Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype
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Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysisMicroarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single centerMicroarray comparative genomic hybridization in prenatal diagnosis: a reviewDiagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case seriesPrenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencingNoninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencingPerformance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohortScreening significantly hypermethylated genes in fetal tissues compared with maternal blood using a methylated-CpG island recovery assay-based microarray.Noninvasive prenatal molecular karyotyping from maternal plasma.The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomaliesClinical utility of noninvasive fetal trisomy (NIFTY) test--early experience.A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterizationEnlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.Genomic microarrays: a technology overview.Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis.Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities.Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature.Noninvasive prenatal testing for trisomy 21: challenges for implementation in Australia.Women's uptake of non-invasive DNA testing following a high-risk screening test for trisomy 21 within a publicly funded healthcare system: findings from a retrospective review.Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter).Recurrent increased nuchal translucency: a first trimester presentation of familial 13p satellite deletion.Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non-invasive prenatal testing?Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses.Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classificationPrenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings.Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first-line test: results from over 1000 consecutive cases.Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.The added value of detailed early anomaly scan in fetuses with increased nuchal translucency.Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.Cut-off value of nuchal translucency as indication for chromosomal microarray analysis.Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing.Women's preference for non-invasive prenatal DNA testing versus chromosomal microarray after screening for Down syndrome: a prospective study.Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.Association of non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics.Chromosomal microarray in fetuses with increased nuchal translucency.Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical serviceAnalysis of quality of nuchal translucency measurements: its role in prenatal diagnosis
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P2860
Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype
description
im August 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 10 August 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2011
@uk
name
Identification of submicroscop ...... nd apparently normal karyotype
@en
Identification of submicroscop ...... nd apparently normal karyotype
@nl
type
label
Identification of submicroscop ...... nd apparently normal karyotype
@en
Identification of submicroscop ...... nd apparently normal karyotype
@nl
prefLabel
Identification of submicroscop ...... nd apparently normal karyotype
@en
Identification of submicroscop ...... nd apparently normal karyotype
@nl
P2093
P2860
P50
P356
P1476
Identification of submicroscop ...... nd apparently normal karyotype
@en
P2093
P2860
P304
P356
10.1002/UOG.8988
P577
2011-08-10T00:00:00Z