Matches in SemOpenAlex for { <https://semopenalex.org/work/W2947530475> ?p ?o ?g. }
Showing items 1 to 85 of
85
with 100 items per page.
- W2947530475 endingPage "3" @default.
- W2947530475 startingPage "1" @default.
- W2947530475 abstract "Consanguinity is defined as a relationship with one recent ancestor in common. We present a Muslim couple with known consanguinity and their fetal outcomes over multiple pregnancies. This patient is a 28 yo G4P0300 who is married to her fourth cousin. Her first pregnancy was in Egypt during which a fetal demise was diagnosed at 21 weeks. Her second pregnancy ended in another fetal demise at 27 weeks and most organs were consistent with hydrops. Expanded carrier screening of both parents was negative. Her third pregnancy was complicated by hydropic changes at 21 weeks and fetal demise at 22 weeks. She consented to a trio whole exome sequence revealing a homozygous nonsense mutation c.1534A>T in the GBA gene. The mutation was found in the heterozygous state for each parent. Homozygosity for this mutation is associated with the perinatal lethal form of Gaucher disease, type 2. The patient was already 13 weeks pregnant when these results became available and she opted for a CVS procedure which confirmed that the fetus had not inherited any copies of the c.1534A>T mutation and was unaffected. While there is several case reports describing the Gaucher disease type 2, this case highlights the relevance of consanguinity. This case highlights the utility of whole exome sequencing in the setting of prenatal diagnosis and illustrates the significant limitations of expanded carrier screening when a genotyping panel is utilized with limited mutations per gene evaluated." @default.
- W2947530475 created "2019-06-07" @default.
- W2947530475 creator A5000597654 @default.
- W2947530475 creator A5024858933 @default.
- W2947530475 creator A5066495633 @default.
- W2947530475 creator A5088813099 @default.
- W2947530475 date "2019-01-01" @default.
- W2947530475 modified "2023-09-26" @default.
- W2947530475 title "Reproductive Implications of Consanguinity: Recurrent Hydrops and a Fetal Diagnosis of Lethal Gaucher Disease" @default.
- W2947530475 hasPublicationYear "2019" @default.
- W2947530475 type Work @default.
- W2947530475 sameAs 2947530475 @default.
- W2947530475 citedByCount "0" @default.
- W2947530475 crossrefType "journal-article" @default.
- W2947530475 hasAuthorship W2947530475A5000597654 @default.
- W2947530475 hasAuthorship W2947530475A5024858933 @default.
- W2947530475 hasAuthorship W2947530475A5066495633 @default.
- W2947530475 hasAuthorship W2947530475A5088813099 @default.
- W2947530475 hasConcept C104317684 @default.
- W2947530475 hasConcept C12125453 @default.
- W2947530475 hasConcept C126322002 @default.
- W2947530475 hasConcept C131872663 @default.
- W2947530475 hasConcept C16671776 @default.
- W2947530475 hasConcept C172680121 @default.
- W2947530475 hasConcept C187212893 @default.
- W2947530475 hasConcept C2777674756 @default.
- W2947530475 hasConcept C2778258057 @default.
- W2947530475 hasConcept C2779134260 @default.
- W2947530475 hasConcept C2779234561 @default.
- W2947530475 hasConcept C2779923321 @default.
- W2947530475 hasConcept C501734568 @default.
- W2947530475 hasConcept C54355233 @default.
- W2947530475 hasConcept C71924100 @default.
- W2947530475 hasConcept C75563809 @default.
- W2947530475 hasConcept C86803240 @default.
- W2947530475 hasConcept C96777560 @default.
- W2947530475 hasConceptScore W2947530475C104317684 @default.
- W2947530475 hasConceptScore W2947530475C12125453 @default.
- W2947530475 hasConceptScore W2947530475C126322002 @default.
- W2947530475 hasConceptScore W2947530475C131872663 @default.
- W2947530475 hasConceptScore W2947530475C16671776 @default.
- W2947530475 hasConceptScore W2947530475C172680121 @default.
- W2947530475 hasConceptScore W2947530475C187212893 @default.
- W2947530475 hasConceptScore W2947530475C2777674756 @default.
- W2947530475 hasConceptScore W2947530475C2778258057 @default.
- W2947530475 hasConceptScore W2947530475C2779134260 @default.
- W2947530475 hasConceptScore W2947530475C2779234561 @default.
- W2947530475 hasConceptScore W2947530475C2779923321 @default.
- W2947530475 hasConceptScore W2947530475C501734568 @default.
- W2947530475 hasConceptScore W2947530475C54355233 @default.
- W2947530475 hasConceptScore W2947530475C71924100 @default.
- W2947530475 hasConceptScore W2947530475C75563809 @default.
- W2947530475 hasConceptScore W2947530475C86803240 @default.
- W2947530475 hasConceptScore W2947530475C96777560 @default.
- W2947530475 hasIssue "1" @default.
- W2947530475 hasLocation W29475304751 @default.
- W2947530475 hasOpenAccess W2947530475 @default.
- W2947530475 hasPrimaryLocation W29475304751 @default.
- W2947530475 hasRelatedWork W1530222589 @default.
- W2947530475 hasRelatedWork W2044504499 @default.
- W2947530475 hasRelatedWork W2095748096 @default.
- W2947530475 hasRelatedWork W2118273499 @default.
- W2947530475 hasRelatedWork W2122882117 @default.
- W2947530475 hasRelatedWork W2266400736 @default.
- W2947530475 hasRelatedWork W2320235518 @default.
- W2947530475 hasRelatedWork W23620457 @default.
- W2947530475 hasRelatedWork W2416923951 @default.
- W2947530475 hasRelatedWork W2461391493 @default.
- W2947530475 hasRelatedWork W2803847646 @default.
- W2947530475 hasRelatedWork W2810107472 @default.
- W2947530475 hasRelatedWork W2898813278 @default.
- W2947530475 hasRelatedWork W3025775873 @default.
- W2947530475 hasRelatedWork W3081298123 @default.
- W2947530475 hasRelatedWork W3095459037 @default.
- W2947530475 hasRelatedWork W3127604592 @default.
- W2947530475 hasRelatedWork W750398649 @default.
- W2947530475 hasRelatedWork W171305590 @default.
- W2947530475 hasRelatedWork W2408192856 @default.
- W2947530475 hasVolume "2019" @default.
- W2947530475 isParatext "false" @default.
- W2947530475 isRetracted "false" @default.
- W2947530475 magId "2947530475" @default.
- W2947530475 workType "article" @default.