FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2071306090> ?p ?o ?g. }

• W2071306090 endingPage "52" @default.
• W2071306090 startingPage "46" @default.
• W2071306090 abstract "Aims The main aim of this study was to determine the feasibility of using high‐resolution microarray to assist with prenatal diagnosis of ultrasound‐detected fetal abnormality and to describe the frequency of abnormal results in different categories of fetal anomalies. Methods Prospective cross‐sectional study was conducted on women diagnosed with a fetal anomaly (ies) between F ebruary 2009 and D ecember 2011 who were offered testing by microarray analysis ( A ffymetrix 2.7M SNP ) and fluorescent in situ hybridisation ( FISH ) instead of standard karyotyping. Fetal anomalies were categorised according to organ system involvement. Results One hundred and eighteen women consented to testing with microarray. Eleven of one hundred eighteen (9.3%) cases had aneuploidy detected by FISH . Of the remaining 107, 23 (21.5%) had an abnormality detected on microarray, only three of which would have been detected using the combination of six‐probe FISH and banded karyotype. The maximum expected yield for six‐probe FISH and karyotype was thus 14/118 (11.8%), compared to 34/118 (28.8%), P < 0.0001. Of the 23 abnormalities detected with microarray, 10 (43%) were pathogenic, six (26%) were long continuous stretches of homozygosity and seven (30%) were of uncertain significance. The maximum yield was in cases with cardiovascular (100%); multiple (40%); central nervous system ( CNS ) (25%) and skeletal (9%) abnormalities. Conclusion This study has confirmed the feasibility of translation of microarray into clinical practice. 11.8% (14/118) of the cases would have a genetic basis of an abnormality with a FISH and banded karyotype. This figure is approximately tripled to 28.8% (34/118) if we offer FISH and microarray. High yield for imbalances are multiple, cardiovascular, CNS and skeletal abnormalities." @default.
• W2071306090 created "2016-06-24" @default.
• W2071306090 creator A5003505028 @default.
• W2071306090 creator A5011426945 @default.
• W2071306090 creator A5030566983 @default.
• W2071306090 creator A5035112499 @default.
• W2071306090 creator A5054490825 @default.
• W2071306090 creator A5082469134 @default.
• W2071306090 date "2014-01-28" @default.
• W2071306090 modified "2023-09-27" @default.
• W2071306090 title "High-resolution microarray in the assessment of fetal anomalies detected by ultrasound" @default.
• W2071306090 cites W1525915668 @default.
• W2071306090 cites W1626489144 @default.
• W2071306090 cites W1809088741 @default.
• W2071306090 cites W1815942373 @default.
• W2071306090 cites W1927806226 @default.
• W2071306090 cites W1927939230 @default.
• W2071306090 cites W1963591795 @default.
• W2071306090 cites W1964558503 @default.
• W2071306090 cites W1992796806 @default.
• W2071306090 cites W2001803024 @default.
• W2071306090 cites W2008322232 @default.
• W2071306090 cites W2024546340 @default.
• W2071306090 cites W2026355205 @default.
• W2071306090 cites W2047260293 @default.
• W2071306090 cites W2058827943 @default.
• W2071306090 cites W2060211948 @default.
• W2071306090 cites W2075455972 @default.
• W2071306090 cites W2082988863 @default.
• W2071306090 cites W2083215821 @default.
• W2071306090 cites W2108764418 @default.
• W2071306090 cites W2111964354 @default.
• W2071306090 cites W2119398611 @default.
• W2071306090 cites W2125454739 @default.
• W2071306090 cites W2130810543 @default.
• W2071306090 cites W2131587128 @default.
• W2071306090 cites W2166018182 @default.
• W2071306090 cites W4240113737 @default.
• W2071306090 doi "https://doi.org/10.1111/ajo.12170" @default.
• W2071306090 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24471846" @default.
• W2071306090 hasPublicationYear "2014" @default.
• W2071306090 type Work @default.
• W2071306090 sameAs 2071306090 @default.
• W2071306090 citedByCount "13" @default.
• W2071306090 countsByYear W20713060902015 @default.
• W2071306090 countsByYear W20713060902017 @default.
• W2071306090 countsByYear W20713060902018 @default.
• W2071306090 countsByYear W20713060902019 @default.
• W2071306090 countsByYear W20713060902021 @default.
• W2071306090 countsByYear W20713060902022 @default.
• W2071306090 crossrefType "journal-article" @default.
• W2071306090 hasAuthorship W2071306090A5003505028 @default.
• W2071306090 hasAuthorship W2071306090A5011426945 @default.
• W2071306090 hasAuthorship W2071306090A5030566983 @default.
• W2071306090 hasAuthorship W2071306090A5035112499 @default.
• W2071306090 hasAuthorship W2071306090A5054490825 @default.
• W2071306090 hasAuthorship W2071306090A5082469134 @default.
• W2071306090 hasConcept C104317684 @default.
• W2071306090 hasConcept C118552586 @default.
• W2071306090 hasConcept C122060243 @default.
• W2071306090 hasConcept C135763542 @default.
• W2071306090 hasConcept C142724271 @default.
• W2071306090 hasConcept C150194340 @default.
• W2071306090 hasConcept C153209595 @default.
• W2071306090 hasConcept C172680121 @default.
• W2071306090 hasConcept C186836561 @default.
• W2071306090 hasConcept C2779234561 @default.
• W2071306090 hasConcept C2779672484 @default.
• W2071306090 hasConcept C2780343435 @default.
• W2071306090 hasConcept C30481170 @default.
• W2071306090 hasConcept C46973012 @default.
• W2071306090 hasConcept C50965678 @default.
• W2071306090 hasConcept C53226629 @default.
• W2071306090 hasConcept C54355233 @default.
• W2071306090 hasConcept C60644358 @default.
• W2071306090 hasConcept C71924100 @default.
• W2071306090 hasConcept C8415881 @default.
• W2071306090 hasConcept C86803240 @default.
• W2071306090 hasConceptScore W2071306090C104317684 @default.
• W2071306090 hasConceptScore W2071306090C118552586 @default.
• W2071306090 hasConceptScore W2071306090C122060243 @default.
• W2071306090 hasConceptScore W2071306090C135763542 @default.
• W2071306090 hasConceptScore W2071306090C142724271 @default.
• W2071306090 hasConceptScore W2071306090C150194340 @default.
• W2071306090 hasConceptScore W2071306090C153209595 @default.
• W2071306090 hasConceptScore W2071306090C172680121 @default.
• W2071306090 hasConceptScore W2071306090C186836561 @default.
• W2071306090 hasConceptScore W2071306090C2779234561 @default.
• W2071306090 hasConceptScore W2071306090C2779672484 @default.
• W2071306090 hasConceptScore W2071306090C2780343435 @default.
• W2071306090 hasConceptScore W2071306090C30481170 @default.
• W2071306090 hasConceptScore W2071306090C46973012 @default.
• W2071306090 hasConceptScore W2071306090C50965678 @default.
• W2071306090 hasConceptScore W2071306090C53226629 @default.
• W2071306090 hasConceptScore W2071306090C54355233 @default.
• W2071306090 hasConceptScore W2071306090C60644358 @default.
• W2071306090 hasConceptScore W2071306090C71924100 @default.
• W2071306090 hasConceptScore W2071306090C8415881 @default.

• next