires|journal=(help) - ^ a b "Anencephaly". NORD (National Organization for Rare Disorders). Retrieved 10 January 2021.