Soumeya Siala Gaigi

Association of maternal homocysteine and vitamins status with the risk of neural tube defects in Tunisia: A case–control study

BACKGROUND This study was conducted to determine whether low folate and vitamin B12 levels, as well as high homocysteine levels in pregnant women are associated with neural tube defects (NTDs) in Tunisia. METHODS A total of 75 NTDs pregnancies and 75 matched controls were included in the study. Their vitamin B12, folate, and red blood cell folate concentrations were measured using a radio-immunoassay kit and total homocysteine concentrations were determined using a fluorescent polarization immunoassay. RESULTS Vitamin B12 and folate concentrations were lower in NTD-affected pregnant women than in controls (respectively, p = 0.009 and p < 0.001). Total homocysteine concentration was significantly higher in the NTDs group than in controls (p = 0.008). In the case group, the folate levels were positively related with vitamin B12 levels (r = 0.54; p < 0.001) and negatively correlated with total homocysteine levels (r = -0.19; p = 0.04). Besides, red blood cell folate levels were positively correlated with folate levels (r = 0.24; p = 0.02) and negatively correlated with total homocysteine levels (r = -0.37; p = 0.001). CONCLUSION Lower concentrations of folate and vitamin B12 are related to the increased risk of NTDs. Both folate and vitamin B12 intake insufficiency could contribute to the increased risk of NTDs. A dietary supplement, combining folate and vitamin B12, might be an effective measure to decrease the NTDs incidence in Tunisia.

Postnatally Diagnosed Agenesis of Corpus Callosum in Fetuses

Objectives: To examine and characterize the agenesis of the corpus calosum (ACC) in an epidemiological study of fetal autopsies, as well as, to analyze the associated anomalies and to emphasize the importance of the clinical examination of ACC. Methods: The subjects of observation are 20 fetuses from a total of 2238 autopsies carried out during a period of three years (2006–2009) in Tunis. Results: The associated abnormalities are hydrocephalus, cerebellar hypoplasia, agenesis of vermis cerebelli, polymicrogyria and lissencephaly. Sixteen of the cases (80%) are syndromic: Trisomy 13,18,21 (5,1,2 fetuses respectively) and Thanatophoric dysplasia, Fetal akinesia syndrome, Dandy-Walker Malformation and the Association VACTERL are represented by two cases each. Conclusion: The prenatal diagnosis of ACC must be the result of a multidisciplinary approach. The phenotype of the XLAG syndrome creates an interest to study asymptomatic patients with ACC, especially when the anomaly is detected prenatally.

Congenital anomalies in Tunisia: Frequency and risk factors

BACKGROUND Despite the high risk of recurrence of congenital malformations, there are no well-accepted preventive measures in developing countries like Tunisia. It is recommended that thorough epidemiological studies of congenital anomalies in this country are needed. The aim of this study is to assess the frequency and types of congenital anomalies in Tunisia and research some risk factors associated with occurrence of these anomalies. METHODS In this retrospective study, all the fetuses who were autopsied during 21years period from February 1991 to December 2011 (n=9678) at Service of embryofetopathology in the Center of Maternity and Neonatology of Tunis (CMNT) were studied. The classification of malformations was based upon the anatomical system affected. The differences in fetal/maternal characteristics between cases with or without congenital malformations were assessed using Chi2 test. RESULTS Of the all 9678 autopsied fetuses, 4498 (46.47%) were diagnosed as being malformed fetuses. Anomalies of limbs (22.71%) and digestive and abdominal wall defects (14.76%) were mostly detected, followed by congenital brain defects (13.41%) and nephrourologic abnormalities (11.23%). A marked association of parental consanguinity with increased congenital anomalies rates was found (P<10-6, OR=1.89, CI=1.69-2.13). CONCLUSION In Tunisia, surveillance and epidemiological evaluation of congenital anomalies underline the high frequency of these events. This will help to better target congenital anomalies prevention and screening policies in our population.

An increase in spina bifida cases in Tunisia, 2008–2011

BACKGROUND The term spina bifida refers to a group of neural tube defects that result in malformations of the spinal cord and the surrounding vertebrae. Though the etiologies of spina bifida remain largely unknown, several risk factors have been identified, including feto-maternal characteristics. AIM OF THE STUDY To discover possible underlying reasons for the increase of spina bifida and identify intervention targets, an investigation was undertaken comparing spina bifida-affected pregnancy notifications in 2008-2011 with notifications in the period 1991-1994. METHODS Characteristics and outcomes of births with spina bifida and pregnancy characteristics of mothers were recorded in the medical chart. Comparisons of pregnancies affected by a spina bifida in 2008-2011 were made with pregnancies affected by a spina bifida in the period 1991-1994. Statistical analysis was undertaken using Poisson regression and Chi-squared tests. RESULTS From 1991 through 1994, the prevalence of identified spina bifida cases was equal to 0.3/10,000 births compared to 1.6/10,000 births in 2008-2011. This increase was statistically significant (P<0.001). The prevalence of females was equal to 0.45 per 10,000 births over the period 1991-1994 compared to 1.88 per 10,000 births during the period 2008-2011. As for males, the prevalence was equal to 0.16 per 10,000 births in 1991-1994 compared to 1.88 in 2008-2011. The difference was statistically significant (P<0.001) between both genders. A mothers age of over 30 years had significant impact on the emergence of spina bifida (P=0.02, OR=3.93, CI=1.23-12.47). As well as, maternal blood type was a significant risk factor for the appearance of spina bifida (P=0.008). Results also had shown that fetal weight and term, gestity and parity were significant risk factors for the occurrence of spina bifida (P<0.05).In this study, results have been interpreted with caution due to analyses not being adjusted. CONCLUSION This analysis highlighted areas where prevention efforts should be strengthened and surveillance data improved.

Fetopathological examination for the fetuses with Down syndrome in Tunisia: Epidemiological study and associated malformations

BACKGROUND For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data. AIM OF THE STUDY The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome. METHODS Our retrospective study was realized for 144 fetuses with DS among 9321 autopsied fetuses in embryo-fetopathological service between 1994 and 2011. RESULTS In our study, the majority of mothers (72.91%) were 35 years and older, with a statistically significant difference (p<10-6, OR=16.7, CI=8.7-32.4). The abnormalities of extremities (31%) were the most common fetal abnormalities followed by facial (23.51%) and digestive abnormalities (19.63%). CONCLUSION One of the main conclusions of this research is that the most common risk factor for DS is maternal age. On the other hand, the type and the frequency of associated congenital anomalies with DS are still controversial.

Usefulness of Fetopathological Examination in the Diagnosis of Skeletal Dysplasias

Volume 5 • Issue 1 • 1000e103 J Clin Med Genomics, an open access journal ISSN: 2472-128X The skeletal dysplasias (SD) are the most common of the fetal genetic skeletal disorders. Classification of these conditions is based on clinical, radiological and pathological criteria [1]. The identification of an increasing number of genes involved in these disorders led to consider a molecular classification that groups phenotypically different conditions caused by mutations in the same gene [2]. Thus, the SD are composed of distinct groups of squeletal disorders covering a wide spectrum of gravity. However, this classification is still hybrid because the molecular defects have not yet been identified in all cases of SD [2]. Prenatal imaging can detect early fetal skeletal anomalies of varied severity and prognosis. It can accurately predicts lethality, based on the identification of pulmonary hypoplasia and severe limb shortening, but often raises a

A fetopathological and clinical study of the Dandy-Walker malformation and a literature review

Abstract Aim: The Dandy-Walker malformation is a rare abnormality of the central nervous system pertaining to the group of cystic malformations. The frequency of occurrence of the malformation ranges from 1:800 to 35,000 live births. The aim of this study is to investigate the Dandy-Walker malformation in two cases – one by autopsy after abortion due to medical indications during the 25th gestational week at The Clinic of Embryo and Fetopathology, Center for Maternity and Neonatology, Tunis, Tunisia, and another case of a 1-year-old infant diagnosed with an acute internal hydrocephalus at The Clinic of Neurosurgery, Medical University Plovdiv, Bulgaria, and to compare the results with those in the literature. Results: Both cases are of an isolated Dandy-Walker malformation without any associated abnormalities of the central nervous system and other organs and systems. After the placement of a ventriculoperitoneal shunt in the second case, the child’s condition was greatly improved. Conclusion: The question arises whether the prenatal diagnosis of an isolated Dandy-Walker malformation is an indication for pregnancy termination, and who and after what examinations has the right to make this decision, given the favorable outcome after surgical treatment.

Correlation of trisomy 13 with atelencephalic aprosencephaly

Abstract A rare phenotype-genotype correlation of atelencephalic aprosencephaly in a fetus with free trisomy 13 karyotype, obtained by pregnancy termination for holoprosencephaly during the 26th gestational week, is presented. Lack of cerebral hemispheres and presence of rudimentary diencephalon, brain stem and hypoplastic cerebellum were revealed. Agenesis of the eyeball, of the optic nerve and of the pyramids of the medulla oblongata was established. Skull and face examination found craniostenosis, microcephaly, cella turcica agenesis, cyclopia, cleft palate and nose agenesis.The correlation between the most common karyotype of trisomy 13 and the very rare brain abnormality atelencephalic aprosencephaly suggests that the study of parental karyotype is desirable to inform parents about its accidental and non-hereditary nature in a probable future pregnancy.

A fetus with meckel-gruber syndrome associated with isomerism

Abstract. Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation. As far as we know, the rate of incidence for the syndrome is 0.02 per 10,000 births. It is estimated that Meckel-Gruber syndrome accounts for 5% of all neural tube defects in Finland. Objective. The aim of this study is to present a case of a fetus with Meckel-Gruber syndrome associated with complete left isomerism. Method. The fetus was obtained after medical interruption of the pregnancy during the fifteenth gestational week. The mother was 36 years old and in a consanguineous marriage. The antenatal ultrasound examination revealed a polymalformative syndrome, leading to a postmortem examination. The fetopathological study of the fetus was conducted at the Centre for Maternity and Neonatology, Tunis, Tunisia, in 2008. Results. The female fetus had a significantly deformed ballooning abdomen, pes equinovarus, flexion of the wrist and a total posterior cleft palate. The central nervous system abnormalities were occipital encephalocele, cystic dilatation of the fourth ventricle, agenesis of corpus callosum and hydrocephalus. The study of the internal organs found dextrocardia, irregular lobulation of the lungs, left isomerism, and polysplenia. The microscopic examination revealed bilateral cystic dilation of the kidneys, fibrous proliferation of the liver and ectasic dilatation of the billiary ducts, representing a ductal plate malformation of the liver. Conclusion. The case is diagnosed with Meckel-Gruber syndrome associated with complete left isomerism, cleft palate and possibly Dandy-Walker syndrome.

Demographic factors and associated anomalies in fetuses with neural tube defects

Abstract The aim of this study was to identify the types of abnormalities associated with neural tube defects (NTDs) and the magnitude of the risk for their expression under the influence of the following factors: maternal age >35 years, consanguinity and season of conception. One hundred and fifty fetuses were autopsied during the period 2006–2009 at the Center for Maternity and Neonatology, Tunisia. A mother’s age of >35 years increases the probability of intrauterine growth retardation by two-fold [odds ratio (OR) 2.043, confidence interval (CI) 0.880–4.741]. Consanguinity increases the relative risk for abnormalities in the facial shape (OR 3.031, CI 1.279–7.183) and adrenal hypoplasia (OR=2.787, CI 1.140–6.814). The autumn-winter period of conception increases the relative risk for the expression of cleft palate by more than nine times (OR 9.035, CI 1.161–70.258) and by about three times for abnormalities of the excretory tract (OR 2.935, CI 0.954–9.141). The prenatal ultrasound diagnosis of NTDs with risk factors such as maternal age >35 years, consanguinity and conception during the autumn-winter period should be targeted to the search for lower-than-normal fetal weight and abnormalities of the excretory tract and the adrenal glands. The head should be examined with special care for deviations in the cranial perimeter and cleft palate.