Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell- free fetal DNA in maternal plasma: The first clinical experience in Korea
نویسندگان
چکیده
mostly trisomy 21, relies exclusively on biochemical and sonographic measurements performed in the first and second trimesters. With a 3-5% false-positive rate, first-trimester screening achieves a detection rate of about 60-95% for trisomy 21 [1-3]. In 1997, Lo et al. [4] first demonstrated the presence Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cellfree fetal DNA in maternal plasma: The first clinical experience in Korea
منابع مشابه
O-45: Quantification of Cell-Free-Fetal-DNAfrom Maternal Plasma for the First Time in Pakistan:Implications for Non-Invasive PrenatalDiagnosis of Genetic Disorders
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Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either...
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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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