Prenatal testing for Down syndrome: The perspectives of parents of individuals with Down syndrome

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Prenatal Screening for Down Syndrome

Down syndrome ([DS] trisomy 21) is the most common cause of intellectual disability worldwide, affects approximately 1:500 pregnancies and is seen in 1:800 to 1:1,000 live births [1]. Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Genetic prenatal diagnosis (PD) for DS, since its introduction in the late 1960s, ...

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Prenatal Diagnosis of Down Syndrome

Chromosomal aberration is a phenomenon occurring relatively commonly in the development process. Chromosomal aberration is known to have various causes, and its frequency has been reported to vary particularly according to maternal age. Though different among reports, the frequency was around 0.6-0.8% in analysis with all childbirths1 and around 2-3% in case childbirths were reclassified based ...

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Down Syndrome: Current Status, Challenges and Future Perspectives

Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described ...

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Vocal Parameters of Adults with Down Syndrome in Zahedan /Iran

Background & Aims: Previous studies have indicated significant differences in vocal parameters between children with Down syndrome and normal children, but there are challenges about these differences. In this study vocal parameters and Maximum Phonation Time (MPT) in adults with Down syndrome have been investigated. Method: This cross-sectional and analytic study was performed on 22 adults wit...

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ژورنال

عنوان ژورنال: American Journal of Medical Genetics Part A

سال: 2012

ISSN: 1552-4825

DOI: 10.1002/ajmg.a.35238