Altered incidence of meiotic errors and Down syndrome birth under extreme low socioeconomic exposure in the Sundarban area of India

Ghosh, Sujoy; Ghosh, Prasenjit; Dey, Subrata Kumar

doi:10.1007/s12687-013-0159-8

Cited by 10 publications

(5 citation statements)

References 19 publications

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“…In Egypt, like other Middle Eastern countries, consanguinity rates fluctuate depending mainly on religious as well as cultural morals, especially in rural areas [22,24]. In the current study, 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]. These findings may be related to environmental and/or nutritional factors such as folic acid deficiency or pollution by pesticides [26,27].…”

Section: Discussionsupporting

confidence: 89%

The demographic data and the high frequency of chromosome/chromatid breaks as biomarkers for genome integrity have a role in predicting the susceptibility to have Down syndrome in a cohort of Egyptian young-aged mothers

El-Attar

Issa

Mahrous

2019

Egypt J Med Hum Genet

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Background 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. Results Fifty 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). Conclusion In 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.

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Section: Discussionsupporting

confidence: 89%

The demographic data and the high frequency of chromosome/chromatid breaks as biomarkers for genome integrity have a role in predicting the susceptibility to have Down syndrome in a cohort of Egyptian young-aged mothers

El-Attar

Issa

Mahrous

2019

Egypt J Med Hum Genet

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“…A molecular study found high differences in mean maternal ages between maternal origin cases and paternal origin cases. This demonstrated that the maternal age effect in Down syndrome is limited to maternal nondisjunction and does not provide evidence for a comfortable selection against trisomic fetuses in older women [20,21].…”

Section: Short Tandem Repeat (Str) Markers Used To Infer the Origin Omentioning

confidence: 90%

What Causes Down Syndrome?

Atlı¹

2022

Down Syndrome and Other Chromosome Abnormalities

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Trisomy 21 (Down Syndrome) is the model human phenotype for all genome gain-dosage imbalance situations, including microduplications. Years after the sequencing of chromosome 21, the discovery of functional genomics and the creation of multiple cellular and mouse models provided an unprecedented opportunity to demonstrate the molecular consequences of genome dosage imbalance. It was stated years ago that Down syndrome, caused by meiotic separation of chromosome 21 in humans, is associated with advanced maternal age, but defining and understanding other risk factors is insufficient. Commonly referred to as Down syndrome (DS) in humans, trisomy 21 is the most cited genetic cause of mental retardation. In about 95% of cases, the extra chromosome occurs as a result of meiotic non- nondisjunction (NDJ) or abnormal separation of chromosomes. In most of these cases the error occurs during maternal oogenesis, especially in meiosis I.

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“…Perhaps this is because most aneuploidies result in spontaneous fetal loss, exposure may precede pregnancy by many years, and generally miscarriages do not receive cytogenetic testing. Several studies have shown an association between maternal socio‐economic status and incidence of Down syndrome births , 84‐86 although this may reflect to some extent differences in the uptake of prenatal diagnosis and termination. Recently, it was noted that the odds of MII error were increased among production workers and within this group, those thought to be exposed to solvents may have been at increased risk for MI error 87 .…”

Section: Environmental Exposuresmentioning

confidence: 99%

Section: Environmental Exposuresmentioning

confidence: 99%

Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies

Cuckle

Benn

2020

Prenatal Diagnosis

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The birth prevalence of each common autosomal trisomy (21, 18 and 13) increases with advancing maternal age and this is the most important epidemiological risk factor. Prevalence during pregnancy is also dependent on gestational age. Other factors claimed to influence prevalence include paternal age, ethnicity, family history, premature reproductive aging, parity, twinning, smoking, environmental exposures, maternal medical conditions, and predispositions. We review the evidence for these associations since they may provide insights into causal mechanisms. When investigating potential co‐factors it is important to adequately allow for maternal age and minimize its confounding contribution. This is well illustrated by reports of an inverse paternal age effect where there is strong correlation between parental ages. Gestational age at diagnosis, availability of prenatal screening, diagnostic testing, and elective termination of affected pregnancies and healthcare disparities also confound the studies on ethnicity, medical conditions, and predispositions or environmental factors. Data from twin zygosity studies demonstrate the importance of differences in fetal viability for affected pregnancies. We conclude that existing epidemiological evidence for most of the co‐factors discussed should currently be considered tenuous; history of Down syndrome, albeit biased, may be an exception. The co‐factors may yet provide clues to hitherto poorly understood causal pathways.

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Altered incidence of meiotic errors and Down syndrome birth under extreme low socioeconomic exposure in the Sundarban area of India

Cited by 10 publications

References 19 publications

The demographic data and the high frequency of chromosome/chromatid breaks as biomarkers for genome integrity have a role in predicting the susceptibility to have Down syndrome in a cohort of Egyptian young-aged mothers

The demographic data and the high frequency of chromosome/chromatid breaks as biomarkers for genome integrity have a role in predicting the susceptibility to have Down syndrome in a cohort of Egyptian young-aged mothers

What Causes Down Syndrome?

Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies

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