FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2955122993> ?p ?o ?g. }

• W2955122993 endingPage "577" @default.
• W2955122993 startingPage "568" @default.
• W2955122993 abstract "The exponential rate at which genetic testing has been integrated into routine and high-risk obstetric care has been exciting to watch. With this technical explosion, however, the knowledge surrounding the benefits and limitations of prenatal genetic and newborn screening can be overlooked by both parents and providers. The following case exemplifies how a couple with infertility who underwent comprehensive prenatal expanded genetic carrier screening and parental karyotype experienced the benefits and limitations of such testing. It guides the reader through diagnostic testing for an infant, born to a father with a balanced translocation, who presented with an abnormal newborn screening result for an inherited metabolic disorder of fatty acid oxidation metabolism, very-long-chain acyl-coenzyme dehydrogenase deficiency, for which the prenatal expanded carrier screening result was negative. The exponential rate at which genetic testing has been integrated into routine and high-risk obstetric care has been exciting to watch. With this technical explosion, however, the knowledge surrounding the benefits and limitations of prenatal genetic and newborn screening can be overlooked by both parents and providers. The following case exemplifies how a couple with infertility who underwent comprehensive prenatal expanded genetic carrier screening and parental karyotype experienced the benefits and limitations of such testing. It guides the reader through diagnostic testing for an infant, born to a father with a balanced translocation, who presented with an abnormal newborn screening result for an inherited metabolic disorder of fatty acid oxidation metabolism, very-long-chain acyl-coenzyme dehydrogenase deficiency, for which the prenatal expanded carrier screening result was negative. Sharon Anderson, Associate Professor and Assistant Dean, Division of Advanced Nursing Practice, School of Nursing, Rutgers, The State University of New Jersey, Newark, NJ; and Advanced Practice Nurse, Medical Genetics, Child Health Institute of New Jersey, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, New Brunswick, NJ. Christina Botti, Assistant Professor and Licensed Genetic Counselor, Medical Genetics, Child Health Institute of New Jersey, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, New Brunswick, NJ." @default.
• W2955122993 created "2019-07-12" @default.
• W2955122993 creator A5036467421 @default.
• W2955122993 creator A5066916787 @default.
• W2955122993 date "2019-09-01" @default.
• W2955122993 modified "2023-09-25" @default.
• W2955122993 title "Expanded Prenatal Genetic and Newborn Screening: One Family's Wild Ride" @default.
• W2955122993 cites W1981143142 @default.
• W2955122993 cites W2064476132 @default.
• W2955122993 cites W2082811006 @default.
• W2955122993 cites W2116321627 @default.
• W2955122993 cites W2197721327 @default.
• W2955122993 cites W2419247756 @default.
• W2955122993 cites W2769799854 @default.
• W2955122993 cites W2884501029 @default.
• W2955122993 cites W2105908054 @default.
• W2955122993 doi "https://doi.org/10.1016/j.pedhc.2019.03.001" @default.
• W2955122993 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31248636" @default.
• W2955122993 hasPublicationYear "2019" @default.
• W2955122993 type Work @default.
• W2955122993 sameAs 2955122993 @default.
• W2955122993 citedByCount "0" @default.
• W2955122993 crossrefType "journal-article" @default.
• W2955122993 hasAuthorship W2955122993A5036467421 @default.
• W2955122993 hasAuthorship W2955122993A5066916787 @default.
• W2955122993 hasConcept C118552586 @default.
• W2955122993 hasConcept C126322002 @default.
• W2955122993 hasConcept C172680121 @default.
• W2955122993 hasConcept C187212893 @default.
• W2955122993 hasConcept C2775887326 @default.
• W2955122993 hasConcept C2776169613 @default.
• W2955122993 hasConcept C2778258057 @default.
• W2955122993 hasConcept C2779234561 @default.
• W2955122993 hasConcept C2780673598 @default.
• W2955122993 hasConcept C54355233 @default.
• W2955122993 hasConcept C71924100 @default.
• W2955122993 hasConcept C80227256 @default.
• W2955122993 hasConcept C86803240 @default.
• W2955122993 hasConceptScore W2955122993C118552586 @default.
• W2955122993 hasConceptScore W2955122993C126322002 @default.
• W2955122993 hasConceptScore W2955122993C172680121 @default.
• W2955122993 hasConceptScore W2955122993C187212893 @default.
• W2955122993 hasConceptScore W2955122993C2775887326 @default.
• W2955122993 hasConceptScore W2955122993C2776169613 @default.
• W2955122993 hasConceptScore W2955122993C2778258057 @default.
• W2955122993 hasConceptScore W2955122993C2779234561 @default.
• W2955122993 hasConceptScore W2955122993C2780673598 @default.
• W2955122993 hasConceptScore W2955122993C54355233 @default.
• W2955122993 hasConceptScore W2955122993C71924100 @default.
• W2955122993 hasConceptScore W2955122993C80227256 @default.
• W2955122993 hasConceptScore W2955122993C86803240 @default.
• W2955122993 hasIssue "5" @default.
• W2955122993 hasLocation W29551229931 @default.
• W2955122993 hasLocation W29551229932 @default.
• W2955122993 hasOpenAccess W2955122993 @default.
• W2955122993 hasPrimaryLocation W29551229931 @default.
• W2955122993 hasRelatedWork W1997508362 @default.
• W2955122993 hasRelatedWork W2038517326 @default.
• W2955122993 hasRelatedWork W2045730730 @default.
• W2955122993 hasRelatedWork W2049543903 @default.
• W2955122993 hasRelatedWork W2560439010 @default.
• W2955122993 hasRelatedWork W2734174289 @default.
• W2955122993 hasRelatedWork W2737774898 @default.
• W2955122993 hasRelatedWork W2955122993 @default.
• W2955122993 hasRelatedWork W3025402803 @default.
• W2955122993 hasRelatedWork W4292940204 @default.
• W2955122993 hasVolume "33" @default.
• W2955122993 isParatext "false" @default.
• W2955122993 isRetracted "false" @default.
• W2955122993 magId "2955122993" @default.
• W2955122993 workType "article" @default.