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Neural Tube Defects: A case report

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Bishnu Gautam at Ministry of Social Development
Bishnu Gautam
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Neural tube defect is rare congenital defect of fetus. I have a case of 13 weeks period of gestation with meningomeyelocele came for termination of pregnancy. The diagnosis was confirmed by ultrasonography. History suggests that patient had previous neural tube defect baby, non-compliance to folic acid supplements. It is concluded that prenatal counseling, adherence to folic acid supplement and regular follow-up can prevent further complication.
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229
INTRODUCTION
Neural tube defects (NTDs) are congenital
structural abnormalities of the central nervous
system and vertebral column affecting 1 in every
1000 pregnancies.1 It may occur as an isolated
malformation, in combination with other
malformations, as part of a genetic syndrome, or as
a result of teratogenic exposure. Neural tube defects
(NTDs) are common major congenital anomalies
that result from very early disruption in the
development of the brain and spinal cord. They
emanate from a failure of neurulation, which occurs
around the 28th day after conception. There are
three principal forms of neural tube defects: The
first is anencephaly, second is encephalocele and
the third is spina bifida.2
Neural tube defects are the second-most-common
major congenital anomaly3,4 after cardiac
malformations, and their prevalence varies by
geographic region, race, and environmental
factors.5 The International Society of Ultrasound in
Obstetrics and Gynecology (ISUOG) suggest first
ultrasound scan when gestational age is thought to
be between 11 and 13+6 weeks’ gestation, as this
provides an opportunity to detect gross fetal
abnormalities.6 Though second-trimester ‘18-22-
week’scan remain the standard of care for fetal
anatomical evaluation in both low-risk and high-
risk pregnancies.7 First-trimester evaluation of fetal
anatomy and detection of anomalies was introduces
in the late 1980s and early 1990s with the advent of
effective trans-vaginal probes.8 Early detection and
exclusion of many major anomalies,early
reassurance to at-risk mothers, earlier genetic
diagnosis and easier pregnancy termination if
appropriate.9
CASE REPORT
We report a case of 25 years multigravida at 13
weeks period of gestation with the diagnosis of
meningo-myelocele (Neural tube defect) came for
termination of pregnancy in outpatient department.
Journal of College of Medical
Sciences
-Nepal, Vol-14, No 4, Oct-Dec 2018
ISSN: 2091-0657 (Print); 2091-0673 (Online) Open Access
Case Report
Neural Tube Defect: A Case Report
Bishnu Gautam1
1Department of Obstetrics and Gynecology, Lumbini Zonal Hospital, Butwal, Nepal.
Correspondence: Dr. Bishnu Gautam, Department of Obstetrics and Gynecology, Lumbini Zonal Hospital,
Butwal, Nepal. Email: bishnugautam6876@gmail.com. Phone: +977-9845290288. DOI: 10.3126/
jcmsn.v14i4.22032. Article received: 2018-11-15. Article accepted: 2018-12-10.
ABSTRACT
Neural tube defect is rare congenital defect of fetus. We report a case of 13 weeks period of gestation with
meningomeyelocele came for termination of pregnancy. The diagnosis was confirmed by ultrasonography.
History suggests that patient had previous neural tube defect baby, non-compliance to folic acid supplements.
It is concluded that prenatal counseling, adherence to folic acid supplement and regular follow-up can
prevent further complication.
Keywords: folic acid; meningomyelocele; neural tube defect.
JCMS ǁ Vol-14 ǁ No 4 ǁ Oct-Dec 2018
Figure 1. Fetus with Neural tube defect (after
termination of pregnancy).
230
Her history says that she has 6 years of marital life,
non-consanguineous marriage and she had
conceived spontaneously. Regarding her obstetrics
history, she is G4P2A1L1D1, first pregnancy was
term vaginal delivery with neural tube defect, it was
diagnosed in third trimester because no scan was
done before baby died after few days of life, second
baby she had neural tube defects diagnosed at 16
weeks period of gestation and pregnancy was
terminated, third pregnancy she delivered healthy
baby caesarean section was done. On her present
(four) pregnancy she had first trimester scan i.e. at
13 weeks period of gestation ultrasound finding
suggested a cystic mass of approximately 12*5 mm.
apparently splaying of posterior spine at lumbo-
sacral region associated with posterior-caudal
displacement of midbrain and its deformation
against the occiput as the crash sign and obliterating
fourth ventricles (Figure 1). According to patient
she was taking folic acid supplements. Genetic
counseling was advised for chromosomal analysis
but the parents refused and opted for termination of
pregnancy. Induction of labor was done with
misoprostol as per protocol. She delivered dead
fetus weighing 200gms. Couple was counseled for
the pre-conceptional care and regular follow up.
DISCUSSION
Since 2009, obliteration of intracranial translucency
(IT) continues to be used as an indirect marker of
open spina bifida in the first trimester. Occiput
distance and crash sign in axial plane; fronto-
maxillary facial angle and Maxillo-Occipital line in
the sagittal plane is the indirect marker for open
spina bifida.
Among the NTDs, anencephaly is not compatible
with life and fetus is still born or dies few hours
after birth. While depending upon the severity, the
child with spina bifida can survive with the
advancement of technology. The neural cord is
subsequently covered with a biocellulose patch and
the skin closed over the patch with a single running
stitch. If the defect is too large, a skin substitute is
placed over the biocellulose patch for two-layer
closure of the defect. Following coverage of the
lesion, the insufflated carbon dioxide is removed
with simultaneous refilling of the amniotic cavity.
One study from China reported an estimate of
recurrence risk of NTDs, based on a retrospective
survey in the early 1990s. The overall recurrence
was 6.9%, with differing rates in low, average and
high prevalence areas of 3.7%, 4.5% and 8.3%,
respectively.10 A meta-analysis of the randomized
trails indicated a 69%-87% reduction with use of
folic acid for the prevention of recurrent NTDs and
85-100% reduction in observational studies.11
CONCLUSION
All women of childbearing potential should be
receiving folic acid at a dosage of 0.4 mg/day, in
accordance with the recommendation of the US
Center for Disease Control and Prevention (CDC).
Pre-conceptional counseling for importance of folic
acid in pregnancy. First trimester ultrasound i.e.
from 11 to 13+6 week is recommended, meticulous
first trimester scanning to detect major fetal
anomalies and direct visualization of the lesion is
challenging. Intracranial translucency (IT) and
other indirect sonographic marker of open spina
bifida can increase our sensitivity to accurate
diagnosis.
Gautam. Neural Tube Defect: A Case Report
JCMS ǁ Vol-14 ǁ No 4 ǁ Oct-Dec 2018
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JCMS ǁ Vol-14 ǁ No 4 ǁ Oct-Dec 2018
Citation: Gautam B. Neural Tube Defect: A Case Report. JCMS Nepal. 2018;14(4):229-31.
Gautam. Neural Tube Defect: A Case Report
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Hua xi yi ke da xue xue bao= Journal of West China
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... in the University of Medical Sciences Iran where the association between folic acid use and occurrence of neural tube defects in a group of women and referred for therapeutic termination of pregnancy [8]. Guatam Bishnu concluded in his case report that prenatal counseling, adherence to folic acid supplement and regular follow-up can prevent further complications arising from neurulation processes [9]. The findings indicated that folic acid use before and after conception may have role to reduce rate of neural tube defects in the region. ...
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Describing the Prevalence of Neural Tube Defects Worldwide: A Systematic Literature Review
Article
Full-text available
Background: Folate-sensitive neural tube defects (NTDs) are an important, preventable cause of morbidity and mortality worldwide. There is a need to describe the current global burden of NTDs and identify gaps in available NTD data. Methods and findings: We conducted a systematic review and searched multiple databases for NTD prevalence estimates and abstracted data from peer-reviewed literature, birth defects surveillance registries, and reports published between January 1990 and July 2014 that had greater than 5,000 births and were not solely based on mortality data. We classified countries according to World Health Organization (WHO) regions and World Bank income classifications. The initial search yielded 11,614 results; after systematic review we identified 160 full text manuscripts and reports that met the inclusion criteria. Data came from 75 countries. Coverage by WHO region varied in completeness (i.e., % of countries reporting) as follows: African (17%), Eastern Mediterranean (57%), European (49%), Americas (43%), South-East Asian (36%), and Western Pacific (33%). The reported NTD prevalence ranges and medians for each region were: African (5.2-75.4; 11.7 per 10,000 births), Eastern Mediterranean (2.1-124.1; 21.9 per 10,000 births), European (1.3-35.9; 9.0 per 10,000 births), Americas (3.3-27.9; 11.5 per 10,000 births), South-East Asian (1.9-66.2; 15.8 per 10,000 births), and Western Pacific (0.3-199.4; 6.9 per 10,000 births). The presence of a registry or surveillance system for NTDs increased with country income level: low income (0%), lower-middle income (25%), upper-middle income (70%), and high income (91%). Conclusions: Many WHO member states (120/194) did not have any data on NTD prevalence. Where data are collected, prevalence estimates vary widely. These findings highlight the need for greater NTD surveillance efforts, especially in lower-income countries. NTDs are an important public health problem that can be prevented with folic acid supplementation and fortification of staple foods.
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Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31
Article
Full-text available
  • May 2015
  • CHILD NERV SYST
Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect. We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring. A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus. Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.
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The Continuing Challenge of Understanding, Preventing, and Treating Neural Tube Defects
Article
Full-text available
  • Mar 2013
  • SCIENCE
Prevention or Repair Neural tube defects, such as spina bifida, remain remarkably common, despite widespread efforts to prevent them through supplementing maternal diets with folic acid. Surgery early in development has seen some success, but problems often remain. Wallingford et al. ( 10.1126/science.1222002 ) review normal and abnormal neural tube development and suggest that discovering the genetic risk factors for these serious birth defects could provide ways to prevent and treat neural tube defects.
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Role of First-Trimester Sonography in the Diagnosis of Aneuploidy and Structural Fetal Anomalies
Article
  • Oct 2010
  • J ULTRAS MED
We sought to determine the sensitivity of the first-trimester scan in the early diagnosis of aneuploidy and structural fetal anomalies in an unselected low-risk population. This was a retrospective chart review of all patients having first-trimester scans between 2002 and 2009. At our center, a survey of fetal anatomy is performed at the time of nuchal translucency assessment at 11 weeks to 13 weeks 6 days. A second-trimester scan is done at 20 to 23 weeks and a third-trimester scan at 32 to 35 weeks. Isolated sonographic findings of choroid plexus cysts and echogenic intracardiac foci were excluded. Lethal anomalies and those requiring immediate surgical intervention at birth were considered major structural anomalies. All scans were performed by a single sonologist certified by the Fetal Medicine Foundation. All neonates were examined at birth by a pediatrician. Our study included 1370 fetuses. Six cases of aneuploidy (0.4%) were detected. The first-trimester scan detected 5 of 6 cases of aneuploidy (83%), confirmed by karyotype. There were 36 cases of structural fetal anomalies (2.6%); 20 (1.5%) were major anomalies. The first-trimester scan detected 16 of 36 (44%); 20 (56%) were identified by second- or third-trimester scans. The first-trimester scan detection rate for major structural anomalies was 14 of 20 (70%). The 5 that were missed by the first-trimester scan were detected by a second-trimester scan. Our study emphasizes the importance of the first-trimester scan in the early detection of aneuploidy and structural fetal anomalies. In this small unselected low-risk population, the first-trimester scan detected 83% of aneuploidies and 70% of major structural anomalies. Our results are comparable to previously published studies from other centers and further exemplify the invaluable role of the first-trimester scan in the early detection of aneuploidy and structural anomalies in an unselected low-risk population.
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WITHDRAWN: Ultrasound for fetal assessment in early pregnancy.
Article
  • Apr 2010
Advantages of early pregnancy ultrasound screening are thought to be more accurate calculation of gestational age, earlier identification of multiple pregnancies, and diagnosis of non-viable pregnancies and certain fetal malformations. The objective of this review was to assess the use of routine (screening) ultrasound compared with the selective use of ultrasound in early pregnancy (ie before 24 weeks). The Cochrane Pregnancy and Childbirth Group trials register and the Cochrane Controlled Trials Register (up to June 2001) were searched. Adequately controlled trials of routine ultrasound imaging in early pregnancy. One reviewer assessed trial quality and extracted data. Study authors were contacted for additional information. Nine trials were included. The quality of the trials was generally good. Routine ultrasound examination was associated with earlier detection of multiple pregnancies (twins undiagnosed at 26 weeks, odds ratio 0.08, 95% confidence interval 0.04 to 0.16) and reduced rates of induction of labour for post-term pregnancy (odds ratio 0.61, 95% confidence interval 0.52 to 0.72). There were no differences detected for substantive clinical outcomes such as perinatal mortality (odds ratio 0.86, 95% confidence interval 0.67 to 1.12). Where detection of fetal abnormality was a specific aim of the examination, the number of terminations of pregnancy for fetal anomaly increased. Routine ultrasound in early pregnancy appears to enable better gestational age assessment, earlier detection of multiple pregnancies and earlier detection of clinically unsuspected fetal malformation at a time when termination of pregnancy is possible. However, the benefits for other substantive outcomes are less clear.
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Performing a Fetal Anatomy Scan at the Time of First-Trimester Screening
Article
  • Mar 2009
  • OBSTET GYNECOL
Over the past decade, prenatal diagnosis has shifted rapidly from the second trimester into the first trimester. Although the nuchal-translucency scan may detect a small proportion of fetal structural malformations, fetal anatomy is not routinely assessed until the fetal anatomical survey is performed in the second trimester between 18 and 22 weeks. The recent development of high-frequency transvaginal ultrasound transducers has led to vastly improved ultrasound resolution and improved visualization of fetal anatomy earlier in gestation. Several pilot studies of a first-trimester anatomic survey have reported detection rates comparable with those achieved in the routine second-trimester anatomic survey. As advanced ultrasound technology becomes more available, there is an urgent need to evaluate the diagnostic ability of a first-trimester anatomic survey and to determine the role of a first-trimester anatomic survey in the current screening paradigm.
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Maternal Hyperthermia and the Risk for Neural Tube Defects in Offspring: Systematic Review and Meta-Analysis
Article
  • Apr 2005
  • EPIDEMIOLOGY
In animals, excessive core body temperatures have been documented to cause malformations; neural tube defects (NTDs) are among the most frequently reported. In humans, data are inconclusive and often conflicting. The objective of our report is to determine the risk for neural tube defects associated with maternal hyperthermia in early pregnancy. We conducted a systematic review and meta-analysis to evaluate available evidence on this topic in humans. MEDLINE, EMBASE, references from published reports, and biologic abstracts from meetings were searched for relevant studies. Reviewers evaluated all the retrieved articles and extracted the relevant data. Individual and summary odds ratios and relative risks were calculated using the Mantel-Haenszel method. Fifteen studies, reporting on 1,719 cases and 37,898 noncases, were included in the meta-analysis. The overall odds ratio for neural tube defects associated with maternal hyperthermia was 1.92 (95% confidence interval = 1.61-2.29). When analyzed separately, the 9 case-control studies had an odds ratio of 1.93 (1.53-2.42). The summary relative risk for the 6 cohort studies was 1.95 (1.30-2.92). Maternal hyperthermia in early pregnancy is associated with increased risk for neural tube defects and may be a human teratogen.
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Folic acid supplementation and neural tube defect recurrence prevention
Article
  • Nov 2007
It is well established that women who have had a pregnancy affected by a neural tube defect (NTD) have an elevated risk of a subsequent NTD-affected pregnancy and that a high dose (4 mg/day) of folic acid taken around the time of conception prevents most recurrences of NTDs. We reviewed the literature to identify studies that quantify the reduction in risk if women with a prior-NTD affected pregnancy consistently take folic acid before and during a subsequent pregnancy and the effectiveness of NTD recurrence prevention programs in increasing the percentage of women who consistently consume folic acid supplements. A meta-analysis of randomized trials of folic acid for the prevention of recurrent NTDs indicates a 69% reduction in recurrence risk if analyzed on an intention-to-treat basis and an 87% reduction among those women who took supplements prior to the beginning of pregnancy. Observational studies report reductions in recurrence risk of 85% to 100% among women taking folic acid prior to subsequent pregnancies. The percentage of women who take folic acid prior to a subsequent pregnancy has been reported to vary from 33% to 85%, varying with the demographic background and the intensity of folic acid counseling efforts. Targeted folic acid information and counseling provided to women with an NTD-affected pregnancy has been demonstrated to substantially reduce the risk of recurrent NTDs and is feasible to implement on a public health basis.
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Epidemiology of neural tube defect subtypes in Tunisia
  • Jan 1991
  • 944-952
  • K Nasri
  • Mkb Fradj
  • T Hamdi
  • M Aloui
  • N B Jemaa
  • S Nahdi
Nasri K, Fradj MKB, Hamdi T, Aloui M, Jemaa NB, Nahdi S, et al. Epidemiology of neural tube defect subtypes in Tunisia, 1991-2011. Pathology-Research and Practice. 2014;210(12):944-52.