This study reported a prevalence of congenital malformations of 9.2 per 1000 births, a figure that aligns closely with those reported in other parts of Morocco: 1.02% of a percent at the Souissi maternity hospital in Rabat (
25), 1.34% in the Oriental region (
26), and 5.58 per 1000 at the “Les Orangers” hospital in Rabat (
27). Comparatively, in other African countries, the prevalence stands at 9 per 1000 births in Cameroon (
28), 3.2 per 1000 in Togo (
29), and 3.6 per 1000 in Ivory Coast (
30). In France, specifically the Paris region, the total prevalence of malformations and chromosomal anomalies among births and medical terminations of pregnancy was recorded at 32 per 1000 in 2000 (
12). The variation in prevalence rates of congenital malformations can be attributed to multiple factors, such as geographical location, genetics, environmental exposures, and the efficacy of epidemiological surveillance, explaining the observed differences across countries and regions (
31). These disparities might also stem from an underestimation of percentages, especially in regions with insufficient death registration systems, which may lead to the misclassification of deaths caused by congenital malformations (
4). This emphasizes the necessity for a thorough understanding of the specific types and regional variations of congenital malformations to ensure effective prevention, management, and appropriate allocation of resources, taking into account these territorial differences (
31).
In our series, poly malformation syndrome was observed in 22.64% of cases, a figure nearly identical to that reported by the “Les Orangers” hospital in Rabat, where the syndrome was present in 26.5% of cases (
27). Regarding the prevalence distribution of the various malformations identified in our study, neural tube malformations emerged as the most prevalent, with a frequency of 39.62%, followed by musculoskeletal malformations at 26.4%. Malformations of the digestive tract were the fourth most common, behind poly malformation syndrome, affecting 17.61% of cases.
The predominance of neural tube defects has been highlighted in various studies and countries, including Pakistan, with a frequency of 20.35% of cases (
32), and the Ivory Coast, with 51.16% of cases (
30). The WHO has also acknowledged that neural tube defects, heart defects, and Down's syndrome are among the most serious and common congenital malformations (
3). Our findings underscore the necessity to enhance the national program aimed at combating micronutrient deficiencies, particularly those of folic acid and iodine. Additionally, there's a need to increase women's awareness regarding the importance of pregnancy monitoring and the risks associated with the regular intake of Fenugreek (
33).
Regarding the frequency of congenital malformations by gender, the literature suggests a higher predisposition among boys. At the Souissi maternity hospital in Rabat, Morocco, male newborns (57.9%) were more frequently affected by congenital malformations than female newborns (40.5%) (
34). Shabbir et al. (
32) also found that 57.52% of malformed newborns were boys and 42.47% were girls. These findings align with our study, where a significant association was observed between male sex and the occurrence of congenital malformations (P = 0.001).
In terms of birth weight, many studies report a higher frequency of malformations in newborns with normal birth weight (
28,
35). Our findings agree with this observation, indicating a positive association between birth weight and the occurrence of congenital malformations (P < 0.001), with 62.3% of cases occurring in normal-weight newborns.
Kase and Visintainer noted that congenital malformations significantly impact the likelihood of preterm birth, contribute to the degree of prematurity (
36), and increase neonatal morbidity risks for preterm infants (
17). Newborns with congenital anomalies are more likely to be born preterm compared to those without, with the combined impact of prematurity and congenital anomalies being more than cumulative (
37). Our study supports this, showing a significant relationship between congenital malformations and the term of birth (P = 0.025) despite a nearly equal distribution of malformations among preterm (44.7%) and full-term (55.3%) infants. This is akin to the findings of Kamla et al. (
28), where 37% of malformed newborns were preterm.
In our study, a significant association was found between the Apgar score, the condition of the newborn at birth, and congenital malformations, each with a P-value of < 0.001. We observed an increase in the stillbirth rate among malformed newborns within the first twenty-four hours of life, from 11.3% to 15.1%. Additionally, 22.6% of newborns were in a critical state (Apgar score < 3), necessitating urgent intensive care. Indeed, low Apgar scores are associated with increased mortality and a higher risk of cerebral palsy (
38). Enhanced access to health services, timely interventions, and the availability of professionals trained in neonatal resuscitation protocols can significantly decrease neonatal and infant morbidity and mortality (
39).
Concerning the place of origin, Vrijheid et al. (
40) demonstrate that the risk of non-chromosomal abnormalities escalates with socio-economic deprivation. In our study, the frequency of malformations among women from rural areas was 61%. However, our statistical analysis revealed no significant association (P = 0.241) between this variable and the occurrence of congenital malformations. This finding can be attributed to the demographic distribution in the Marrakech-Safi region, where 57% of the population resides in rural areas, compared to 43% in urban areas, underscoring the region's rural character (
18). The socio-economically disadvantaged segments, especially those in isolated and mountainous areas, face challenges in accessing and availing health services for women and children and bear a higher burden of congenital malformations (
31). Our results emphasize the need for the Ministry of Health to take further action to promote equity and reduce disparities both within and between regions. There's a call to enhance interventions at primary healthcare facilities and to improve practices within families and communities through a community health approach (
41).
In the literature, multiparity and advanced maternal age are identified as factors that increase the risk of having a child with congenital anomalies (
13,
29,
42). This aligns with our findings, which demonstrate a statistically significant association between multiparity and the occurrence of malformations in offspring (P = 0.002). According to Khoushnood et al. (
43), an increase in maternal age significantly affects the risk of spontaneous abortion, maternal health, and pregnancy outcomes (including multiple births, prematurity, hypotrophy, and congenital anomalies). In our study, maternal age was also significantly associated with the occurrence of malformations (P = 0.001), with the highest incidence observed in the 18 - 35 age group (62.3%), indicating that mothers in this age group are most likely to give birth to malformed children. This result parallels findings from northern Togo, where the 26 - 30 age group was most affected by congenital malformations (
29).
Previous research has highlighted that the frequency of congenital malformations significantly increases in women with chronic diseases, especially diabetes (
44,
45). Our findings corroborate these results, showing a significant correlation between maternal medical history and the incidence of malformations (P = 0.002). This underscores the importance of primary prevention, aimed at reducing risks associated with low socio-economic status, poor diet, environmental contaminants, and chronic conditions such as hypertension and diabetes (
46), particularly in the Marrakech-Safi region, which is among the most economically and socially challenged regions (
41).
Our study revealed a significant link between the lack of pregnancy monitoring and the occurrence of congenital malformations (P = 0.008). Notably, 68.6% of mothers did not undergo pregnancy monitoring, although two-thirds (62.3%) had high-risk pregnancies. In Morocco, despite efforts to improve pregnancy and childbirth monitoring, only 53.5% of women receive the four prenatal consultations recommended by the Ministry of Health, with significant discrepancies based on the place of residence (65.6% in urban areas vs. 38.5% in rural areas) (
47). This rate significantly correlates with a woman's education level and, inversely, with her socio-economic status and the stage of pregnancy (
41). Indeed, a low socioeconomic status often relates to poor pregnancy follow-up and inadequate prevention of congenital malformations (
29).
The findings of this study also show a significant link between undergoing ultrasound examinations during pregnancy and the incidence of malformations (P = 0.001), with 58.5% of the mothers of malformed newborns not having received an ultrasound examination during their pregnancies. Obstetrical ultrasound is recognized as the optimal method for studying and monitoring fetal malformations (
30), facilitating the detection of Down syndrome and major structural anomalies in the first trimester, as well as severe fetal anomalies in the second trimester (
3). The limited access to prenatal care and ultrasound examinations in our study can be attributed to the rural characteristics of the Marrakech-Safi region, the inaccessibility of healthcare facilities, and insufficient medical coverage, especially in isolated or mountainous areas (
41). These factors complicate the provision of comprehensive prenatal care, genetic counseling, and specialized interventions for parents at risk of having children with congenital malformations (
31).
In Morocco, the majority of deliveries occur in public establishments supervised by the Ministry of Health and Social Protection, with a minority of deliveries happening at home. Hence, data on these deliveries were not available for our study, which is a limitation. Additionally, data from private establishments was inaccessible.
Furthermore, during data collection, we encountered missing data for several variables, such as the mothers' consumption of harmful substances (tobacco, alcohol, drugs, psychotropics), parental consanguinity, diet, and exposure to environmental or occupational chemical contaminants, which could bias our results and potentially lead to an underestimation of prevalence.
5.1. Conclusions
This study has illuminated the prevalence of congenital malformations at 9.2 per 1000 births and identified associated risk factors in the Marrakech-Safi region, specifically maternal age, parity, maternal medical history, male sex, and newborn weight at birth. These insights will assist healthcare professionals in tailoring the activities of the national congenital disease screening program to the region's characteristics, emphasizing preventable congenital malformation factors. Enhancing genetic counseling and prenatal screening for high-risk parents and promoting the micronutrient deficiency combat program, particularly focusing on improving the skills of nursing staff, are vital strategies to address the incidence of birth defects. Additionally, reinforcing the neonatal death surveillance system and expanding it to all regions is crucial for tracking and reducing neonatal morbidity and mortality rates due to birth defects at both national and regional levels.