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Neural tube defects (NTDs) including spina bifida, anencephaly and encephalocele are among the most common birth defects, with high associated mortality and morbidity. There are no data concerning the incidence, associated anomalies, treatment and outcome of NTDs in Algeria. The objective of this study is to analyse data on NTD cases from 2004-2006 at Sétif Hospital, a hospital with 8,000-10,000 deliveries annually. A retrospective chart review of patients with NTDs was performed, who were born at Sétif Hospital 2004-2006. During the 3 year period we examined, there were 215 patients with NTDs treated in the Sétif Hospital. The incidence of NTD is 7.5 per 1,000 births. The sex distribution was not equal among NTD cases, 126 (58.6%) females, 88 (40.9%) males and one (0.5%) unidentified sex. Among all NTD cases, there where 122 (56.7%) with spina bifida, 69 (32.1%) with anencephaly, 1 (0.5%) with encephalocele and 23 (10.7%) with anencephaly and spina bifida. Hundred and seventeen (54.4%) cases died in utero and 4 cases (1.9%) unknown. The rate of consanguinity among all NTD cases was 13% (28/215). The rate of affected newborns was highest in mothers aged 31-35 years (21.9%). The peak prevalence was in June (15.8%). A half of NTDs were spina bifida and there was a high rate of mortality. This study demonstrates that NTD represents a significant public health problem in Algeria. In Algeria there were no population-wide educational campaigns about folic acid or its association with the prevention of birth defects. Public health interventions aimed at increasing the periconceptional consumption of folic acid should be implemented or enhanced to reduce the incidence of NTDs in Algeria.

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The polymorphic mutation 677 C-T in the methylenetetrahydrofolate reductase (MTHFR) gene presents a heterogeneous worldwide distribution and is associated with different disorders such as cardiovascular disease. Its frequency shows great ethnic and geographic variations. The aim of this work is to determine the frequency of MTHFR 677 C-T and coexistence of MTHFR 677 C-T with 2 other common, hereditary thrombophilia causes-namely, factor V 1691 G-A and prothrombin (PT) 20210 G-A mutation-in the Sétif region of Algeria. The study involved 147 apparently healthy participants (82 men and 65 women). Genotyping was carried out by a real-time polymerase chain reaction. The MTHFR 677T carrier frequency was found to be 54.4% (80/147); 59 individuals were heterozygous (40.1%), and 21 were homozygous (14.3%). The frequency of MTHFR 677T was found to be 34.3%. Among the 147 individuals, 3 (2.0%) had factor V Leiden, and 5 (3.4%) had PT 20210 A mutation. Of the 80 participants with MTHFR 677T mutation, 2 had heterozygote factor V 1691 G-A gene mutation, and 4 had heterozygote PT 20210 G-A gene mutation. The results showed that MTHFR 677T prevalence is quite high: an allelic frequency of 34.3% with a genotype frequency of 14.3%. Factor V 1691 G-A and PT 20210 G-A gene mutations are rare in the healthy population of the Sétif region of Algeria.

Background: Neural tube defects (NTD) are severe congenital malformations due to a failure in neural tube formation at the beginning of pregnancy. The etiology of NTD is multifactorial, with environmental and genetic determinants. We suggest a study of gene-gene interactions regarding the possible association of NTD with specific mutations of 5,10-methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) genes. Patients and Methods: The genetic analysis of the MTHFR C677T polymorphism was performed by real-time polymerase chain reaction (PCR) on a Light Cycler, the CBS genotype was analyzed by PCR in a thermal cycler. Ninety-two mothers who had conceived NTD children and 48 fathers were investigated. A group of 147 adults, including 82 apparently healthy women, was used as control. Results: Among control mothers, 35 (43%) were heterozygous for the C677T variant and 14 (17%) were TT homozygous. Among the cases, 25 (52%) out of 48 mothers and 22 (46%) out of 48 fathers carried the T allele; 9 mothers (19%) and 5 fathers (10%) had the TT genotype. A homozygous C677T mutation was not an NTD risk factor in this preliminary study in an Algerian population; a possible gene-gene interaction between the MTHFR C677T polymorphism and the CBS 844ins68 has also been examined in relation to NTD, but no such association has been shown. There was a statistically significant difference between the heterozygosity genotype frequency of CBS polymorphisms in mothers with a previous child with NTD compared with the mother controls (odds ratio: 3.72; 95% CI: 1.59–8.73). Conclusion: Our results with Algerian NTD mothers did not show a significant association for any group, suggesting that the thermolabile variant C677T in the MTHFR gene is not a risk factor for a mother to have NTD offspring; rather, folic acid supplementation or fortification should become mandatory for all women of reproductive age in Algeria.