Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening
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چکیده
منابع مشابه
Beyond Trisomy 21: Additional Chromosomal Anomalies Detected through Routine Aneuploidy Screening
Prenatal screening is often misconstrued by patients as screening for trisomy 21 alone; however, other chromosomal anomalies are often detected. This study aimed to systematically review the literature and use diagnostic meta-analysis to derive pooled detection and false positive rates for aneuploidies other than trisomy 21 with different prenatal screening tests. Non-invasive prenatal testing ...
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Noninvasive fetal aneuploidy [3] detection technology allows for the detection of fetal genetic conditions, specifically having three chromosomes, a condition called aneuploidy [3], by analyzing a simple blood sample from the pregnant woman. Dennis Lo and Rossa Chiu researched methods of detection of aneuploidies in the early twenty-first century. Their research has been specifically applied to...
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Phenotypic variability is a fundamental feature of the human population and is particularly evident among people with Down syndrome and/or Alzheimer's disease. Herein, we review current theories of the potential origins of this phenotypic variability and propose a novel mechanism based on our finding that the Alzheimer's disease-associated Aβ peptide, encoded on chromosome 21, disrupts the mito...
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Background: Prenatal diagnosis for Fetal Chromosomal anomalies currently relies on assessment of risk followed by a combination of biochemical and nuchal translucency. Trisomy 21 is the most common trisomy that is associated with intellectual disability. Pregnant women who receive a prenatal diagnosis of trisomy 21 currently have the option of continuing or terminating their pregnancy, but no f...
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This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screeni...
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ژورنال
عنوان ژورنال: Journal of Clinical Medicine
سال: 2014
ISSN: 2077-0383
DOI: 10.3390/jcm3020388