Detection of fetal duplication 16p11.2q12.1 by next-generation sequencing of maternal plasma and invasive diagnosis

scientific article published on 7 September 2017

Detection of fetal duplication 16p11.2q12.1 by next-generation sequencing of maternal plasma and invasive diagnosis is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1080/14767058.2017.1369947
P698PubMed publication ID28882078

P2093author name stringMin Chen
Ling Pan
Min-Yue Dong
Li-Ya Wang
Ye-Qing Qian
Xiao-Ying Fu
Yu-Qin Luo
P2860cites workDiscordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic diseaseQ44602113
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal bloodQ44645735
A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencingQ45049473
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factorsQ46446186
Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma.Q50674465
Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma.Q50955444
Association of non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics.Q51041190
Presence of fetal DNA in maternal plasma and serumQ57075132
Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical serviceQ58028956
Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future ProspectsQ26827338
Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and diseaseQ26991553
Association between microdeletion and microduplication at 16p11.2 and autismQ28264205
Integrated detection and population-genetic analysis of SNPs and copy number variationQ29614584
Historical prospective of human cytogenetics: from microscope to microarrayQ31073683
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencingQ33665399
Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencingQ33760408
Molecular karyotyping: from microscope to SNP arraysQ34002263
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencingQ34256640
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.Q34385131
Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidiesQ34496747
Noninvasive prenatal molecular karyotyping from maternal plasmaQ34683906
Noninvasive prenatal diagnosis of a fetal microdeletion syndromeQ35020502
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysisQ35552815
Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing TwinsQ35667120
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningQ36184534
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.Q36543046
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasmaQ36595101
Copy number variants, diseases and gene expressionQ37417891
WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme.Q37631891
The role of copy number variation in schizophreniaQ37658896
The clinical context of copy number variation in the human genomeQ37704614
Non-invasive prenatal testing for aneuploidy: current status and future prospectsQ38114375
Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results.Q39024055
A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q.Q41933233
P4510describes a project that usesmassive parallel sequencingQ6784807
P304page(s)1-8
P577publication date2017-09-07
P1433published inJournal of Maternal-Fetal and Neonatal MedicineQ6295498
P1476titleDetection of fetal duplication 16p11.2q12.1 by next-generation sequencing of maternal plasma and invasive diagnosis

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