FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4310496598> ?p ?o ?g. }

• W4310496598 abstract "Abstract Background Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the association between phenotypic findings and rare autosomal aneuploidies (RAAs). We conducted a retrospective study of 48,904 cases for chromosomal microarray analysis in a large tertiary referral center and reported the overall frequencies, clinical manifestations, and outcomes of prenatal RAAs. Results A total of 90 RAAs were detected, of which 83 cases were mosaic trisomies and 7 were non-mosaic trisomies. Chromosomes 16, 22, and 9 were identified as the major chromosomes involving RAAs. The four predominant indications for prenatal diagnosis in our RAA cases were RAA-positive in noninvasive prenatal screening, advanced maternal age, ultrasound abnormalities, and high-risk for serum prenatal screening. Cardiovascular defects were the most frequently observed structural abnormalities, followed by musculoskeletal anomalies. Increased nuchal translucency and persistent left superior vena cava, the major soft marker abnormalities involved, were also observed in our RAA cases. Clinical outcomes were available for all RAAs, with 63 induced abortions and 27 live births recorded. Conclusions Variable phenotypes and outcomes were observed, which were highly heterogeneous in cases of prenatal RAAs. Thus, a cautious and comprehensive strategy should be implemented during prenatal counseling for RAAs." @default.
• W4310496598 created "2022-12-11" @default.
• W4310496598 creator A5013643897 @default.
• W4310496598 creator A5015846265 @default.
• W4310496598 creator A5017779678 @default.
• W4310496598 creator A5019504361 @default.
• W4310496598 creator A5021471823 @default.
• W4310496598 creator A5032328897 @default.
• W4310496598 creator A5049049393 @default.
• W4310496598 creator A5061813463 @default.
• W4310496598 creator A5074331759 @default.
• W4310496598 creator A5085363130 @default.
• W4310496598 date "2022-12-01" @default.
• W4310496598 modified "2023-10-11" @default.
• W4310496598 title "Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis" @default.
• W4310496598 cites W1789263561 @default.
• W4310496598 cites W1871011023 @default.
• W4310496598 cites W1919076226 @default.
• W4310496598 cites W1968942459 @default.
• W4310496598 cites W1983656250 @default.
• W4310496598 cites W1984993302 @default.
• W4310496598 cites W2023057915 @default.
• W4310496598 cites W2025127731 @default.
• W4310496598 cites W2039652609 @default.
• W4310496598 cites W2046566877 @default.
• W4310496598 cites W2058598625 @default.
• W4310496598 cites W2065226010 @default.
• W4310496598 cites W2075234291 @default.
• W4310496598 cites W2099650901 @default.
• W4310496598 cites W2102187103 @default.
• W4310496598 cites W2102228243 @default.
• W4310496598 cites W2104478010 @default.
• W4310496598 cites W2114609415 @default.
• W4310496598 cites W2115577573 @default.
• W4310496598 cites W2130019819 @default.
• W4310496598 cites W2130485141 @default.
• W4310496598 cites W2153850694 @default.
• W4310496598 cites W2185511594 @default.
• W4310496598 cites W2461979826 @default.
• W4310496598 cites W2561255164 @default.
• W4310496598 cites W2606503284 @default.
• W4310496598 cites W2626441827 @default.
• W4310496598 cites W2751499619 @default.
• W4310496598 cites W2753179511 @default.
• W4310496598 cites W2765822216 @default.
• W4310496598 cites W2810978880 @default.
• W4310496598 cites W2885252886 @default.
• W4310496598 cites W2888395439 @default.
• W4310496598 cites W2954504411 @default.
• W4310496598 cites W2966417962 @default.
• W4310496598 cites W2990104577 @default.
• W4310496598 cites W3017197162 @default.
• W4310496598 cites W3039280429 @default.
• W4310496598 cites W3084307296 @default.
• W4310496598 cites W3105401434 @default.
• W4310496598 cites W3194828795 @default.
• W4310496598 cites W4251038717 @default.
• W4310496598 cites W92549804 @default.
• W4310496598 doi "https://doi.org/10.1186/s40246-022-00438-4" @default.
• W4310496598 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36457118" @default.
• W4310496598 hasPublicationYear "2022" @default.
• W4310496598 type Work @default.
• W4310496598 citedByCount "1" @default.
• W4310496598 countsByYear W43104965982023 @default.
• W4310496598 crossrefType "journal-article" @default.
• W4310496598 hasAuthorship W4310496598A5013643897 @default.
• W4310496598 hasAuthorship W4310496598A5015846265 @default.
• W4310496598 hasAuthorship W4310496598A5017779678 @default.
• W4310496598 hasAuthorship W4310496598A5019504361 @default.
• W4310496598 hasAuthorship W4310496598A5021471823 @default.
• W4310496598 hasAuthorship W4310496598A5032328897 @default.
• W4310496598 hasAuthorship W4310496598A5049049393 @default.
• W4310496598 hasAuthorship W4310496598A5061813463 @default.
• W4310496598 hasAuthorship W4310496598A5074331759 @default.
• W4310496598 hasAuthorship W4310496598A5085363130 @default.
• W4310496598 hasBestOaLocation W43104965981 @default.
• W4310496598 hasConcept C104317684 @default.
• W4310496598 hasConcept C120821319 @default.
• W4310496598 hasConcept C131872663 @default.
• W4310496598 hasConcept C141231307 @default.
• W4310496598 hasConcept C172680121 @default.
• W4310496598 hasConcept C2776352029 @default.
• W4310496598 hasConcept C2778258057 @default.
• W4310496598 hasConcept C2779234561 @default.
• W4310496598 hasConcept C2779672484 @default.
• W4310496598 hasConcept C29456083 @default.
• W4310496598 hasConcept C30481170 @default.
• W4310496598 hasConcept C47042493 @default.
• W4310496598 hasConcept C54355233 @default.
• W4310496598 hasConcept C71924100 @default.
• W4310496598 hasConcept C80227256 @default.
• W4310496598 hasConcept C86803240 @default.
• W4310496598 hasConceptScore W4310496598C104317684 @default.
• W4310496598 hasConceptScore W4310496598C120821319 @default.
• W4310496598 hasConceptScore W4310496598C131872663 @default.
• W4310496598 hasConceptScore W4310496598C141231307 @default.
• W4310496598 hasConceptScore W4310496598C172680121 @default.
• W4310496598 hasConceptScore W4310496598C2776352029 @default.
• W4310496598 hasConceptScore W4310496598C2778258057 @default.
• W4310496598 hasConceptScore W4310496598C2779234561 @default.

• next