Whole genome sequencing based noninvasive prenatal test
نویسنده
چکیده
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 the targeted sequencing method (either chromosome selective or single nucleotide polymorphism based) and those that use differences in methylation patterns between maternal and fetal DNA, WGS-based NIPT has an advantage in scanning genome wide abnormalities. Therefore, WGS-based NIPT companies are putting significant effort into improving the accuracy of tests that detect clinically relevant Whole genome sequencing based noninvasive prenatal test
منابع مشابه
Clinical outcome of subchromosomal events detected by whole‐genome noninvasive prenatal testing
OBJECTIVE A novel algorithm to identify fetal microdeletion events in maternal plasma has been developed and used in clinical laboratory-based noninvasive prenatal testing. We used this approach to identify the subchromosomal events 5pdel, 22q11del, 15qdel, 1p36del, 4pdel, 11qdel, and 8qdel in routine testing. We describe the clinical outcomes of those samples identified with these subchromosom...
متن کاملNoninvasive fetal genome sequencing: a primer.
We recently demonstrated whole genome sequencing of a human fetus using only parental DNA samples and plasma from the pregnant mother. This proof-of-concept study demonstrated how samples obtained noninvasively in the first or second trimester can be analyzed to yield a highly accurate and substantially complete genetic profile of the fetus, including both inherited and de novo variation. Here,...
متن کاملMaternal plasma sequencing: a powerful tool towards fetal whole genome recovery
Noninvasive prenatal diagnosis of chromosomal aneuploidies, although challenging, has been achieved through the implementation of novel methodologies such as methylated DNA immunoprecipitation and next generation sequencing technologies. Nevertheless, additional developments are required towards the interpretation of other fetal abnormalities of higher complexity, such as de novo mutations incl...
متن کاملComment on “Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods”
This correspondence is in reference to the article entitled, ‘Noninvasive Prenatal Screening at Low Fetal Fraction: Comparing Whole-Genome Sequencing and Single-Nucleotide Polymorphism Methods’ by Artieri, et al., which was recently published in Prenatal Diagnosis. The objective of the publication was to compare the performance of two non-invasive prenatal testing (NIPT) methods, whole-genome s...
متن کاملNoninvasive 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 کامل