Abstract
BackgroundDown syndrome (DS) is a common numerical chromosome disorder that has its burden on both family and community. The well-known risk factor for chromosome 21 nondisjunction is advanced maternal age which failed to explain the occurrence of Down syndrome born to mothers less than 35 years. This study aimed to assess the effect of demographic data (consanguinity, residency area, and socioeconomic state) and chromosome/chromatid breaks as biomarkers for genome integrity on the susceptibility of young mothers to have a child with Down syndrome.ResultsFifty mothers with a history of at least one DS pregnancy before the age of 35 were compared to 50 control mothers. There was a significant increase in DS births in consanguineous parents (46%) compared to 20% in non-consanguineous ones (OR = 3.40; 95% CI = 1.4–8.20, P = 0.006). Young mothers with DS children were more likely to be from rural areas (60%) than urban areas (40%) (OR = 2.66; 95%, CI = 1.18–5.98, P = 0.017) and of a low socioeconomic status (62%) rather than a high socioeconomic status (38%) (OR = 3.80; 95%, CI = 1.65–8.74, P = 0.001).Chromosome/chromatid breaks were detected in 76% of DS young mothers and 32% of control mothers (P < 0.001). There was an odds ratio of chromatid breaks of 8.50 (3.411–21.17) and chromosome breaks of 3.93 (1.40–11.05) with significant difference between the studied groups (P < 0.001 and P = 0.009 respectively).ConclusionIn addition to advanced maternal age, consanguinity, residency in rural areas, and low socioeconomic status could be considered as possible risk factors for Down syndrome. The high frequency of chromosome/chromatid breaks in young mothers with a previous history of DS children highlights the impact of genome integrity on the tendency to chromosome 21 nondisjunction. These findings are valuable in predicting having a Down syndrome baby and providing proper genetic counseling for high-risk families.
Highlights
Down syndrome (DS) is a common numerical chromosome disorder that has its burden on both family and community
We found a significant increase of the frequency and mean of chromatid breaks in mothers with DS children compared to the control group (OR = 8.50; 95%, confidence interval (CI) = 3.411–21.17, P < 0.001)
By comparison to control mothers, young mothers with DS children were more likely to be from rural areas (60%) than urban areas (40%) and of a low socioeconomic status (62%) rather than a high socioeconomic status (38%), and these data match with a previous report from India [25]
Summary
Down syndrome (DS) is a common numerical chromosome disorder that has its burden on both family and community. The well-known risk factor for chromosome 21 nondisjunction is advanced maternal age which failed to explain the occurrence of Down syndrome born to mothers less than 35 years. This study aimed to assess the effect of demographic data (consanguinity, residency area, and socioeconomic state) and chromosome/ chromatid breaks as biomarkers for genome integrity on the susceptibility of young mothers to have a child with Down syndrome. Affected patients had a combination of mental retardation and characteristic faces. Down syndrome (DS) is one of the commonest chromosomal abnormalities seen in neonates, and it is considered one of the commonest causes of mild to moderate mental retardation in children. Patients with DS have higher mortality and morbidity rates than normal populations. A decrease in mortality rates among affected children was recorded and attributed to improved early diagnostic and management health services [3, 4]
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