Matches in SemOpenAlex for { <https://semopenalex.org/work/W2896512032> ?p ?o ?g. }
Showing items 1 to 69 of
69
with 100 items per page.
- W2896512032 endingPage "142" @default.
- W2896512032 startingPage "142" @default.
- W2896512032 abstract "To study the efficacy of antenatal ultrasound (USG) for early detection of Beckwith–Weidemann Syndrome (BWS). Antenatal USG findings of 5 fetuses with BWS confirmed by methylation study or histology were analysed. Amongst the 5 fetuses with BWS, 4 (80%) had typical USG features. Two (40%) fetuses presented in the 1st trimester, one with omphalocele and the other with diffuse cystic placentomegaly, while the other 2 (40%) presented in the 2nd trimester with nephromegaly. All 4 (80%) fetuses were large for date and 3 (60%) developed polyhydramnios. All 4 (80%) fetuses had macroglossia but this feature only appeared in late 2nd or 3rd trimester. Three (60%) fetuses had diffused cystic placentomegaly with one being a 1st trimester presenting feature. Two fetuses had H19DMR hypermethylation and 1 had KvDMR hypomethylation. The fetus with omphalocele had no methylation defect and normal CDKN1C sequencing, but was still diagnosed to have BWS because of typical features of macroglossia, organomegaly, adrenal cytomegaly, islet cell hyperplasia and placental mesenchymal dysplasia on histological examination after miscarriage. The only fetus with no USG feature of BWS had mild ventriculomegaly only, but developed hypoglycemia and progressive macroglossia after birth. Genetic study showed KvDMR hypomethylation. Most (80%) fetuses with BWS had typical USG features which can be detected in the 1st trimester in 40% of cases. Omphalocele is a typical feature but its absence does not rule out the diagnosis. Other features like nephromegaly and diffuse cystic placentomegaly are important early clues. Large for date, polyhydramnios and macroglossia may only appear in late 2nd or 3rd trimester or even after birth. Absence of methylation defect does not rule out the diagnosis as up to 15% of BWS has no detectable genetic defect. Vigilance for typical USG features of BWS would help to diagnose the condition early. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
- W2896512032 created "2018-10-26" @default.
- W2896512032 creator A5060945483 @default.
- W2896512032 date "2018-10-01" @default.
- W2896512032 modified "2023-10-18" @default.
- W2896512032 title "P02.03: Antenatal ultrasound detection of Beckwith-Weidemann syndrome" @default.
- W2896512032 doi "https://doi.org/10.1002/uog.19627" @default.
- W2896512032 hasPublicationYear "2018" @default.
- W2896512032 type Work @default.
- W2896512032 sameAs 2896512032 @default.
- W2896512032 citedByCount "0" @default.
- W2896512032 crossrefType "journal-article" @default.
- W2896512032 hasAuthorship W2896512032A5060945483 @default.
- W2896512032 hasBestOaLocation W28965120321 @default.
- W2896512032 hasConcept C104317684 @default.
- W2896512032 hasConcept C131872663 @default.
- W2896512032 hasConcept C142724271 @default.
- W2896512032 hasConcept C150194340 @default.
- W2896512032 hasConcept C172680121 @default.
- W2896512032 hasConcept C185592680 @default.
- W2896512032 hasConcept C190727270 @default.
- W2896512032 hasConcept C2776907564 @default.
- W2896512032 hasConcept C2777575177 @default.
- W2896512032 hasConcept C2778487983 @default.
- W2896512032 hasConcept C2779234561 @default.
- W2896512032 hasConcept C2779744641 @default.
- W2896512032 hasConcept C2780067814 @default.
- W2896512032 hasConcept C54355233 @default.
- W2896512032 hasConcept C55493867 @default.
- W2896512032 hasConcept C71924100 @default.
- W2896512032 hasConcept C86803240 @default.
- W2896512032 hasConceptScore W2896512032C104317684 @default.
- W2896512032 hasConceptScore W2896512032C131872663 @default.
- W2896512032 hasConceptScore W2896512032C142724271 @default.
- W2896512032 hasConceptScore W2896512032C150194340 @default.
- W2896512032 hasConceptScore W2896512032C172680121 @default.
- W2896512032 hasConceptScore W2896512032C185592680 @default.
- W2896512032 hasConceptScore W2896512032C190727270 @default.
- W2896512032 hasConceptScore W2896512032C2776907564 @default.
- W2896512032 hasConceptScore W2896512032C2777575177 @default.
- W2896512032 hasConceptScore W2896512032C2778487983 @default.
- W2896512032 hasConceptScore W2896512032C2779234561 @default.
- W2896512032 hasConceptScore W2896512032C2779744641 @default.
- W2896512032 hasConceptScore W2896512032C2780067814 @default.
- W2896512032 hasConceptScore W2896512032C54355233 @default.
- W2896512032 hasConceptScore W2896512032C55493867 @default.
- W2896512032 hasConceptScore W2896512032C71924100 @default.
- W2896512032 hasConceptScore W2896512032C86803240 @default.
- W2896512032 hasIssue "S1" @default.
- W2896512032 hasLocation W28965120321 @default.
- W2896512032 hasOpenAccess W2896512032 @default.
- W2896512032 hasPrimaryLocation W28965120321 @default.
- W2896512032 hasRelatedWork W1968194655 @default.
- W2896512032 hasRelatedWork W1989562431 @default.
- W2896512032 hasRelatedWork W2006449990 @default.
- W2896512032 hasRelatedWork W2091569370 @default.
- W2896512032 hasRelatedWork W2119762242 @default.
- W2896512032 hasRelatedWork W2408821781 @default.
- W2896512032 hasRelatedWork W2510249957 @default.
- W2896512032 hasRelatedWork W2918127294 @default.
- W2896512032 hasRelatedWork W3003286486 @default.
- W2896512032 hasRelatedWork W3135364300 @default.
- W2896512032 hasVolume "52" @default.
- W2896512032 isParatext "false" @default.
- W2896512032 isRetracted "false" @default.
- W2896512032 magId "2896512032" @default.
- W2896512032 workType "article" @default.