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Anencephaly and its Associated Malformations

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Ravikiran Ashok Gole
Ravikiran Ashok Gole
Ravikiran Ashok Gole
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Pritee Madan Meshram
Pritee Madan Meshram
Pritee Madan Meshram
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Shanta Sunil Hattangdi
Shanta Sunil Hattangdi
Shanta Sunil Hattangdi
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Abstract

Introduction: Anencephaly is a serious neural tube defect in which parts of the brain and skull are not developed. But apart from this it is also associated with other malformations which are not related to neural tube in development. Aim: The present study was undertaken to find the associated congenital malformations in western region of India and establish a aetiological correlation. Materials and methods: The study was conducted using 20 anencephalic fetuses. Results: Nearly 80% of fetuses had associated malformations. Spina bifida was seen in 9 fetuses and cleft palate in 8. Female fetus with cleft palate had other severe associated gastrointestinal and skeletal malformation. Conclusion: In cases of anencephaly other associated malfor-mations like spina bifida and cleft palate are commonly seen.
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Journal of Clinical and Diagnostic Research. 2014 Sep, Vol-8(9): AC07-AC09 77
DOI: 10.7860/JCDR/2014/10402.4885 Original Article
Keywords: Anencephaly, Cleft palate, Clubbed foot, Spina bifida
INTRODUCTION
Failure of closure of the cranial neuropore during the fourth week of
development results in the abnormal vascularisation of the embryonic
exencephalic brain [1]. The nervous tissue subsequently undergoes
degeneration and brain remains as a spongy vascular mass with
some hind brain structures [2]. Previously called as anencephaly
(without brain), it is now called as Meroanencephaly as some
functioning neural tissue is always present [3]. As Meroanencephaly
is a lethal malformation the research on presence of other associated
malformations has largely remained restricted. Ballantyne (1904)
[4] as well as David and Illingworth [5] associated diapharagmatic
hernia with anencephaly. British Perinatal Mortality Survey [6] of
1958 first stressed on registering the associated malformation in
anencephalics. T.J.David [7] tabulated the associated malformations
and found spina bifida to be the most common. Many researchers
found that the most common associated malformations differed
according to the geographical location [8,9]. According to David TJ
cardiovascular defects were common in Lancashire while urinary
tract defects were common in the Bristol [10]. Apart from CNS
malformations gastrointestinal and skeletal abnormalities were the
most common according to C Pandurang [11] in a study conducted
in India.
MATERIALS AND METHODS
The study was conducted between January 2013 to March 2014
in Lokmanya Tilak Municipal Medical College and general hospital
which is a major tertiary care hospital for obstetrics in western India.
Ethical clearance was obtained by the institutional ethical committee.
Twenty anencephalic fetuses were dissected in the Anatomy
department of the institute after obtaining informed consent.
The cases originated from still birth, spontaneous abortion and
therapeutic abortion. The gestational age was in the range of 16 to
34 weeks. There was no history of diabetes, obesity and infections
in the mothers. There was no exposure to any teratogenic drugs.
All mothers had received the recommended 0.5mg of folic acid
supplementation. The findings were done by external examination,
photography and internal examination. Internal examination was
done for abdominal and genitourinary viscera only.
Anatomy Section
Anencephaly and its
Associated Malformations
ABSTRACT
Introduction: Anencephaly is a serious neural tube defect in
which parts of the brain and skull are not developed. But apart
from this it is also associated with other malformations which
are not related to neural tube in development.
Aim: The present study was undertaken to find the associated
congenital malformations in western region of India and
establish a aetiological correlation.
Materials and Methods: The study was conducted using 20
anencephalic fetuses.
Results: Nearly 80% of fetuses had associated malformations.
Spina bifida was seen in 9 fetuses and cleft palate in 8.
Female fetus with cleft palate had other severe associated
gastrointestinal and skeletal malformation.
Conclusion: In cases of anencephaly other associated malfor-
mations like spina bifida and cleft palate are commonly seen.
The results were recorded according to the following parameters.
Facial features: - Cleft lip, cleft palate.
CNS: - Spina bifida.
GIT: - Absence or underdeveloped organ.
Genito urinary system: - Hypospadias, penile hypoplasia, renal
agenesis.
Skeletal system: - Clubbed foot, clubbed hands.
RESULTS
Associated malformations were seen in 16 out of 20 fetuses. There
were 12 female and 8 male fetuses. Spina bifida was the most
common anomaly followed by facial anomalies which included cleft
lip and cleft palate. The details are given in [Table/Fig-1].
DISCUSSION
Anencephaly is associated with anomalies of not only central
nervous system but other systems as well. Previous studies have
mentioned a wide range for the percentage of fetus with associated
malformation. Tan et al., [12] recorded 9.4 % while David TJ
[10] recorded 84%. The present study recorded 80% fetus with
associated malformations. There were more number of female
fetuses (12 cases) as compared to males (8 cases). The percentage
RAVIKIRAN ASHOK GOLE1, PRITEE MADAN MESHRAM2, SHANTA SUNIL HATTANGDI3
Anomaly No of
cases
Percentage Remarks
Spina bifida 9 45 Cervical region 7 cases
Lumbar region 1 case.
Cleft Palate 8 40 7 male
1 female
Cleft lip 5 25 All has associated cleft palate
Clubbed foot and clubbed
hands
7 35 5 males
2 females
Genital abnormalities 2 cases 10 2 males has Hypospadias
No abnormality in females
Gastrointestinal system 2 cases 10 1 case gastroschisis. 1 case
omphalocele.
[Table/Fig-1]: Showing the distribution of number of cases for different anamoly
Ravikiran Ashok Gole et al., Anencephaly and its Associated Malformations www.jcdr.net
Journal of Clinical and Diagnostic Research. 2014 Sep, Vol-8(9): AC07-AC09
88
of female fetuses was 60%. All the previous studies have proved
that the females outnumber males in cases of anencephaly. The
female preponderance noticed by previous authors were David TJ
[10] at 66%, Panduranga [11] at 56% Aruna [13] recorded 55%.
In the present study the commonest anomaly associated with
anencephaly was spina bifida (9 cases). Associated malformations
were more common in cases with spina bifida. Even though spina
bifida is more common in lumbar region in general population,
craniospinal rachischisis [Table/Fig-2] of the cervical region was
found to be commoner in anencephalic fetuse [14]. Craniospinal
rachischisis is the most severe form of spina bifida cystica. In this
defect the spine lies widely open and the neural plate has spread
out on to the surface [15]. The thoracolumbar type spina bifida
[Table/Fig-3] was seen in only one case.
Facial abnormalities like cleft palate were seen in 8 cases of which 7
were males and one female. Suggesting a correlation between cleft
palate and male sex. Earlier studies have also reported cleft lip and
palate to be more common in male anencephalic fetus [10,11,13].
Cleft lip was found in 5 cases in association with cleft palate.
The genital abnormalities were seen in two male cases in the form
of Hypospadias. The remaining genital development was normal.
There was no genital abnormality detected in females. Studies done
by Tan et al.,[12], Nielsen et al.,[16] and Golalipour et al.,[9] did not
find any abnormality in the genital system. David et al found 0.6%
cases with abnormalities in the genital system and that too in male
fetuses only. One female fetus which had marked deformities such
as cleft lip, cleft palate, gastroschisis, clubbed feet and hands also
showed normal genital development [Table/Fig-4]. One case of
omphalocele was seen [Table/Fig-5]. No abnormality was detected
in the urinary system.
Skeletal deformities like clubbed hands and clubbed feet were
present in 5 males and 2 female fetuses. All the 5 male cases had
associated cleft palate. Skeletal abnormalities found in previous
studies were in the range of 1.7% by David TJ [10], 14.5% Vare
et al.,[17] to 20 % by Tan et al.,[12]. The present study recorded a
higher number of skeletal abnormalities at 35%.
The cause of anencephaly is still a disputed entity but the defect is
failure of closure of rostral neuropore. Anencephaly, even though a
defect of the neural tube can affect many other systems selectively
[18]. The intake of 0.5mg of folic acid [19] during the course of
pregnancy reduces the risk of anencephaly but does it have a similar
effects on other anomalies is poorly understood. The presence
of spina bifida can be correlated embryologically to the defect in
closure of the neuropore. Cleft palate and lip might occur due to the
defective neural crest cells. MTHFR gene has been associated with
anencephaly and orofacial defects [20] but its increased frequency
in males is poorly understood. Many studies have tried to find the
genetic association of anencephaly. LD Botto [21] reported MTHFR
gene located on chromosome 1 to be associated with neural tube
defects. But EC Melvin [22] failed to reach a consensus on the
involvement of p53, PAX3 and MTHFR gene in neural tube defects.
CONCLUSION
Anencephaly is common in females. Associated abnormalities were
seen in 80% of cases in the present study. Commonest abnormality
was spina bifida. Describing the associated malformations in
anencephaly as described in present study is not only of academic
and research interest but also helpful to radiologists for correct
interpretation and diagnosis. The strong association between cleft
palate and male fetus should be considered during the diagnosis.
The presence of associated abnormality like spina bifida, cleft
palate, clubbed foot, clubbed hands and gastroschisis points to the
fact that anenchepaly consists of more than one aetiological entity.
Studies are required at molecular level to find its association with
other anomalies.
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[Table/Fig-2]: Fetus with craniospinal rachischisis and kyphosis of thoracic spine [Table/Fig-3]: Fetus with thoracolumbar spina bifida [Table/Fig-4]: Fetus with gastroschisis,
cleft palate, cleft lip and clubbed feet [Table/Fig-5]: Fetus with omphalocele
www.jcdr.net Ravikiran Ashok Gole et al., Anencephaly and its Associated Malformations
Journal of Clinical and Diagnostic Research. 2014 Sep, Vol-8(9): AC07-AC09 99
PARTICULARS OF CONTRIBUTORS:
1. Assistant Professor, Department of Anatomy, L.T.Medical College & General Hospital, College Building, 3rd Floor, LTMMC & GH, Sion Hospital, Sion, Mumbai, India.
2. Assistant Professor, Department of Anatomy, L.T.Medical College & General Hospital, College Building, 3rd Floor, LTMMC & GH, Sion Hospital, Sion, Mumbai, India.
3. Professor and Head, Department of Anatomy, L.T.Medical College & General Hospital, College Building, 3rd Floor, LTMMC & GH, Sion Hospital, Sion, Mumbai, India.
NAME, ADDRESS, E-MAIL ID OF THE CORRESPONDING AUTHOR:
Dr. Ravikiran Ashok Gole,
Assistant Professor, Department of Anatomy, College Building, 3rd Floor, LTMMC&GH,
Sion Hospital, Sion, Mumbai-400022, India.
Phone : 09769200508, E-mail : ravikiran.gole@gmail.com
FINANCIAL OR OTHER COMPETING INTERESTS: None.
Date of Submission: Jun 20, 2014
Date of Peer Review: Jul 17, 2014
Date of Acceptance: Jul 21, 2014
Date of Publishing: Sep 20, 2014
[17] Vare AM, Bansal PC. Anencephaly: An anatomical study of 41 anencephalics.
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Polymorphism in Orofacial Clefts Etiology: An Individual Participant Data Pooled-
Analysis. Clinical and Molecular Teratology. 2013;97(8):509-14.
[21] Botto LD, Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and
congenital anomalies: a HuGE review. Am J Epidemiol. 2000;151(9):862-77.
[22] Melvin EC, et al. Genetic Studies in Neural Tube Defects. Pediatr Neurosurg.
2000;32:1–9.
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Full-text available
  • Oct 2019
In children the appearance of neurological disorders is associated with embryonic development until early childhood, these imply an important socioeconomic burden for the family nucleus, as well as for the health sector. It is important to have clear knowledge about the most frequent neurological alterations in this age group, which affect the development of the nervous system and the embryological mechanisms that are compromised. Among these diseases, there are congenital diseases such as anencephaly, holoprosencephaly, and spina bifida, such as those common in central nervous system group alterations. There are also other pathologies linked to the cranial nerves and the autonomic nervous system, as well as childhood cerebral palsy that is a group of disorders that affect the psychomotor child development associated with lesions during brain development with various risk factors such as genetic malformations, peritnatal asphyxia, among others. Other types of diseases that affect the nervous system are tumors, the most frequent being medublastoma, glioma, and ependymoma. Similarly, seizures constitute a broad heterogeneous syndrome that can be caused by some of the previously exposed diseases or be found as a unique condition, in general this type of disease generates a burden on different levels for both children and their caregivers. Therefore, prevention or timely diagnosis is essential through assertive pregnancy control since they are conditions that can be detected during pregnancy. Keywords: Congenital Diseases, Seizures, Child Cerebral Palsy, Central Nervous System, Tumors.
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Anencephaly: A pathological study of 41 cases
Article
Full-text available
  • Jan 2012
Background : Anencephaly is a lethal neural tube defect which is due to the defective closure of rostral pore of neural tube. In more than 50% of cases it is associated with other systemic anomalies. Hence this study was undertaken to assess pathological parameters associated with anencephaly in particular attention to associated systemic anomalies. Materials and Methods: It is a study on 41 anencephaly fetuses conducted in the Department of Pathology. The period of study is from January 2001 to December 2011. Results: Out of 41 cases, 30 (73%) cases showed presence of systemic anomalies, 48.5% of the cases were observed in primigravida. Most common associated anomaly was spina bifida followed by gastrointestinal anomalies. Conclusion: Pathological examination of the abortus is essential to document the associated anomalies.
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Prevalence of Anencephaly in Gorgan, Northern Iran
Article
Full-text available
  • Jan 2010
Anencephaly is a neural tube defect incompatible with life. The aim of this prospective study was to determine the prevalence of anencephaly in Gorgan, northern Iran. During 1998 - 2005, 49,534 newborns at Dezyani hospital in Gorgan were screened for neural tube defects. Clinical and demographic data of the diagnosed cases were recorded in a pre-designed questionnaire for analysis. These data included sex, ethnicity, parental consanguinity, and residential area. The overall prevalence of neural tube defects and anencephaly were 28 and 12 per 10000 births, respectively. The prevalence of anencephaly was 11 and 12 per 10000 births in male and female newborns, respectively. Considering the parental ethnicity, the prevalence of anencephaly was 12, 16, and 7 per 10000 in Fars, Turkman, and Sistani ethnicity, respectively. The prevalence of anencephaly was 13.1/10000 in newborns with mothers aged >35 years. Consanguinity was seen in 36% of the parents. The highest rate of anencephaly occurred in 1999 (23/10000) and the least was in 2003 (2/10000). The most prevalent season for the occurrence of anencephaly was winter (16/10000). The present study indicated that the prevalence of anencephaly among Iranian newborns in northern Iran was higher than in the European population.
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Congenital malformation associated with anencephaly and iniencephaly
Article
Full-text available
  • Sep 1976
The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in those without. The most frequent single malformations were: hydronephrosis (8%), cleft palate (8%), diaphragmatic hernia (5%), exomphalos (5%), hare lip (4%), and horseshoe kidney (4%). It is suggested that the presence of other malformations in anencephaly or iniencephaly may imply some aetiological heterogeneity.
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Diaphragmatic hernia in the South-West of England
Article
Full-text available
  • Sep 1976
A retrospective anatomical, family, and epidemiological study was made of 143 patients (81 female and 62 male) with diaphragmatic hernia who were born in the south-west of England between 1943 and 1974. Thirty-nine cases were stillborn. Seventy-five per cent of patients had a left-sided diaphragmatic defect, 22% had a right-sided defect, and 3% had a bilateral defect. Fifty per cent of the patients had other congenital malformations, most frequently of the nervous system. No maternal age or birth order effect was noted. Cases of diaphragmatic hernia without other malformations had in general a normal fetal growth rate. Eight per cent of the cases were illegitimate. There were two pairs of twins discordant for diaphragmatic hernia, one pair being dizygotic and the other monozygotic. In no case of diaphragmatic hernia was there a relative affected with a diaphragmatic hernia. The most common type of diaphragmatic defect was a posterolateral hernia (92%), followed in frequency by an eventration of the diaphragm (5%), the least common defect being a retrocostosternal hernia (2%). Diaphragmatic hernia appears to be aetiologically as well as anatomically heterogeneous. In this series there were two cases of trisomy 18, one case of trisomy 21, one case trisomic for a small part of chromosome 20, and two cases with the Pierre Robin syndrome. It seems likely that diaphragmatic hernia is a non-specific consequence of several teratological processes.
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Studies in neural tube defects. I. Epidemiologic and etiologic aspects
Article
  • Apr 1987
  • Am J Med Genet
In the NIH Collaborative Perinatal Project, a prospective study of over 53,000 pregnant women and their offspring, 71 single-born children (13.33/10,000) were found to have a non-syndromal neural tube defect (NTD). A family history was present in only one case. The group of individuals with NTD was compared to a group of 400 randomly selected non-malformed control infants. Of over 50 maternal factors studied the following showed significant association with NTD in the offspring: diabetes mellitus; organic heart disease; lung disease; and diuretic, antihistamine, and sulfonamide use. The interval between the termination of the immediately previous pregnancy and the start of the proband pregnancy was significantly shorter in mothers of NTD children than in mothers of control infants. The risk for NTD was also significantly increased if the immediately previous pregnancy was a spontaneous abortion. There was no increased risk for NTDs among sibs of children with major malformations such as tracheo-esopha-geal “dysraphism,” cleft lip/palate, or renal agenesis. NTDs are apparently etiologically heterogeneous.
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Genetic Studies in Neural Tube Defects
Article
  • Apr 2000
  • PEDIATR NEUROSURG
Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families.
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Folic Acid Supplementation Use and the MTHFR C677T Polymorphism in Orofacial Clefts Etiology: An Individual Participant Data Pooled-Analysis
Article
  • Aug 2013
  • BIRTH DEFECTS RES A
BACKGROUND This study examines gene-environment interaction between the MTHFR C667T polymorphism and folic acid in the etiology of orofacial clefts (OFC). We used a pooled-analytical approach on four studies that used similar methods. METHODS We used logistic regression to analyze the pooled sample of 1149 isolated cases and 1161 controls. Fetal and maternal MTHFR C677T genotypes, and maternal periconceptional exposure to smoking, alcohol, vitamin containing folic acid and folic acid supplements were contrasted between the cleft types [non-syndromic clefts lip or without cleft palate (CL(P)) and non-syndromic cleft palate (CP)] and control groups. RESULTSThere was a reduced risk of CL(P) with maternal folic acid use (p=0.008; OR=0.70, 95% CI: 0.65-0.94) and with supplements containing folic acid (p=0.028, OR=0.80, 95% CI: 0.65-0.94). Maternal smoking increased the risk of both CL(P) (p<10 e-3; OR=1.62, 95% CI: 1.35-1.95) and CP (p=0.028; OR=1.38, 95% CI: 1.04-1.83). No significant risk was observed with either maternal or fetal MTHFR C677T genotypes. CONCLUSION This individual participant data (IPD) meta-analysis affords greater statistical power and can help alleviate the problems associated with aggregate-level data-sharing. The result of this IPD meta-analysis is consistent with previous reports suggesting that folic acid and smoking influence OFC outcomes. Birth Defects Research (Part A) 97:509-514, 2013. (c) 2013 Wiley Periodicals, Inc.
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