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.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 87 free, full-text research articles on human participants. First 3 results:

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil.
 

Author(s): Emanuele Pelizzari, Carolina Melendez Valdez, Jamile dos Santos Picetti, André Campos da Cunha, Cristine Dietrich, Paulo Renato Krahl Fell, Luciano Vieira Targa, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa

Journal: Sao Paulo Med J. ;133(2):101-8.

 

Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly.

Last Updated: 28 May 2015

Go To URL
MicroRNAs function primarily in the pathogenesis of human anencephaly via the mitogen-activated protein kinase signaling pathway.
 

Author(s): W D Zhang, X Yu, X Fu, S Huang, S J Jin, Q Ning, X P Luo

Journal:

 

Anencephaly is one of the most serious forms of neural tube defects (NTDs), a group of congenital central nervous system (CNS) malformations. MicroRNAs (miRNAs) are involved in diverse biological processes via the post-transcriptional regulation of target mRNAs. Although miRNAs play ...

Last Updated: 17 Mar 2014

Go To URL
Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET.
 

Author(s): Chih-Ping Chen, Ming-Chao Huang, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2013 Jun;52(2):297-9.

 

Last Updated: 6 Aug 2013

Go To URL

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 6 free, full-text review articles on human participants. First 3 results:

Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature.
 

Author(s): Candice Y Johnson, Margaret A Honein, W Dana Flanders, Penelope P Howards, Godfrey P Oakley, Sonja A Rasmussen

Journal: Birth Defects Res. Part A Clin. Mol. Teratol.. 2012 Nov;94(11):857-63.

 

In regions where prenatal screening for anencephaly and spina bifida is widespread, many cases of these defects are diagnosed prenatally. The purpose of this study was to estimate the frequency of termination of pregnancy (TOP) following prenatal diagnosis of anencephaly or spina ...

Last Updated: 19 Nov 2012

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetics of Spina Bifida and Anencephaly
 

Status: Recruiting

Condition Summary: Anencephaly; Acrania

 

Last Updated: 26 Aug 2015

Go to URL
Genetics of Neural Tube Defects
 

Status: Recruiting

Condition Summary: Neural Tube Defects

 

Last Updated: 2 Dec 2010

Go to URL