Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma
نویسندگان
چکیده
منابع مشابه
Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma
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...
متن کاملPrenatal fetal karyotyping and maternal serum alpha-fetoprotein screening.
Prenatal karyotyping was undertaken in 569 consecutive amniotic fluid samples where the indication for amniocentesis was two sequential raised maternal serum alpha-fetoprotein concentrations. In 475 successful cultures five chromosome abnormalities were found--four constitutional anomalies (47,XXY; 47,XYY; an inherited inv(8) (p23q11); and a de-novo translocation t(6;7) (p11;p22) and a culture-...
متن کاملInitial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples
OBJECTIVE The aim of this study is to report the experience of noninvasive prenatal DNA testing using massively parallel sequencing in an accredited clinical laboratory. METHODS Laboratory information was examined for blood samples received for testing between February and November 2012 for chromosome 21 (Chr21), Chr18, and Chr13. Monosomy X (MX) testing was available from July 2012 for cysti...
متن کاملNoninvasive detection of a balanced fetal translocation from maternal plasma.
BACKGROUND Massively parallel sequencing of circulating cell free (ccf) DNA from maternal plasma has been demonstrated to be a powerful method for the detection of fetal copy number variations (CNVs). Although the detection of CNVs has been described by multiple independent groups, genomic aberrations resulting in copy number-neutral events including balanced translocations have proven to be mo...
متن کاملNoninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA.
BACKGROUND Epigenetic mechanisms play an important role in prenatal development, but fetal tissues are not readily accessible. Fetal DNA molecules are present in maternal plasma and can be analyzed noninvasively. METHODS We applied genomewide bisulfite sequencing via 2 approaches to analyze the methylation profile of maternal plasma DNA at single-nucleotide resolution. The first approach used...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2013
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0060968