Abstract
Background: Down syndrome is the most frequent genetic cause of intellectual disability, with an estimated birth prevalence of 14 per 10,000 live births. In Brazil, statistical data on the occurrence of babies born with Down syndrome remain unclear. We aimed to estimate the occurrence of Down syndrome between 2012 and 2018, and to observe its association with maternal, gestational, paternal characteristics, and newborn vitality. Methods: A retrospective study was carried out using secondary data included in the Certificate of Live Birth in a state located in the southeastern region of Brazil. Data analysis was performed in the software Stata 14.1. Pearson’s chi-square test for bivariate analysis, and logistic regression for multivariate analysis were performed, with a 95% confidence interval (CI) and a significance of 5%. Results: We observed that 157 cases of Down syndrome were reported among 386,571 live births, representing an incidence of 4 in 10,000 live births. Down syndrome was associated with maternal age ≥ 35 years, paternal age ≥ 30 years, the performance of six or more prenatal consultations, prematurity, and low birth weight (p < 0.05). Conclusions: Women aged 35 and over were more likely to have children born with Down syndrome. In addition, there is an association of Down syndrome with premature birth, low birth weight, and the number of prenatal consultations (≥6).
Highlights
In Block VI of the Certificate of Live Birth, entitled Congenital Anomaly, field 41 indicates that all anomalies or congenital defects observed by the person responsible for the birth or by the neonatologist must be reported, without hierarchy or attempt to group them into syndromes, prioritizing the description contained in the list of codes of the International Classification of Diseases (ICD-10)
We found that one in four births with Down syndrome (DS) weighed less than 2500 g (25.5%)
Our study showed that mothers carrying fetuses affected with DS were more likely to have frequent prenatal consultations (OR = 2.45, confidence interval (CI): 1.12–5.34) secondary to the associated congenital anomalies
Summary
Down syndrome (DS) is a genetic disorder resulting from trisomy of chromosome. 21 (whole or part), which occurs due to the failure of chromosome 21 to separate during gametogenesis, resulting in an extra chromosome in all body cells [1,2,3]. There are three main cytogenetic forms of DS: (i) free trisomy 21 consisting of a supplementary chromosome. 21 in all cells [4]; (ii) mosaic trisomy 21, which has two cell lineages, one with the normal number of chromosomes and another one with an extra chromosome 21 [5], with the mechanism of occurrence consisting of an error or misdivision following fertilization during cell division; and (iii) Robertsonian translocation trisomy 21, which occurs in only
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