The standard definition of the Arab world comprises the 22 states and territories (UNDP, 2012) of the Arab League stretching from the Atlantic Ocean in the west to the Arabian Sea in the east, and from the Mediterranean Sea in the north to the Horn of Africa and the Indian Ocean in the southeast (Fig. 1). Arab countries have a combined population of around 350 million people (WHO, 2010), and can be classified according to their global human development level into low, medium, and high categories, with huge social inequalities and health inequities existing between and within individual countries.
Consanguineous marriage is customary in most if not all Arab communities and intrafamilial unions currently account for 20–50% of all marriages (Tadmouri et al., 2009). First-cousin unions are especially popular, in particular the paternal parallel subtype. Consanguinity rates differ among different Arab countries as well as within one country. The prevalence of congenital anomalies in the offspring of first-cousin marriages has been estimated to be 1.7–2.8% higher than the background population risk, mostly attributable to autosomal recessive disorders (Hamamy et al., 2011).
Congenital abnormalities are a major public health burden. Among the most common and debilitating malformations are those affecting the formation of the neural tube, the precursor to the central nervous system. Neural tube defects (NTDs) arise from a complex combination of genetic and environmental interactions (Wallingford et al., 2013).
NTDs are considered to be a heterogeneous condition resulting from failure of normal neural tube closure between the third and the fourth week of embryonic development. The three common types of NTDs are anencephaly, spina bifida, and encephalocele. The birth rates of NTDs vary with race, geographic variation, socioeconomic classes, nutritional status, availability of prenatal diagnosis, and multiple predisposing factors such as single gene disorders, chromosomal abnormalities, teratogens, maternal diabetes, family history of NTDs, and polymorphisms in the genes of folate metabolism (Chen, 2008).
Uses of folic acid and supplements during pregnancy have been shown to be a major preventive factor for NTDs (Czeizel and Dudas, 1992; De Wals et al., 2007). Humans cannot produce folate; the major dietary sources of folates are fresh and frozen green leafy vegetables, citrus fruits and juices, liver, wheat bread, and legumes, such as beans. The requirement of this water-soluble vitamin is supplied partly by the dietary intakes of folates and partly by the use of synthetic folic acid. It was estimated that the optimal daily intake of folate/folic acid in the periconception period is about 0.66 mg/day for the prevention of NTDs (McPartlin et al., 1993), and that the lowest risk of having a child with NTD was related to a red blood cell folate concentration of 906 nmol/l or more (Daly et al., 1995). About 8–12 weeks are needed to reach this level after a daily 0.4 mg of folic acid supplementation, whereas the intake of 0.8 mg folic acid/day produced the recommended level of red blood cell folate concentrations in 4.2±3.5 weeks (Bramswig et al., 2009). The recommended daily intake of folate/folic acid advised for a woman of childbearing age is 0.8 mg (Czeizel et al., 2011).
Because supplementation not only reduced the occurrence of NTD but also their recurrence, it was recommended that women who already had an NTD-affected pregnancy consume 4 mg of folic acid/day throughout the pregnancy (Public Health Service of the United States, 1992). In 1998, the US Food and Drug Administration mandated that flour be fortified with folic acid to ensure an adequate supply of folate for women of childbearing age (Food and Drug Administration, 1996).
Available data from Arab countries on the current situation of NTDs, namely, the epidemiologic profile and available prevention strategies will be reviewed. The aim is to outline the prevalence rates of these disorders to aid planning and monitoring national programs focusing on the care and prevention of these malformations in Arab countries.
An extensive literature search was carried out accessing the US National Library of Medicine (PubMed, 2013, http://www.ncbi.nlm.nih.gov/PubMed) and the WHO resources including the Index Medicus for Eastern Mediterranean Region (WHO, 2013). Keywords used for the search included the name of each country, combined with each of the following search terms: NTDs, anencephaly, spina bifida, birth defect, genetic services, and folic acid fortification.
The Catalogue for Transmission Genetics in Arabs [Center for Arab Genomic Studies (CAGS), 2013], a database on genetic disorders in Arab populations maintained by the CAGS, was also searched for relevant data.
Results and discussion
Among major congenital malformations, NTDs (anencephaly, spina bifida, and encephalocele) are easily diagnosed at birth, yielding reliable rates in published papers. Other major congenital malformations such as malformations of the brain, heart, and kidneys are not always visible or diagnosed at birth and their published rates depend on the methodology used for the research and the expertise of the attending health professionals. In most Arab countries, autopsies on stillbirths and postnatal deaths are not performed. Published reports on rates of NTD in Arab countries yield a range of 0.62–13.8/1000 births (Table 1).
Comprehensive programs targeting the care and prevention of NTDs on a population basis are still inadequate in most Arab countries. These programs face limitations including insufficient economic and human resources, dearth of data on the magnitude, health, and economic burden of these congenital disorders, and the general low genetic literacy among the public on prevention possibilities coupled with certain cultural, legal, and religious limitations such as the cultural fear of families with children born with congenital malformations of being stigmatized within their community and the legal and religious restrictions to selective abortion of an affected fetus.
A systematic review of the literature reporting the impact of folic acid fortification of flour on the prevalence of NTD in 2000–2011 concluded that fortification of flour with folic acid has significantly reduced the number of children with NTD in all countries that have mandated it (Castillo-Lancellotti et al., 2013).
Worldwide, 76 countries require fortification of one or more types of wheat flour. Arab countries that implemented folic acid fortification of wheat include Bahrain, Egypt, Jordan, Kuwait, Morocco, Oman, Palestine, Qatar, Saudi Arabia, Sudan, United Arab Emirates (UAE), and Yemen (Flour Fortification Initiative, 2013a, 2013b).
The annual prevalence rates during 3 years of all types of NTDs treated at the Service of Pediatrics and Gynecology-Obstetrics at Sétif Hospital (Algeria) were 7.3, 8.2, and 7.1 NTD cases/1000 live births and fetal deaths. The total NTDs numbered 215 and the total live births and fetal deaths were around 28 500, yielding an incidence of NTDs of 7.5/1000 births. Among the total cases of NTDs, there were 122 cases (56.7%) with spina bifida, 69 (32.1%) with anencephaly, one (0.5%) with encephalocele, and 23 (10.7%) with both spina bifida and anencephaly. The corresponding birth prevalence per 1000 births was 4.35 for spina bifida, 2.42 for anencephaly, 0.70 for spina bifida and anencephaly, and 0.03 for encephalocele. The female sex ratio was significantly higher for anencephalics (1.76) and spina bifida and anencephalics (4.0) compared with spina bifida (1.1) (P<0.05). Of all NTD cases studied, 117 (54.4%) cases died in utero and the outcome of four cases (1.9%) was unknown (Houcher et al., 2012). Consanguinity rates among parents of children affected with spina bifida and anencephaly were 57.1 and 32.1%, respectively (Houcher et al., 2012). Consanguinity rates among the general population in Algeria were reported to be 22–34% (Benallegue and Kedji, 1984; Zaoui and Biemont, 2002).
Al-Arrayed published two reports on the annual birth rates of NTDs on the basis of the statistics of the Ministry of Health (Al-Arrayad, 2006; Al-Arrayed, 1995) covering the period 1980–2000. The range of the number of births during the period 1980–1990 was 8544–12 394 per year, whereas the range of NTDs per 1000 births was 0.35–2.18 (average 0.95) (Al-Arrayed, 1995). During the period 1991–2000, the range of the rates of NTDs per 1000 was 2–3.6 (average 2.68) (Al-Arrayad, 2006). The Kingdom of Bahrain began fortifying flour with iron and folic acid in 2001 and the prevalence of NTDs decreased from 2.6/1000 live births to 0.9/1000 live births according to the data obtained from health statistics released annually by the Health Information Directorate, Ministry of Health (Flour Fortification Initiative, 2013a).
Among 1157 births at Ain-Shams Maternity Hospital, the prevalence of NTDs was 13.8/1000 births (live and stillbirths) (Samaha, 1995). Among 3000 consecutive births in a hospital in Giza, Cairo, in 1991–1993, the birth rates of anencephaly and encephalocele were 3.7 and 1.3/1000 births, respectively (Temtamy et al., 1998).
Serum folic acid and serum vitamin B12 levels were significantly lower in 20 infants with NTDs when compared with 20 healthy infants (Hassanein et al., 2013). The median serum levels of vitamin B12 in 36 women who were, or had been, pregnant with an NTD-affected fetus were significantly lower compared with 35 healthy women with normal previous or current pregnancy and uncomplicated obstetric histories. Results showed that a low vitamin B12 concentration was associated with about a 2–3 fold increased risk for NTDs (Gaber et al., 2005). In a sample of families from Egypt, neither homozygosity nor heterozygosity for the C677T polymorphism in the MTHFR gene constituted a genetic risk factor in the total NTDs, but could be a risk for spina bifida aperta (Abdel Aleem et al., 2006).
In 2008, the Government of Egypt began implementation of a 5-year national program to fortify the wheat flour used in baking subsidized baladi bread, the staple food consumed by a majority of low-income groups, with iron and folic acid.
Through the national Wheat Flour Fortification Program, ferrous sulfate and folic acid are now added to all wheat flour produced under the national Food Subsidy Program. Up to 50 million Egyptians nationwide are now consuming quality-assured fortified baladi bread on a daily basis. Political changes in Egypt in 2011 did not seem to affect the program; the new leadership in the Ministry of Supply and Internal Trade remains committed to fortification of wheat flour. Although flour fortification with folic acid is performed according to the recommended 1.5 parts/million, the daily consumption of baladi bread in Egypt could imply a 300–600 mg supply of folic acid (Elhakim et al., 2012). The consumption of baladi bread suggests that the impact of the program on the prevention and reduction of iron and folate deficiencies among the Egyptian population could be significant; the results of an end-line survey are pending (Elhakim et al., 2012).
In the Azadi Teaching Hospital in Dohuk, north of Iraq, 56 births (40 females and 16 males) with NTDs were reported among 11 945 births in 1 year (December 2004 to November 2005), yielding a birth prevalence of NTDs of 4.7/1000 births. The mothers of the affected newborns were not consuming folic acid before conception. In four (7%) cases, there was a history of an affected sibling with NTD. The consanguinity rate among the parents of affected children was 41% (Abdurrahman, 2007), whereas the consanguinity rate among the general population in the same region was 47% (Ali and Shah, 2000). Abdurrahman (2007) reported a similar high prevalence of 4.48 NTDs/1000 live births seen in Erbil city in Northern Iraq.
All preterm and full-term live and stillborn babies delivered at Al-Ramadi Maternity and Children’s Hospital, Al-Anbar Governorate, Western Iraq, from 1 November 2007 to 1 November 2008 were examined for sex, gestational age, NTDs, and associated congenital malformations. Mothers’ data included age, parity, consanguinity, education, antenatal care, previous medical illnesses, other NTDs history, folic acid supplementation, and diagnostic ultrasound. Incidence was calculated per 1000 births. During the study, 33 infants were delivered with NTDs, yielding an incidence of 3.3/1000 births. Most were of myelomeningocele and anencephaly types, and thoracolumbar and lumbosacral sites. Two-thirds of the cases found were from consanguineous marriage, 12 NTD’s mothers took folic acid during their pregnancy, whereas none of them received the drug during the periconceptional period. Three mothers had other NTDs-affected babies before, and 25–34-year-old mothers had most of the NTD deliveries than any other age groups (Al-Ani et al., 2010).
A systematic random sample of 2300 pregnant women who attended for labor at the Maternity and Children Hospital in Najaf city in Iraq was interviewed for a history of tobacco smoke exposure during the period 2002–2004. The sample was subdivided into women exposed and unexposed to tobacco smoke. The newborns were examined clinically by a pediatrician for the presence of any congenital anomalies, especially NTDs. The overall newly delivered newborns with congenital anomalies were 3.4% among 1194 smoker mothers and 1.9% among 1106 nonsmokers. There was no significant difference in the distribution of NTDs between those women who live in urban or rural areas or between different age groups, but smoking is a risk factor for NTDs (Abdul Kareem, 2007).
In North Jordan, in Princess Badeea Teaching Hospital, between 1 January 1995 and 31 December 1996, 55 cases of NTD were reported among 19 050 births (2.9/1000 births). Among these, 1.36/1000 were spina bifida, 0.99/1000 were anencephaly, and 0.52/1000 were encephalocele. The overall female to male ratio was 1 : 0.77.
To determine the frequency of NTDs among patients who were delivered at Prince Rashid Bin Al-Hassan Military Hospital in Irbid, North Jordan, 11 852 medical records over a period of 2 years between August 2005 and end of July 2007 were reviewed. There were 17 cases of NTDs (1.4/1000 births); of these, there were five cases of spina bifida (0.42/1000 births), three cases of encephalocele (0.25/1000 births), and nine cases of anencephaly (0.76/1000 births). The overall female to male ratio was 1 : 0.89 (Al Qudah et al., 2010).
A study analyzed the effect of folic acid-fortified foods on the incidence NTDs in live newborns at the Princess Badea Teaching Hospital, in the north of Jordan, before and after the national food fortification with folic acid was implemented for the 7-year period from 1 January 2000 to 31 December 2006. The total number of births at Princess Badea Hospital in the north of Jordan, as well as the number of pregnancies affected by spina bifida and anencephaly, per 1000 births were studied during the periods before 2000–2001, during 2002–2004, and after 2005–2006 folic acid fortification of grain products was implemented. A total of 78 children with NTDs were recorded among 61 447 births during the study period. The incidence of NTDs decreased from 1.85/1000 births before fortification to 1.07/1000 births during the fortification period and 0.95 after full fortification, yielding a 49% reduction in the birth rate of NTDs. The difference between the incidence of NTDs in the periods before and after food fortification with folic acid was statistically significant (Amarin and Obeidat, 2010).
In a study on the role of maternal factors in the etiology of NTDs in Jordan, spontaneous abortions were reported in 47.5% of the 45 mothers of NTD children compared with 27.9% among controls (P<0.05). In terms of parity, 31.7% of mothers of NTD children were primiparous compared with 20.4% among the controls (not significant) (Masri, 2005).
Among 17 652 consecutive births in 1987–1988 at Fawraniya Hospital in Kuwait, the overall birth prevalence of NTDs was 1.19/1000 births. The incidence per 1000 births of anencephaly, spina bifida, and encephalocele was 0.57, 0.28, and 0.34, respectively (Teebi et al., 1992).
The birth prevalence of anencephaly in Kuwait has shown a progressive decrease. In 1968, the estimated birth prevalence was 3.22/1000 among 4625 deliveries (El-Alfi et al., 1968) and 1.33/1000 among 36 138 consecutive births in 1983, with a marked geographical variation (Al-Awadi et al., 1984). This progressive decrease, in the absence of a prenatal diagnosis and selective abortion on religious grounds, is attributable mainly to the improved quality of food and change in dietary habits, with more consumption of fresh vegetables and fruit, in addition to improved health standards as a whole (Farag et al., 1989). The authors expected a progressive decrease in the prevalence of anencephaly in the Bedouin population with the improvement of the mother’s diet, leaving a baseline prevalence owing to more ‘genetic’ factors, which, especially in a population such as the Bedouins, might well include some autosomal recessive cases such as nonsyndromal anencephaly (Farag et al., 1986).
A total of 177 patients with NTDs were investigated clinically and genetically in order to provide an overview of the NTDs in Kuwait, and to study some risk factors that may contribute toward NTDs. Of these patients, 48 cases were delivered in the maternal hospital, out of 11 125 total live births, yielding an incidence of 4.3/1000, which is considered high. The study also reported a male to female ratio of 1 : 1.46, a mean maternal age of 27.44 years, and a mean paternal age of 32.54 years. Clinical manifestations included meningocele/myelomeningocele at different sites (62%) and anencephaly (25%) (Naguib, 1997).
In Beirut, 3865 consecutive newborns delivered in 1991–1993 were prospectively studied. All the neonates received a physical examination during the first 24 h of life. Major congenital anomalies were found in 64 newborns at an incidence of 16.5/1000 births. The malformed infants comprised 24.34% of all perinatal deaths, suggesting that improved care provided to these patients will considerably help in reducing perinatal mortality. The incidence of NTDs was 3.10/1000 births (Bittar, 1998).
A retrospective study to determine the population-based incidence of NTDs and congenital hydrocephalus was carried out in Oman. The total incidence of NTDs was calculated to be 1.25/1000 births, which was comparable with the rates from other Gulf countries. NTDs included anencephaly (0.69/1000 births), myelomeningocele (0.45/1000 births), and encephalocele (0.107/1000 births), whereas the incidence of congenital hydrocephalus was 0.53/1000 births, with a male to female ratio of 1.5 : 1 (suggesting X-linked hydrocephalus) (Rajab et al., 1998).
Among 21 988 newborn in Oman from January 1993 to December 2002, 541 babies (24.6/1000 births) had major malformations. The most common systems involved in neonates with single-system malformations were the gastrointestinal system (100 cases), the central nervous system (79 cases), and the cardiovascular system (63 cases) (Sawardekar, 2005).
Oman introduced the nationwide implementation of folate supplementation of pregnant women in 1990 and the fortification of wheat flour with iron and folate in 1996. The annual incidence of spina bifida fluctuated from 2.34 to 4.03/1000 deliveries between 1991 and 1996, but decreased sharply to 2.11/1000 deliveries in 1997, after which the downward trend continued, reaching 0.29/1000 deliveries by 2006. The rate of other NTDs remained almost constant. The reduction in spina bifida rates in Oman could be linked to the start of flour fortification, but not the folate supplementation to pregnant women program (Alasfoor et al., 2010).
Dudin (1997) carried out a preliminary study to estimate the incidence of NTDs among Palestinians living in East Jerusalem and the southern part of the West Bank (600 000 inhabitants). Between 1 January 1986 and 31 December 1993, all NTD in fetuses weighing more than 500 g or of more than 22 weeks’ gestation, whether the product of abortion, therapeutic termination, stillborn, or live born, were included. The study included 26 934 consecutive newborns. There were 148 cases of NTD, an incidence of 5.49/1000 births. The female to male ratio was 1.5 : 1. The incidences of spina bifida, encephalocele, and anencephaly were 2.23, 0.44, and 2.41/1000, respectively. The incidence of NTD increased with maternal age (Dudin, 1997).
In 2005, the Palestinian Authority decided to mandate the fortification of wheat flour with eight vitamins (vitamins A and D, B1, B2, niacin, B6, folic acid, and B12) and two minerals (iron and zinc) (Al-Quds Nutrition and Health Research Institute, 2013).
In three years from December 1987 to December 1990, the incidence of NTDs in the Asir region located in southwestern Saudi Arabia was 0.82/1000. These results were drawn from a survey on all cases of NTDs referred to the main hospital at Abha City, Asir Central Hospital. Anencephaly was seen in 0.43/1000 births, spina bifida cystica in 0.33/1000, and encephalocele in 0.08/1000 births (El Awad and Sivasankaran, 1992).
In the Asir region in Saudi Arabia, during the period from January 1995 to December 1998, the total number of deliveries was 82 176 and 64 infants with NTDs were admitted into the Newborn Unit of Asir Central Hospital, yielding an incidence of NTDs of 0.78/1000 births. The authors indicate that this is very likely an underestimation of the true situation as, presumably and understandably, infants with anencephaly and spina bifida occulta were not referred from the peripheral hospitals as anencephaly was seen only in 4.7% of all cases of NTDs. Sixteen or 25% of the 64 mothers were on folic acid supplementation during the affected pregnancy, whereas the bulk of 48 (75%) were not. This implies that only 16 or 30% of the 53 women who attended antenatal care received folic acid (Asindi and Al-Shehri, 2001).
In the same region in Saudi Arabia, out of 1171 newborns admitted to the neonatal ICU, 691 newborns had congenital anomalies, constituting 59.1% of all admissions, and among these, 45% had spina bifida and encephalocele, whereas only 1.6% had anencephaly (Alshehri, 2005).
In 1986, from the eastern province of Saudi Arabia, the overall incidence of NTDs was 1.6/1000 births including anencephaly at 1/1000, spina bifida at 0.33/1000, and encephalocele at 0.29/1000 (Thaliji et al., 1996). Among 14 762 singleton live born babies during a period of 6 years at the King Fahad Hospital, Al-Khobar, Saudi Arabia, the incidence of congenital malformations was 17/1000 live births. Major abnormalities were present in 74.4% and minor ones in 25.6% of cases. CNS anomalies accounted for 48.8% of the total defects, hydrocephaly, anencephaly, and meningocele being the predominant lesions. The incidence of malformed babies in diabetic mothers was 7.8%. Of the total 251 malformed infants, 38 died within the first week of life, with a mortality rate of 15.1%, compared with the overall perinatal mortality rate of 12.2/1000 live births in the hospital during the period of study (Al-Jama, 2001).
A retrospective review of all cases diagnosed antenatally with CNS anomalies in the Department of Obstetrics and Gynecology at King Abdulaziz University Hospital in Jeddah, Kingdom of Saudi Arabia, from January 1997 to March 2005 showed that 90 CNS anomalies were diagnosed antenatally and 86 were confirmed postnatally. Forty-one (47.7%) were NTDs (24 were spina bifida associated with hydrocephalus, three encephalocele, and 14 anencephaly) and 36 (41.9%) were hydrocephalus. Of the 41 cases that were operated on, six (14.6%) died, 26 (63.4%) survived with severe neurological sequelae, six (4.6%) were lost to follow-up, and three (7.3%) did well for the period of follow-up (Mansouri, 2010).
The incidence of NTDs was compared between the eras before flour fortification (1997–2000) and the eras after fortification among all babies born with NTDs at King Abdul-Aziz University Hospital in Jeddah, Kingdom of Saudi Arabia, between 1997 and 2005. A decrease in the incidence of NTDs was observed in the last decade from 1.9/1000 live births (1997–2000) to 0.76/1000 live births (2001–2005). Forty-two babies were born with NTDs, with a male to female ratio of 1.1 : 1, and 60% of mothers received folic acid during pregnancy, but none before conception. The authors conclude that after folic acid flour fortification, there was an apparent decrease in the incidence of NTDs in babies born at the hospital (Safdar et al., 2007).
In April 2008, female students from Colleges of Humanities, Sciences, and Health in Jeddah, Kingdom of Saudi Arabia, filled questionnaire sheets on their knowledge of the importance of folic acid preconception supplementation and whether they will implement what they learn after attending lectures delivered by the 4th-year medical students, who were trained and supervised by the faculty members of the King Abdul-Aziz University. Among 217 women, mean age of 21 years, 88% were not aware of the importance of folic acid in preventing NTDs, but after attending the lecture, 82.9% reported that they would use folic acid in the preconception period and 98.6% reported that they would pass on the important message on the importance of folic acid to others (Kari et al., 2008).
Over 8 years in Tunisia, the calculated incidence rate of anencephaly was 1.15/1000 births (between 0.52 and 1.66 per 1000 per year). Anencephaly occurred more in female patients. An antenatal echographic diagnosis was efficient in identifying the disease in 90.5% of the cases (Gaigi et al., 2000a).
Malformations were assessed in 10 000 consecutively born infants, dead or alive, at the Wassila Bourgiba Maternity Hospital in Tunis. The medical and social history including the rate of consanguinity was studied in the 396 malformed infants as well as in a control group of 229 infants. Among newborns with malformations, 248 had major malformations and 148 had minor ones. Thirteen per cent of the stillborn babies were malformed compared with 3.7% of the live born babies. The rates of most specific malformations were comparable with those in other studies, but a relatively high rate of NTDs (2.2/1000) was noted. There is a significant over-representation of consanguinity (65%) in parents of nonsyndromic multimalformed infants (Khrouf et al., 1986).
United Arab Emirates
The only Arab country that has a functioning national birth defects registry is the UAE. The National Congenital Anomalies Register in the UAE is a population-based register covering all births in the UAE and was launched in all medical districts in January 1999. The expected benefits of the register include the determination of the baseline birth prevalence of each type of congenital abnormalities, increase awareness within the medical community about these conditions, and improve the quality of diagnosis and recording. The aim is to establish a priority list of preventive measures and help to organize better care for patients. In addition, the register has a surveillance function to identify any significant changes in the baseline rate for specific congenital abnormalities. For the purposes of the register, congenital abnormalities are defined as structural defects of fetal development that require medical treatment. The purpose of the register is to record all live born infants (from birth to 1 year) and stillborn fetuses with congenital abnormalities. Abortion is not legal in the UAE, and thus, selective termination of malformed fetuses is not permitted. A special notification form is used to collect required data. Reported data are critically evaluated and coded at the Department of Maternal and Child Health in the Ministry of Health 2001 (Al Hosani et al., 2005).
A total of 164 244 births have been recorded since the implementation of the register (January 1999 to December 2001). The overall prevalence for congenital abnormalities during the study period was 7.9/1000 total births, 8.0/1000 live births, and 11.0/1000 stillbirths. The prevalence of NTDs was 0.5/1000 total births (Al Hosani et al., 2005).
A pilot dataset (March to May 1998) of the UAE National Congenital Abnormality Registry (NCAR) was studied. A total of 4861 births were recorded in this study period, with a birth prevalence of congenital anomalies of 30.3/1000 births. NTDs were identified in three neonates, resulting in an incidence rate of 0.62/1000 births (Hosani and Czeizel, 2000).
In a survey of serious congenital morphological abnormalities in Abu Dhabi, the overall incidence of severe congenital abnormalities diagnosed within the first week of life was 12.9/1000. The incidence of spina bifida and encephalocele was lower than elsewhere (0.54/1000) (Al-Jawad et al., 1988).
The Al Corniche Hospital is the largest maternity center in the Emirate of Abu Dhabi in the UAE, with an annual delivery of 9000–10 000 infants. Approximately 90% of the deliveries (low and high risk) in the Emirate take place at Al Corniche Hospital. Furthermore, the hospital serves a heterogeneous population including UAE nationals and a large expatriate population of Arabs and non-Arabs. During an 8-year period, there were 68 864 deliveries, with 85 infants diagnosed with NTDs (Samson, 2003).
In a study assessing the knowledge and practices of folic acid supplementation in pregnancy among pregnant women attending two main maternal and child health centers in Abu Dhabi, the majority of the 277 interviewed mothers (79.1%) had heard of folic acid and 46.6% had accurate knowledge of the role of folate in preventing NTDs and most took folic acid daily and in the recommended dose after the first month of pregnancy. Only a minority took it before pregnancy (Al-Hossani et al., 2010). Another study from the UAE showed that awareness of the value of periconceptional folic acid was very low, and that among postpartum women questioned in three maternity hospitals, only 45.5% of respondents took folic acid in the first trimester (Abdulrazzaq et al., 2003).
Prenatal screening and diagnosis
Ultrasound fetal scanning is performed routinely for any pregnant woman during her first antenatal visit in most Arab countries. Prenatal biochemical screening with maternal serum markers is available in most Arab countries, but is mostly optional. If the results of the test suggest an abnormality, then for the screening test to be effective as a preventive measure, it should be followed by further invasive techniques such as amniocentesis, with the end result that the couple will have to face the major decision of selective termination of a fetus affected by an NTD. There are several ethical, legal, social, and religious implications of pregnancy termination of an affected fetus. Some of these implications are unique to Arab countries. Although still uncommon, the choice of a prenatal diagnosis with selective termination of an affected fetus is a slowly evolving option in most Arab countries. In Tunisia, selective abortion of an affected fetus is permissible under civil law (Chaabouni et al., 2001). In most Arab countries, selective termination of a fetus with anencephaly is allowed because of incompatibility with life.
There was a breakthrough in the prevention of NTD during the 1980 and 1990s by periconceptional folic acid.
Well-performed studies from the USA (Williams et al., 2002), Canada (De Wals et al., 2007), and Chile (Hertrampf and Cortes, 2004) have documented decreases of 26, 42, and 40%, respectively, in the rate of NTDs-affected births after implementation of national regulations mandating wheat flour fortification with folic acid. Wheat and maize flour fortification with folic acid increases the intake of folate by women and can reduce the risk of neural tube and other birth defects (WHO, 2009).
There are three approaches for the use of folic acid with or without multivitamins for women of childbearing age planning to have a child:
- Consumption of folate-rich and other vitamin-rich diets: the recommended daily dose of folic acid intake would require the consumption of 500 g raw spinach, 900 g boiled spinach, or 900 g raw broccoli, that is, about 15 servings of broccoli each day (Czeizel et al., 2011).
- Periconceptional supplementation: considerable evidence is available to advise all women capable of becoming pregnant to have periconceptional (i.e. 2–3 months before and until 3 months after conception) of 0.4–0.8 mg folic acid or folic acid-containing multivitamin supplementation daily to reduce the risk for NTDs. The major problem is that many pregnancies are unplanned. The neural tube prepares to close on about the 15th day after conception, before the woman knows she is pregnant, hence the importance of preconception supplementation. Educational campaigns should instruct women to start the use of folic acid or multivitamins immediately after discontinuation of oral contraceptive pills or other contraceptive methods when couples decide to have a baby. In addition, primary health care providers could include periconception care within their services.
- Food fortification seems to be the most practical means of supplementation with folic acid and other vitamins for women with unplanned pregnancies. This public health initiative is comparable with the prevention of goiter by the addition of iodine to salt. Mandatory flour fortification would be especially important for the large proportion of women with lower levels of education and income who, in general, have difficulty buying more expensive foods rich in folate and other vitamins and who more frequently have unplanned pregnancies (Czeizel et al., 2011).
In conclusion, primary prevention of NTD is much better than elective termination of a pregnancy after the prenatal diagnosis of NTD through the supplementation of the recommended dose of folic acid before and during pregnancy.
Conflicts of interest
There are no conflicts of interest.
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