Noninvasive Prenatal Whole Genome Sequencing
نویسندگان
چکیده
منابع مشابه
Whole genome sequencing based noninvasive prenatal test
NIFTY test by BGI detects trisomies 13, 18, and 21 as well as some sex chromosome aneuploidies and selected microdeletions [3]. Verinata Health, a subsidiary of Illumina offers the Verifi test for detection of trisomies 13, 18, 21, and the presence of monosomy X. The expanded version of this test also detects other aneuploidies and microdeletions [4]. Compared to other NIPT techniques such as t...
متن کاملNoninvasive whole-genome sequencing of a human fetus.
Analysis of cell-free fetal DNA in maternal plasma holds promise for the development of noninvasive prenatal genetic diagnostics. Previous studies have been restricted to detection of fetal trisomies, to specific paternally inherited mutations, or to genotyping common polymorphisms using material obtained invasively, for example, through chorionic villus sampling. Here, we combine genome sequen...
متن کاملWhole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.
OBJECTIVE To investigate the feasibility of whole exome sequencing (WES) and whole genome re-sequencing (WGS) in the prenatal diagnosis of achondroplasia (ACH). METHODS Eleven highly suspected with ACH or hypochondroplasia (HCH) fetuses and their parents were enrolled in this study. Routine prenatal examinations were carried out in all pregnant women. WGS was performed for the detection of co...
متن کاملClinical diagnosis by whole-genome sequencing of a prenatal sample.
Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the precise, gene-level knowledge required to predict outcomes. The use of high-resolution whole-genome deep sequencing is currently impractical for the purpose of routine clinical care. We show here that whole-genome "jumping libraries" can offer an immediately applicable, n...
متن کاملResponse to “Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods”
This correspondence addresses the issues raised by Ryan and Martin in an accompanying letter to the editor regarding our published manuscript entitled “Noninvasive Prenatal Screening [NIPS] at Low Fetal Fraction: Comparing WholeGenome Sequencing and Single-Nucleotide Polymorphism Methods”. The aim of our study was to compare the performance and clinical consequences of the two main methods of N...
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ژورنال
عنوان ژورنال: Obstetrics & Gynecology
سال: 2019
ISSN: 0029-7844
DOI: 10.1097/aog.0000000000003121