Anencephaly (Aprosencephaly)

A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)

Also Known As:

Networked: 440 relevant articles (4 outcomes, 24 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Spinal Dysraphism (Spina Bifida)
2.	Neural Tube Defects (Exencephaly)
3.	Diaphragmatic Hernia
4.	Hypercholesterolemia
5.	Spina Bifida Cystica (Spina Bifida Aperta)

Experts

1.	Shaw, Gary M: 12 articles (11/2014 - 07/2002)
2.	Oakley, Godfrey P: 10 articles (09/2015 - 01/2002)
3.	Canfield, Mark A: 10 articles (01/2014 - 01/2002)
4.	National Birth Defects Prevention Study: 9 articles (04/2015 - 01/2009)
5.	Carmichael, Suzan L: 7 articles (03/2014 - 10/2004)
6.	Bell, Karen N: 6 articles (10/2013 - 11/2004)
7.	Gregor, V: 6 articles (10/2012 - 11/2003)
8.	Sípek, A: 6 articles (10/2012 - 11/2003)
9.	Centers for Disease Control and Prevention (CDC): 6 articles (10/2007 - 10/2000)
10.	Yang, Wei: 5 articles (03/2014 - 03/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Anencephaly:

1.	Folic Acid (Vitamin M)FDA LinkGeneric 08/01/2012 - "We observed a protective effect on anencephaly risk only in mothers with 677TT genotype as serum folate levels increased." 08/01/2012 - "In terms of tertiles, mothers with 677TT genotype with serum folate levels in the upper tertile (>14·1 ng/ml) had a 95 % lower risk to have a child with anencephaly than mothers with serum folate levels in the first and second tertiles (P trend = 0·012). " 08/01/2012 - "The adjusted models show that the risk of anencephaly in mothers with 677TT genotype was reduced by 18 % (OR = 0·82; 95 % CI 0·72, 0·94) for each 1 ng/ml increment in serum folate. " 04/01/2011 - "The geographical distribution of anencephaly would guide the search for environmental/ genetic risk factors and strengthen primary prevention strategies, through mandatory fortification, folate intake and folic acid supplementation." 04/01/2011 - "The infant mortality rate attributable to anencephaly for Argentina, geographical regions, provinces and departments were estimated according to the different phases of mandatory fortification with folic acid. "
2.	Lipoproteins (Lipoprotein)IBA 12/01/1987 - "The rate of uptake, degradation, and the maximal binding of low-density lipoprotein was similar in skin fibroblasts of infants with anencephaly and normal subjects. " 12/01/1987 - "We compared the binding and metabolism of low-density lipoprotein by skin fibroblasts of fetuses with anencephaly and normal subjects. " 12/01/1987 - "The binding and metabolism of low-density lipoprotein by skin fibroblasts of fetuses and newborns with anencephaly." 12/01/1987 - "Since the control of production and clearance of plasma lipoproteins in utero is largely unknown, we sought to evaluate the effects of glucocorticosteroid (dexamethasone) treatment of developing fetuses and of chronic intrauterine hypercholesterolemia, due to fetal anencephaly, on newborn serum levels of apolipoprotein A-1 (Apo A-1), the major apoprotein of high density lipoproteins (HDL). "
3.	Apolipoprotein A-I (Apolipoprotein A1)IBA 12/01/1987 - "The effects of dexamethasone and anencephaly on newborn serum levels of apolipoprotein A-1." 12/01/1987 - "Since the control of production and clearance of plasma lipoproteins in utero is largely unknown, we sought to evaluate the effects of glucocorticosteroid (dexamethasone) treatment of developing fetuses and of chronic intrauterine hypercholesterolemia, due to fetal anencephaly, on newborn serum levels of apolipoprotein A-1 (Apo A-1), the major apoprotein of high density lipoproteins (HDL). "
4.	HDL LipoproteinsIBA 12/01/1987 - "Since the control of production and clearance of plasma lipoproteins in utero is largely unknown, we sought to evaluate the effects of glucocorticosteroid (dexamethasone) treatment of developing fetuses and of chronic intrauterine hypercholesterolemia, due to fetal anencephaly, on newborn serum levels of apolipoprotein A-1 (Apo A-1), the major apoprotein of high density lipoproteins (HDL). "
5.	Dexamethasone (Maxidex)FDA LinkGeneric 12/01/1987 - "The effects of dexamethasone and anencephaly on newborn serum levels of apolipoprotein A-1." 12/01/1987 - "Since the control of production and clearance of plasma lipoproteins in utero is largely unknown, we sought to evaluate the effects of glucocorticosteroid (dexamethasone) treatment of developing fetuses and of chronic intrauterine hypercholesterolemia, due to fetal anencephaly, on newborn serum levels of apolipoprotein A-1 (Apo A-1), the major apoprotein of high density lipoproteins (HDL). "
6.	ApoproteinsIBA 12/01/1987 - "Since the control of production and clearance of plasma lipoproteins in utero is largely unknown, we sought to evaluate the effects of glucocorticosteroid (dexamethasone) treatment of developing fetuses and of chronic intrauterine hypercholesterolemia, due to fetal anencephaly, on newborn serum levels of apolipoprotein A-1 (Apo A-1), the major apoprotein of high density lipoproteins (HDL). "
7.	alpha-Fetoproteins (AFP)IBA 01/01/1980 - "During this study we found a case of anencephaly in which the level of maternal AFP was significantly higher than the limits we had worked out." 01/01/2006 - "All cases of anencephaly had increased AFP levels. " 05/01/1995 - "Ultrasound screening for anencephaly achieved 100% sensitivity even in low risk pregnancies, compared with 92% for serum alpha-fetoprotein. " 01/01/1987 - "In six cases of anencephaly, sections from the margin of the cranial end of defective spinal cords at the aperture of the open lesion were also studied for AFP and GFAP. " 11/01/1984 - "Ultrasonography in an 18 week pregnancy selected for detailed scanning because of a single elevated maternal serum AFP result suggested the presence of anencephaly. "
8.	VitaminsIBA 01/01/1991 - "This pattern suggests that studies of effects of periconceptional vitamin treatment on risk of human neural tube defects should consider anencephaly and spina bifida separately. " 05/15/2001 - "They compared data on 1,242 infants with NTDs (spina bifida, anencephaly, and encephalocele) with data from a control group of 6,660 infants with malformations not related to vitamin supplementation. " 09/01/1996 - "After adjusting for maternal age, education, smoking status, alcohol use, chronic illness, and vitamin use, we found that, compared with average-weight women, obese women (pregravid body mass index greater than 29) had almost twice the risk of having an infant with spina bifida or anencephaly (odds ratio = 1.9; 95% confidence limits = 1.1, 3.4). " 01/01/2005 - "After adjusting for maternal ethnicity, age, education, smoking, alcohol use, and periconceptional vitamin use, obese women had substantially increased risks of delivering offspring with anencephaly (odds ratio=2.3; 95% confidence interval=1.2-4.3), spina bifida (2.8; 1.7-4.5), or isolated hydrocephaly (2.7; 1.5-5.0), but not holoprosencephaly (1.4; 0.5-3.8). " 12/01/2011 - "Odds ratios for anencephaly with nitrosatable drug exposure were reduced among women who also took daily vitamin supplements that contained vitamin C. "
9.	Estriol (Epiestriol)IBA 01/23/1998 - "The combination of abnormally elevated MSAFP and low estriol is highly predictive of NTD in particular anencephaly." 05/01/1979 - "Anencephaly and twins: prenatal ultrasound and estriol." 10/01/1998 - "Undetectable or very low unconjugated estriol (E3) levels in routine maternal serum screening are associated with steroid sulfatase deficiency, miscarriages, and anencephaly. " 01/23/1998 - "Combination of elevated maternal serum alpha-fetoprotein (MSAFP) and low estriol is highly predictive of anencephaly." 02/01/1980 - " If anencephaly can be diagnosed in X-ray and ultrasonic scan, with below normal estriol values and elevated alpha-fetoprotein levels, the indications for a eugenic abortion are fulfilled if the mother gives her informed consent."
10.	MicroRNAs (MicroRNA)IBA 02/01/2010 - "In this study, we show the presence of a specific miRNA expression profile from tissues of fetuses with anencephaly, one of the most severe forms of NTDs. " 01/01/2014 - "Our results, therefore, suggest that miRNA maladjustment mainly contributes to the etiopathogenesis of anencephaly via the MAPK signaling pathway." 02/01/2010 - "Our results suggest that miRNA dysregulation is possibly involved in the pathogenesis of anencephaly." 02/01/2010 - "Specifically, of these validated miRNAs, miR-126, miR-198, and miR-451 were up-regulated, while miR-9, miR-212, miR-124, miR-138, and miR-103/107 were down-regulated in the tissues of fetuses with anencephaly. " 02/01/2010 - "In comparison to healthy human fetal brain tissues, tissues from fetuses with anencephaly exhibited 97 down-regulated and 116 up-regulated miRNAs. "

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 04/01/1996 - "The results of this study suggest that, being the anencephaly the most commonly indications for the abortion, would be important to help the women bearers of anencephalic fetuses to consent taking the organs, using them for transplantations on children that necessitate them." 03/01/1991 - "In the USA an organization was established--The Medical Task Force on Anencephaly--for the purpose of offering guidelines on the ethical issues relating to anencephaly, especially in regard to the use of fetal organs in transplantation.(ABSTRACT TRUNCATED AT 250 WORDS)" 07/01/1990 - "Transplantation of organs from newborns with anencephaly." 04/01/1990 - "Transplantation of organs from newborns with anencephaly. " 10/01/1988 - "Several elements of anencephaly are discussed: problems of diagnosis, its declining prevalence and the effect of prenatal screening and subsequent abortion, the extent of neurological functioning and consciousness of anencephalic infants, their life span and cause of death, and the utility of organs for transplantation. "
2.	Induced Labor 06/01/1968 - "[The value of the study of anencephalia in the problem of induced labor]."
3.	Induced Abortion (Induced Abortions) 01/01/1993 - "Anencephaly was diagnosed, followed by prostaglandin induced abortion and fetotomy. " 05/01/1983 - "Diagnosed anencephaly accounted for two out of the three valid third-trimester induced abortions performed." 07/01/1997 - "[Anencephaly associated with uterine rupture during induced abortion. " 03/01/1991 - "Terminations were performed 1984-86 in at least 80% of total cases of anencephaly in 6/11 centres registering induced abortions, and in at least 40% of total cases of spina bifida in four centres. " 12/01/2010 - "Among the induced abortions the most common diagnoses were Down syndrome, anencephalus, Edwards syndrome, and congenital hydrocephalus. "
4.	Organ Transplantation 07/01/2008 - "Anencephaly and organ transplantation." 07/01/2000 - "Finally, the ethical aspects of these findings, as they relate to anencephaly and organ transplantation, are discussed." 01/01/1993 - "Anencephaly--organ transplantation?" 10/01/1991 - "The ethical issues concerning the use of fetal tissue as a source for organ transplantation has focused interest on anencephaly. "
5.	Prenatal Care 01/01/2007 - "Considering the clear correlation between anencephaly and pregnancy complications, precise prenatal care, early diagnosis and treatment are strongly indicated in order to avoid serious maternal complications." 12/01/1991 - "While 32% of primiparous women aged 18 booked for prenatal care at 21 weeks or more, there was no increase in anencephaly or spina bifida, which would have been detected by prenatal screening. " 05/01/2006 - "Mothers of 157 cases of anencephaly and 151 controls born during the period March 2000 to February 2001, were interviewed about their reproductive history and other additional factors, including socio-economic characteristics, prenatal care, use of tobacco and alcohol, presence of chronic diseases, acute illnesses and fever during the periconceptional period, and consumption of multivitamins and medicines during this period; mothers who reported no prior pregnancies were excluded from the analysis; 58 matched case-control pairs were used for the analysis. " 01/01/2005 - "Mothers of 151 cases of infants born with anencephaly and mothers of 151 control infants born during the period March 2000 to February 2001 were interviewed about their socioeconomic characteristics and other factors including reproductive history, use of prenatal care, use of tobacco and alcohol, fever during pregnancy, and folic acid supplementation. "