Refining Noninvasive Prenatal Diagnosis with Single-Molecule Next-Generation Sequencing
نویسندگان
چکیده
منابع مشابه
Refining noninvasive prenatal diagnosis with single-molecule next-generation sequencing.
The gradual elimination of risky procedures used to sample fetal material for prenatal diagnosis has been an important objective in medicine. It is often stated that more fetuses are lost due to such invasive procedures (amniocentesis and chorionic villus sampling) than are identified as carrying a chromosomal abnormality. Noninvasive prenatal diagnosis (NIPD) has developed substantially since ...
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We report on a patient who had recurrent skeletal dysplasia in three of four of her pregnancies which all resulted in termination of pregnancies. The ultrasound and / or histological findings of her first and fourth pregnancy were suggestive of osteogenesis imperfecta while those in her second pregnancy were more suggestive of achondrogenesis. The exact diagnosis could not be made clinically at...
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In the last 30 years, invasive prenatal diagnosis has predominantly involved research into chromosomal anomalies, in particular Down’s Syndrome (1). In the last 10 years, parents have been requesting ever more information during pregnancy (2,3) and there has been an increase in the number of cases with ultrasound markers concerning possible fetal complications of unknown origin. This has led to...
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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...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2012
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2011.181388