Our study reports a hospital prevalence of 18.3%, a rate significantly higher than those observed in the subregion, particularly in Cameroon (1.63%) [8] and Gabon (2.29%) [9]. This major difference can be explained by the status of the CHNEAR [7]. As a level 3 facility and national reference center, the department handles the most complex neonatal pathologies and transfers from peripheral facilities. In addition, our methodology included minor dysmorphic features (face and neck), which are often underreported in retrospective studies. Our sex ratio of 1.2 is consistent with international data suggesting an overall male predominance for most types of malformations [4]. However, this figure remains below Western data, probably reflecting a persistent underestimation linked to prehospital deaths and undocumented spontaneous abortions in our context [5]. This prevalence remains lower than in Morocco, where different environmental risk factors have been discussed [10].

The high prevalence of parental consanguinity (40%) in our cohort is a crucial risk factor for recessively inherited malformations. In our series, the high frequency of second-degree unions (62.5%) suggests a significant risk for the expression of autosomal recessive disorders, as described by Hamamy [11]. The lack of accessible genetic testing (only 3.8% of karyotypes performed) limits our ability to provide an accurate prognosis.

The average maternal age of 28 years observed in our study reflects a young reproductive population. However, the precariousness of socioeconomic status, found in 54% of cases, remains a major concern. According to the ANSD [12], such low income is often associated with poor nutritional status and limited access to specialized prenatal care, which can increase the vulnerability to congenital anomalies [1][8][13]. Parental consanguinity, identified in 40% of couples, represents a significant cultural risk factor in our series. The high prevalence of second-degree (62.5%) and first-degree (18.7%) unions suggests a high risk for the expression of autosomal recessive disorders, as highlighted by Hamamy [11]. This genetic burden is further evidenced by the 19% of mothers with a history of miscarriages and the 1% who experienced a previous in utero fetal death (IUFD). These findings may indicate recurrent lethal malformations or specific structural patterns within these families, as also observed in other regional series [11][13]. Furthermore, the prenatal screening paradox in our context is alarming. Despite a high attendance at prenatal consultations, 40% of mothers had no obstetric ultrasound, and the antenatal diagnosis rate was only 9%. This suboptimal care highlights the critical lack of morphological ultrasound equipment and trained personnel in peripheral health centers, a challenge frequently encountered in low-resource settings [8][12]. As noted in other African series, such late or absent diagnoses prevent organized neonatal management and contribute to the high mortality rates observed in reference centers [1].

Although 54% of mothers had more than three prenatal consultations (CPN), antenatal diagnosis of the malformation was made in only 9% of cases. This discrepancy highlights the uneven quality of care: 40% of mothers did not have any obstetric ultrasounds, often due to a lack of financial resources or a shortage of healthcare services in rural areas. In addition, the almost total absence of screening for TORCH infections (33.8% not performed and no positives detected) contrasts with studies in Cameroon [8]. This suggests that current antenatal care is ineffective in screening for malformations, turning the delivery room into a place where anomalies are suddenly discovered, thereby delaying early surgical treatment.

In our study, low birth weight (LBW) was observed in 20% of the neonates. This prevalence is significant and often associated with a higher risk of neonatal mortality in cases of congenital anomalies [1][3]. Our findings align with several African series, notably in Gabon [9] and Morocco [10]. Furthermore, intrauterine growth restriction (IUGR) was present in 27% of our cases. This high rate of hypotrophy, particularly the disharmonious type (59%), suggests chronic fetal suffering that could be linked to the malformative process itself or to shared etiological factors, such as maternal nutritional status [1][11]. The head circumference, which was below 30 cm in 28% of our patients, is also a concerning clinical sign. In the literature, a reduced head circumference is frequently associated with specific polymalformative syndromes and neurodevelopmental delays [2][4]. Finally, the combination of low birth weight and severe malformations significantly increased the case fatality rate in our series. As noted in other studies conducted in the sub-region, notably in Cameroon [8] and Senegal [7].

The distinctive nature of facial and osteoarticular abnormalities unlike traditional series, our study places malformations of the face and neck in first place (27.2%). This unusual result stems from our exhaustive listing of dysmorphic features (low-set ears, hypertelorism) that are often included indiscriminately in polymalformations syndromes by other authors. Osteoarticular (clubfoot, polydactyly) and cardiac malformations rank second (15.6%). It is interesting to note that neural tube defects are less frequent (6th position) than in other African series [14]. This could indicate the beginning of the effectiveness of the folic acid supplementation policy, from which 82.5% of our pregnant women benefited, corroborating Honein’s observations on the impact of fortification [15].

Our study illustrates the “genetic divide” between the North and the South. A definitive diagnosis (karyotype) was only made in 3 patients (3.8%) due to a lack of financial resources and accessible laboratories. This lack of an etiological diagnosis prevents accurate genetic counseling for future pregnancies, leaving families in uncertainty. In terms of treatment, the rate of curative surgery is alarming (12.5%). Most patients (87.5%) received palliative or expectant care. Unlike developed countries where neonatal surgery is standardized, we face a critical shortage of technical facilities that condemns children with conditions that are curable elsewhere (omphaloceles, digestive atresia).

No parents received formal psychological support, a finding shared by Oulai in Côte d’Ivoire [16]. The announcement of a disability at birth is a violent trauma, often aggravated by cultural beliefs that induce guilt. The absence of psychologists in the maternity and neonatal wards at CHNEAR is a major shortcoming that isolates families in their distress.

With an in-hospital case fatality rate of 55%, our series reveals a grim prognosis, much more severe than the 33% in Cameroon [8]. This excess case fatality rate can be explained by the severity of the cases recruited and the lack of immediate surgical solutions. The mortality was primarily driven by multiple malformations (31.8% of deaths) and complex heart conditions (27.3% of deaths). However, the prognosis is worsened by classic neonatal vulnerability factors: 32% of newborns were preterm and 20% weighed less than 2 kg. In the absence of immediate curative surgical solutions for 87.5% of patients, these comorbidities contribute synergistically to the fatal outcome. Case fatality rate is particularly critical among abdominal wall defects (60%), confirming that without improvements in surgical facilities, the survival of these newborns remains compromised.

The overall mortality rate of 55% observed at CHNEAR is particularly alarming. This disparity can be explained by our status as a level 3 referral centre. However, the international study PaedSurg Africa published in The Lancet (2021) demonstrates that mortality in low-income countries is seven times higher than in high-income countries, mainly due to delays in transfer and a lack of surgical intensive care units [17]. In our series, the interaction between the anatomical abnormality, prematurity (32%) and low birth weight (20%) creates extreme vulnerability.

The single-center and hospital-based nature of the study constitutes a selection bias, as it does not reflect actual community mortality (deaths at home). In addition, the lack of genetic confirmation for most dysmorphic syndromes limits the nosological accuracy of our results.