Rapid aneuploidy detection or karyotyping? Ethical reflection
نویسندگان
چکیده
منابع مشابه
Rapid Aneuploidy Testing, Traditional Karyotyping, or Both, in Prenatal Diagnosis
HKJGOM 2005; 5 (1) 33 Introduction The most frequent foetal chromosomal abnormalities involve the autosomes 21, 18, 13 and sex chromosomes X and Y. Aneuploidy or alterations in copy number of these chromosomes, including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), 45,X (Turner syndrome), 47,XXY (Klinefelter syndrome) and Triploidy (presence of 3 copie...
متن کاملThe impact of rapid aneuploidy detection (RAD) in addition to karyotyping versus karyotyping on maternal quality of life.
OBJECTIVE To assess the impact of rapid aneuploidy detection (RAD) combined with fetal karyotyping versus karyotyping only on maternal anxiety and health-related quality of life. METHODS Women choosing to undergo amniocentesis were selected into group 1, i.e. receiving a karyotype result only (n = 132) or to group 2, i.e. receiving both the result of RAD and karyotyping (n = 181). RESULTS T...
متن کاملMolecular methods for rapid detection of aneuploidy.
Rapid molecular biological methods for prenatal diagnosis of the most common aneuploidies, collectively known as rapid aneuploidy testing, are compared in this review. We discuss methodological problems and limitations of these various methods. All these techniques are believed to be accurate and carry a low risk of misdiagnosis, but they differ in terms of labour-intensity and amenability to a...
متن کاملRapid aneuploidy testing versus traditional karyotyping: is it better to know more?
Chromosomal anomalies remain the commonest cause of mental retardation and congenital malformation. Traditionally, the prenatal diagnosis of chromosomal aberration relies on cytogenetic analysis of the cells obtained from amniocentesis or chorionic villus sampling (CVS). First, the amniotic fluid or chorionic villi samples need to be cultured for 14 days or more before adequate foetal cells can...
متن کاملChromosome-scale mega-haplotypes enable digital karyotyping of cancer aneuploidy
Genomic instability is a frequently occurring feature of cancer that involves large-scale structural alterations. These somatic changes in chromosome structure include duplication of entire chromosome arms and aneuploidy where chromosomes are duplicated beyond normal diploid content. However, the accurate determination of aneuploidy events in cancer genomes is a challenge. Recent advances in se...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.82