Anencephaly: Difference between revisions

Anencephaly
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Absence of a major portion of the brain, skull, and scalp
Complications	Stillbirth, death shortly after birth
Onset	Congenital
Duration	Permanent
Types	N/A
Causes	Neural tube defect
Risks	Folic acid deficiency, genetic factors, environmental factors
Diagnosis	Prenatal diagnosis via ultrasound or amniocentesis
Differential diagnosis	Microcephaly, encephalocele
Prevention	Folic acid supplementation before and during early pregnancy
Treatment	Supportive care
Medication	N/A
Prognosis	Incompatible with life
Frequency	1 in 4,600 births
Deaths	Nearly all affected infants

Latest revision as of 14:04, 4 April 2025

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Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th day of pregnancy, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain - the largest part of the brain consisting mainly of the cerebrum - which is responsible for thinking and coordination. The remaining brain tissue is often exposed - not covered by bone or skin.

Effects[edit]

Infants born with anencephaly are usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brainstem, which controls autonomic and regulatory function, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as respiration (breathing) and responses to sound or touch may occur. The disorder is one of the most common disorders of the fetal central nervous system.

Lifespan[edit]

Most of the people who suffer of anencephaly die in the womb of their mother, during childbirth or in the next few hours after the have exited the mother's body. Although in some cases, it has been known that certain babies have lasted a week and a half, and the current record of lifespan is of twelve years.

Treatments[edit]

There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most anencephalic babies do not survive birth. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth. Anencephaly can often be diagnosed before birth through an ultrasound examination. The maternal serum alpha-fetoprotein (AFP screening) and detailed fetal ultrasound can be useful for screening for neural tube defects such as spina bifida or anencephaly. In almost all cases anencephalic infants are not aggressively resuscitated since there is no chance of the infant ever achieving a conscious existence. Instead, the usual clinical practice is to offer hydration, nutrition and comfort measures and to "let nature take its course". Artificial ventilation, surgery (to fix any co-existing congenital defects), and drug therapy (such as antibiotics) are usually regarded as being pointless. Some clinicians see no point in even providing nutrition and hydration, arguing that euthanasia is morally and clinically appropriate in such cases.

Rate of occurrence[edit]

In the United States, approximately 1,000 to 2,000 babies are born with anencephaly each year. Female babies are more likely to be affected by the disorder. About 95% of women who learn that they will have an anencephalic baby choose to have an abortion. Of the remaining 5%, about 55% are stillborn. The rest usually live only a few hours or days.

Cause[edit]

The cause of anencephaly is unknown. Neural tube defects do not follow direct patterns of heredity. Studies show that a woman who has had one child with a neural tube defect such as anencephaly, has about a 3% risk to have another child with a neural tube defect. This risk can be reduced to about 1% if the woman takes high dose (4mg/day) folic acid before and during pregnancy. It is known that women taking certain medication for epilepsy and women with insulin dependent diabetes have a higher chance of having a child with a neural tube defect. Genetic counseling is usually offered to women at a higher risk of having a child with a neural tube defect to discuss available testing. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce, although not eliminate, the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily, especially those attempting to conceive or who may possibly conceive. It is foolhardy to wait until pregnancy has begun, since by the time a woman knows she is pregnant, the critical time for the formation of a neural tube defect has usually already passed. A physician may prescribe even higher dosages of folic acid (4 mg/day) for women who have had a previous pregnancy with a neural tube defect.

External links[edit]

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@@ Line 1: / Line 1: @@
-{{SI}}
+{{SI}}<br>
+{{Infobox medical condition
+| name    = Anencephaly
+| image     = [[File:Anencephaly-web.jpg|alt=Anencephaly]]
+| caption   = Infant with anencephaly
+| field     = [[Neurology]], [[Pediatrics]]
+| symptoms    = Absence of a major portion of the [[brain]], [[skull]], and [[scalp]]
+| complications = [[Stillbirth]], [[death]] shortly after birth
+| onset     = [[Congenital disorder|Congenital]]
+| duration    = [[Permanent]]
+| causes    = [[Neural tube defect]]
+| risks     = [[Folic acid deficiency]], [[genetic factors]], [[environmental factors]]
+| diagnosis   = [[Prenatal diagnosis]] via [[ultrasound]] or [[amniocentesis]]
+| differential  = [[Microcephaly]], [[encephalocele]]
+| prevention  = [[Folic acid]] supplementation before and during early [[pregnancy]]
+| treatment   = [[Supportive care]]
+| prognosis   = [[Incompatible with life]]
+| frequency   = 1 in 4,600 [[birth]]s
+| deaths    = Nearly all affected infants
+}}
 [[File:Anencephaly-web.jpg|Anencephaly|thumb]]
-<!--T:2-->
 '''Anencephaly''' is a [[cephalic disorder]] that results from a [[neural tube defect]] that occurs when the cephalic (head) end of the neural tube fails to close, usually between the 23rd and 26th day of [[pregnancy]], resulting in the absence of a major portion of the brain, skull, and [[scalp]]. [[Infant]]s with this disorder are born without a [[forebrain]] - the largest part of the brain consisting mainly of the [[telencephalon|cerebrum]] - which is responsible for thinking and coordination. The remaining brain tissue is often exposed - not covered by bone or skin.
+==Effects==
-==Effects== <!--T:3-->
 Infants born with anencephaly are usually [[blindness|blind]], [[deafness|deaf]], [[unconscious]], and unable to feel [[pain]]. Although some individuals with anencephaly may be born with a rudimentary [[brainstem]], which controls [[autonomic function|autonomic]] and [[regulatory function]], the lack of a functioning cerebrum permanently rules out the possibility of ever gaining [[consciousness]]. [[Reflex]] actions such as respiration (breathing) and responses to sound or touch may occur. The disorder is one of the most common disorders of the fetal central nervous system.
+==Lifespan==
-==Lifespan== <!--T:4-->
 Most of the people who suffer of anencephaly die in the [[womb]] of their mother, during [[childbirth]] or in the next few hours after the have exited the mother's body. Although in some cases, it has been known that certain babies have lasted a week and a half, and the current record of lifespan is of twelve years.
+==Treatments==
-==Treatments== <!--T:5-->
 There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most anencephalic babies do not survive birth. If the infant is not [[stillborn]], then he or she will usually die within a few hours or days after birth. Anencephaly can often be diagnosed before birth through an [[ultrasound]] examination. The maternal serum [[alpha-fetoprotein]] ([[AFP screening]]) and detailed fetal ultrasound can be useful for screening for neural tube defects such as [[spina bifida]] or anencephaly.
-<!--T:6-->
 In almost all cases anencephalic infants are not aggressively [[resuscitation|resuscitated]] since there is no chance of the infant ever achieving a conscious existence. Instead, the usual clinical practice is to offer [[hydration]], [[food|nutrition]] and comfort measures and to "let nature take its course". Artificial ventilation, surgery (to fix any co-existing congenital defects), and drug therapy (such as [[antibiotics]]) are usually regarded as being pointless. Some clinicians see no point in even providing nutrition and hydration, arguing that [[euthanasia]] is [[morality|morally]] and clinically appropriate in such cases.
+==Rate of occurrence==
-==Rate of occurrence== <!--T:7-->
 In the [[United States]], approximately 1,000 to 2,000 babies are born with anencephaly each year. Female babies are more likely to be affected by the disorder. About 95% of women who learn that they will have an anencephalic baby choose to have an [[abortion]]. Of the remaining 5%, about 55% are stillborn. The rest usually live only a few hours or days.
+==Cause==
-==Cause== <!--T:8-->
 The cause of anencephaly is unknown. Neural tube defects do not follow direct patterns of [[heredity]].  Studies show that a woman who has had one child with a neural tube defect such as anencephaly, has about a 3% risk to have another child with a neural tube defect.  This risk can be reduced to about 1% if the woman takes high dose (4mg/day) [[folic acid]] before and during pregnancy.
-<!--T:9-->
 It is known that women taking certain medication for [[epilepsy]] and women with insulin dependent diabetes have a higher chance of having a child with a neural tube defect.  [[Genetic counseling]] is usually offered to women at a higher risk of having a child with a neural tube defect to discuss available testing.
-<!--T:10-->
 Recent studies have shown that the addition of [[folic acid]] to the [[diet (nutrition)|diet]] of women of child-bearing age may significantly reduce, although not eliminate, the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4&nbsp;mg of folic acid daily, especially those attempting to conceive or who may possibly conceive. It is foolhardy to wait until pregnancy has begun, since by the time a woman knows she is pregnant, the critical time for the formation of a neural tube defect has usually already passed.  A physician may prescribe even higher dosages of folic acid (4&nbsp;mg/day) for women who have had a previous pregnancy with a neural tube defect.
 == External links == <!--T:11-->
-* [http://www.obgyn.net/us/cotm/0006/Exencephaly-Anencephaly.htm Exencephaly – Anencephaly Sequence and its Sonographic Features]
+* [http://www.obgyn.net/us/cotm/0006/Exencephaly-Anencephaly.htm Exencephaly ‚Äì Anencephaly Sequence and its Sonographic Features]
 * [http://www.neuropsiconews.org.br/atlas/cns_058.htm Anencephaly]
 * [http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=25 Images of Anencephaly (Warning: Contains graphic medical images)]

Anencephaly

Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Absence of a major portion of the brain, skull, and scalp
Complications	Stillbirth, death shortly after birth
Onset	Congenital
Duration	Permanent
Types	N/A
Causes	Neural tube defect
Risks	Folic acid deficiency, genetic factors, environmental factors
Diagnosis	Prenatal diagnosis via ultrasound or amniocentesis
Differential diagnosis	Microcephaly, encephalocele
Prevention	Folic acid supplementation before and during early pregnancy
Treatment	Supportive care
Medication	N/A
Prognosis	Incompatible with life
Frequency	1 in 4,600 births
Deaths	Nearly all affected infants