Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies

Abstract

The evaluation of minor physical variation is crucial in a dysmorphological examination. Currently, data on the spectrum and incidence of minor physical variants in Central African newborns is lacking. We therefore conducted a cross‐sectional descriptive study of 722 newborns recruited within the first 24 hr of life, in two large maternities in Kinshasa, DR Congo. Minor anomalies were defined according to the series of articles in AJMG Part A and coded as human phenotype ontology terms. A total of 97 different morphological variants were recorded of which 13 were common. About 34.8% of the newborn carried one minor anomaly, 11.6% had two, and 4.3% had three minor anomalies. No gender differences were observed, but the incidence of specific anomalies appeared to vary with the geographical origin of parents within the DR Congo. The results of this study will aid clinicians to interpret morphological variation in Central African newborns.

Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo

“…This cohort was specifically studied since it was more likely to be enriched in major anomalies and thus being more informative. Indeed, in this cohort the incidence of major anomalies was 15.6%, which is higher compared to the incidence of 2.2% in an unselected population of newborns in the same city (Mubungu et al, 2020). This figure may underestimate the true prevalence of major anomalies, since access to imaging of the internal organs is highly restricted in the DR Congo and only performed when there are clinical indications for specific malformations.…”

“…Table 1 presents the spectrum and prevalence of 62 different minor variants and anomalies that were observed in this study, along with their prevalence in a reference population of unselected newborns in Kinshasa (Mubungu et al, 2020). In total, 13 morphological anomalies were observed in the NICU but not in the reference population.…”

“…This increased importance of congenital malformations on neonatal mortality in low‐ and middle‐income countries underscores the need to build up expertise in the evaluation of dysmorphological features in newborns and in the management of major congenital anomalies. In a previous study of unselected newborns born in two maternities in Kinshasa, DR Congo, we detected a prevalence of major anomalies of at least 2.2% and dysmorphism in 4.3% (Mubungu et al, 2020). However, we were not able to evaluate the known association of multiple minor anomalies with an increased risk of a major malformation (Hennekam, 2011) nor their contribution to the mortality.…”

“…All children were examined by the same clinician (GM). This included biometry, neurological examination, evaluation of dysmorphism and clinical photography, as described previously (Mubungu et al, 2020). A congenital physical anomaly was defined as an anatomic phenotype that deviates substantially from an appropriate reference population (Hennekam et al, 2013).…”

“…All children were examined by the same clinician (GM). This included biometry, neurological examination, evaluation of dysmorphism and clinical photography, as described previously (Mubungu et al, 2020).…”