![]() ![]() Because of this increasingly better life expectancy, the number of imaging studies performed in DS patients is noticeably increasing, including neuroimaging studies. Recent medical advances have considerably enlarged the life span of people with DS, which is greater than 55 years, in economically developed countries. Additionally, DS may affect every organ system, including the central nervous system (CNS), the head and neck region, and the vertebral column. DS syndrome is also commonly associated with impairments in language, cognition, learning skills, and memory. There are several physical features characteristic of this syndrome present at birth, such as a brachycephalic shape of the head, an epicanthic fold, small and flat nose bridge, clinodactyly, single palmar crease, and augmented nuchal skin. The methods used for fetal screening are maternal age assessment, imaging markers in the first- and/or second-trimester ultrasounds, maternal serum biochemical testing, and, more recently, analysis of cell-free fetal DNA from maternal plasma. The prenatal screening of DS encompasses non-invasive methods that estimate the risk of having a child with DS, whereas definite diagnosis is made through genetic mapping of fetal cells. Nevertheless, the live birth prevalence remains stable, mainly due to the improvement and widespread availability of prenatal screening. It is well established that the risk for having DS affected baby increases with maternal age, with the chance of 1 in 69 for a woman with 40 years old at the time of delivery. During the last 20 years, there has been an increase of about 10% in the number of pregnancies with DS in Europe, which may be related to the increasing maternal age at conception. ![]() The World Health Organization estimates a DS incidence of about 1 in 1,000 to 1 in 1,100 live births. Down syndrome (DS), or trisomy 21, is the foremost genetic cause of intellectual incapacity worldwide. ![]()
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