Outcomes of children diagnosed antenatally with sex chromosome aneuploidies

Simple item page
dc.catalogadorpau
dc.contributor.authorAngley, Eleanor
dc.contributor.authorGrob Lunecke, Francisca
dc.contributor.authorMcGillivray, George
dc.contributor.authorArchibald, Alison
dc.contributor.authorFawcett, Susan
dc.contributor.authorHui, Lisa
dc.contributor.authorWelch, John
dc.contributor.authorZacharin, Margaret
dc.contributor.authorWhite, Mary
dc.date.accessioned2025-03-14T14:26:11Z
dc.date.available2025-03-14T14:26:11Z
dc.date.issued2024
dc.description.abstractNon-invasive prenatal testing (NIPT) identifies risk of potential foetal chromosomal anomalies. Sex chromosome aneuploidies (SCA) may be identified on NIPT, with 45,X (Turner Syndrome, TS) and 47,XXY (Klinefelter Syndrome (KS)) being the most common, occurring at a rate of 1/2000 liveborn females and 1/600 liveborn males respectively.1 Wide variation in severity is seen in both KS and TS with a need for lifelong specialist follow-up to ensure appropriate screening, diagnosis and management of potential associations.1 Historically, individuals with SCA were identified due to clinical features, and it is estimated that only 25% of KS males were identified.2 Despite increasing uptake of NIPT screening in Victoria3 there are no data on pregnancy or clinical outcomes of infants identified as being at high-risk of SCA.
dc.fuente.origenSCOPUS
dc.identifier.doi10.1111/jpc.16567
dc.identifier.issn1440-1754
dc.identifier.scopusidSCOPUS_ID:85193535022
dc.identifier.urihttps://doi.org/10.1111/jpc.16567
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/102621
dc.identifier.wosidWOS:001227763000001
dc.information.autorucEscuela de Medicina; Grob Lunecke, Francisca; 0000-0001-7685-9311; 209562
dc.issue.numero6
dc.language.isoen
dc.nota.accesocontenido parcial
dc.publisherJohn Wiley and Sons Inc
dc.revistaJournal of Paediatrics and Child Health
dc.rightsacceso restringido
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleOutcomes of children diagnosed antenatally with sex chromosome aneuploidies
dc.typecarta al editor
dc.volumen60
sipa.codpersvinculados209562
sipa.trazabilidadSCOPUS;2024-06-02
Files
Collections
Artículos de revistas