Rapid Prenatal Testing Using Semiconductor Sequencing?
نویسندگان
چکیده
منابع مشابه
Rapid prenatal testing using semiconductor sequencing?
Recent developments in sequencing technology have had a large impact in several areas of human genetics. One area in which the implementation of this new technology is closest to clinical use is prenatal testing. One tube of blood drawn from a pregnant woman is sufficient for testing the unborn child for Down syndrome with high diagnostic sensitivity and specificity. Approximately 10% of the DN...
متن کاملImplementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory
OBJECTIVES To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples. METHODS We validated a NIPT protocol for cell-free fetal DNA sequencing from maternal plasma for the detection of trisomy 13, 18 and 21 on a semiconductor sequencing instrument...
متن کاملNoninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.
Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconduct...
متن کاملRapid 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 کاملFeasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy.
BACKGROUND Noninvasive prenatal detection of common fetal aneuploidies with cell-free DNA from maternal plasma has been achieved with high-throughput next-generation sequencing platforms. Turnaround times for previously tested platforms are still unsatisfactory for clinical applications, however, because of the time spent on sequencing. The development of semiconductor sequencing technology has...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2013
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2013.203299