Anencephaly

Common Name(s)

Anencephaly

Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain.  Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. Reflex actions such as breathing and responses to sound or touch may occur.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Anencephaly" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Anencephaly" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Anencephaly" returned 73 free, full-text research articles on human participants. First 3 results:

Monoamniotic twins with one fetal anencephaly and cord entanglement diagnosed with three dimensional ultrasound at 14 weeks of gestation.
 

Author(s): Yun Sung Jo, Hyun Joo Son, Dong Gyu Jang, Narinay Kim, Guisera Lee

Journal: Int J Med Sci. 2011 ;8(7):573-6.

 

A 29-year-old pregnant woman with parity 0-0-0-0 was diagnosed with monoamniotic twin pregnancy discordant for anencephaly at 14 weeks gestation. Umbilical cord entanglement, which is an important cause of fetal death in monoamniotic twins, was confirmed by three-dimensional ultrasound. ...

Last Updated: 24 Oct 2011

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Do assisted conception twins have an increased risk for anencephaly?
 

Author(s): I Ben-Ami, Y Edel, O Barel, Z Vaknin, A Herman, R Maymon

Journal: Hum. Reprod.. 2011 Dec;26(12):3466-71.

 

The incidence rates of anterior neural tube defects, anencephaly and encephalocele appear increased among twins compared with singletons. The current study aimed to evaluate whether the etiology of this phenomenon is related to twinning, assisted reproductive technology (ART), or both.

Last Updated: 14 Nov 2011

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[Anencephaly related infant mortality in Argentina: spatial and temporal analysis (1998-2007)].
 

Author(s): Rubén Bronberg, Emma Alfaro, Estela Chaves, Alberto Andrade, Juan Gili, Jorge López Camelo, José Dipierri

Journal: Arch Argent Pediatr. 2011 Apr;109(2):117-23.

 

Analyze the spatial and temporal distribution of infant mortality by anencephaly in Argentina in relation with folic acid fortification phases.

Last Updated: 5 Apr 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Anencephaly" returned 5 free, full-text review articles on human participants. First 3 results:

Dilemmas in the management of twins discordant for anencephaly diagnosed at 11 + 0 to 13 + 6 weeks of gestation.
 

Author(s): H Vandecruys, K Avgidou, E Surerus, N Flack, K H Nicolaides

Journal: Ultrasound Obstet Gynecol. 2006 Oct;28(5):653-8.

 

To help develop an evidence-based approach to the best management of twin pregnancies discordant for anencephaly.

Last Updated: 2 Oct 2006

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Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literature.
 

Author(s): K I Lim, C Dy, D Pugash, K P Williams

Journal: Ultrasound Obstet Gynecol. 2005 Aug;26(2):188-93.

 

Monoamniotic twin pregnancy discordant for anencephaly (MATDA) is a rare occurrence with only seven prior reported cases. Selective termination has been advocated in managing discordant monoamniotic twins. We report two cases managed expectantly with good outcomes and review other ...

Last Updated: 28 Jul 2005

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[Maternal age and neural tube defects: evidence for a greater effect in spina bifida than in anencephaly].
 

Author(s): Alexandre R Vieira, Silvia Castillo Taucher

Journal: Rev Med Chil. 2005 Jan;133(1):62-70.

 

Recent evidence from birth order data suggest that maternal factors can differently influence anencephaly and spina bifida.

Last Updated: 15 Mar 2005

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetics of Spina Bifida and Anencephaly
 

Status: Recruiting

Condition Summary: Anencephaly; Acrania

 

Last Updated: 5 Mar 2014

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Genetics of Neural Tube Defects
 

Status: Recruiting

Condition Summary: Neural Tube Defects

 

Last Updated: 2 Dec 2010

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