Ontology type: schema:ScholarlyArticle
2018-12-14
AUTHORSRaul E. Piña-Aguilar, Sheila A. Simpson, Abdulrahman Alshatti, Angus Clarke, David Craufurd, Huw Dorkins, Karen Doye, Nayana Lahiri, Alison Lashwood, Colleen Lynch, Claire Miller, Sally Morton, Mary O’Driscoll, Oliver W. Quarrell, Daniela Rae, Mark Strong, Charlotte Tomlinson, Peter Turnpenny, Zosia Miedzybrodzka
ABSTRACTPURPOSE: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families' decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced. METHODS: Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988-2015, and four UK PGD centers 2002-2015. RESULTS: From 1988 to 2015, 479 prenatal diagnoses were performed in the UK for HD. An exclusion approach was used in 150 (31%). The annual rate of HD prenatal diagnosis has remained around 18 (3.5/million) over 27 years, despite a steady increase in the use of PGD for HD since 2002. CONCLUSION: Although increasing number of couples are choosing either direct or exclusion PGD to prevent HD in their offspring, both direct and exclusion prenatal diagnosis remain important options in a health system where both PGD and prenatal diagnosis are state funded. At-risk couples should be informed of all options available to them, preferably prepregnancy. More... »
PAGES1-5
http://scigraph.springernature.com/pub.10.1038/s41436-018-0367-z
DOIhttp://dx.doi.org/10.1038/s41436-018-0367-z
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1110559583
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/30546084
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1117",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Public Health and Health Services",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Aberdeen Royal Infirmary",
"id": "https://www.grid.ac/institutes/grid.417581.e",
"name": [
"School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK",
"North of Scotland Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK"
],
"type": "Organization"
},
"familyName": "Pi\u00f1a-Aguilar",
"givenName": "Raul E.",
"id": "sg:person.0761255466.87",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0761255466.87"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Aberdeen Royal Infirmary",
"id": "https://www.grid.ac/institutes/grid.417581.e",
"name": [
"North of Scotland Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK"
],
"type": "Organization"
},
"familyName": "Simpson",
"givenName": "Sheila A.",
"id": "sg:person.01261556164.56",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261556164.56"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Aberdeen",
"id": "https://www.grid.ac/institutes/grid.7107.1",
"name": [
"School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK",
"Kuwait Medical Genetics Center, Kuwait, Kuwait"
],
"type": "Organization"
},
"familyName": "Alshatti",
"givenName": "Abdulrahman",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Cardiff University",
"id": "https://www.grid.ac/institutes/grid.5600.3",
"name": [
"Institute of Cancer and Genetics, University of Cardiff, Cardiff, UK"
],
"type": "Organization"
},
"familyName": "Clarke",
"givenName": "Angus",
"id": "sg:person.0577565115.77",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577565115.77"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "St Mary's Hospital",
"id": "https://www.grid.ac/institutes/grid.416523.7",
"name": [
"Manchester Centre for Genomic Medicine, Division of Evolution and Genomics Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK",
"St. Mary\u2019s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK"
],
"type": "Organization"
},
"familyName": "Craufurd",
"givenName": "David",
"id": "sg:person.01350013663.63",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350013663.63"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Leicester Royal Infirmary",
"id": "https://www.grid.ac/institutes/grid.419248.2",
"name": [
"Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, UK"
],
"type": "Organization"
},
"familyName": "Dorkins",
"givenName": "Huw",
"id": "sg:person.0703413202.58",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0703413202.58"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"The Centre for Reproductive & Genetic Health, London, UK"
],
"type": "Organization"
},
"familyName": "Doye",
"givenName": "Karen",
"type": "Person"
},
{
"affiliation": {
"alternateName": "St George\u2019s University Hospitals NHS Foundation Trust",
"id": "https://www.grid.ac/institutes/grid.451349.e",
"name": [
"Clinical Genetics department, St George\u2019s University of London, London, UK",
"St George\u2019s University Hospitals NHS Foundation Trust, London, UK"
],
"type": "Organization"
},
"familyName": "Lahiri",
"givenName": "Nayana",
"id": "sg:person.01340076245.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01340076245.09"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Guy's Hospital",
"id": "https://www.grid.ac/institutes/grid.239826.4",
"name": [
"Clinical Genetics & Centre for PGD, Guy\u2019s Hospital, London, UK"
],
"type": "Organization"
},
"familyName": "Lashwood",
"givenName": "Alison",
"id": "sg:person.0601432010.18",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0601432010.18"
],
"type": "Person"
},
{
"affiliation": {
"name": [
"CARE Fertility Centre, Nottingham, UK"
],
"type": "Organization"
},
"familyName": "Lynch",
"givenName": "Colleen",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Liverpool Womens NHS Foundation Trust",
"id": "https://www.grid.ac/institutes/grid.419317.9",
"name": [
"Cheshire and Merseyside Clinical Genetics Service, Liverpool Women\u2019s NHS Foundation Trust, Liverpool, UK"
],
"type": "Organization"
},
"familyName": "Miller",
"givenName": "Claire",
"id": "sg:person.07731172310.43",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07731172310.43"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Western General Hospital",
"id": "https://www.grid.ac/institutes/grid.417068.c",
"name": [
"South East of Scotland Genetics Services, Molecular Medicine Centre, Western General Hospital, Edinburgh, UK"
],
"type": "Organization"
},
"familyName": "Morton",
"givenName": "Sally",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust",
"id": "https://www.grid.ac/institutes/grid.498025.2",
"name": [
"West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women\u2019s NHS Foundation Trust, Birmingham, UK"
],
"type": "Organization"
},
"familyName": "O\u2019Driscoll",
"givenName": "Mary",
"id": "sg:person.013626004277.76",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013626004277.76"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Sheffield Children's Hospital",
"id": "https://www.grid.ac/institutes/grid.413991.7",
"name": [
"Department of Clinical Genetics, Sheffield Children\u2019s Hospital, Sheffield, UK"
],
"type": "Organization"
},
"familyName": "Quarrell",
"givenName": "Oliver W.",
"id": "sg:person.01215000460.17",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01215000460.17"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Aberdeen Royal Infirmary",
"id": "https://www.grid.ac/institutes/grid.417581.e",
"name": [
"School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK",
"North of Scotland Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK"
],
"type": "Organization"
},
"familyName": "Rae",
"givenName": "Daniela",
"id": "sg:person.0655673153.50",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0655673153.50"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Sheffield",
"id": "https://www.grid.ac/institutes/grid.11835.3e",
"name": [
"School of Health and Related Research (ScHARR), University of Sheffield, Sheffield, UK"
],
"type": "Organization"
},
"familyName": "Strong",
"givenName": "Mark",
"id": "sg:person.0632440236.64",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0632440236.64"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Guy's Hospital",
"id": "https://www.grid.ac/institutes/grid.239826.4",
"name": [
"Clinical Genetics & Centre for PGD, Guy\u2019s Hospital, London, UK"
],
"type": "Organization"
},
"familyName": "Tomlinson",
"givenName": "Charlotte",
"type": "Person"
},
{
"affiliation": {
"name": [
"Peninsula Clinical Genetics, Royal Devon & Exeter Healthcare NHS, Exeter, UK"
],
"type": "Organization"
},
"familyName": "Turnpenny",
"givenName": "Peter",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Aberdeen Royal Infirmary",
"id": "https://www.grid.ac/institutes/grid.417581.e",
"name": [
"School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK",
"North of Scotland Regional Genetics Service, Aberdeen Royal Infirmary, Aberdeen, UK"
],
"type": "Organization"
},
"familyName": "Miedzybrodzka",
"givenName": "Zosia",
"id": "sg:person.015543264761.71",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015543264761.71"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/sj.ejhg.5200871",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002039927",
"https://doi.org/10.1038/sj.ejhg.5200871"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/sj.ejhg.5200871",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1002039927",
"https://doi.org/10.1038/sj.ejhg.5200871"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/humrep/dev122",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1006342461"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/cge.12090",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014580682"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0092-8674(93)90585-e",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016075278"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1034/j.1399-0004.2003.00093.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1017767472"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/humupd/dms058",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021653860"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1399-0004.2006.00702.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1021955693"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jnnp-2012-304636",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032151812"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/pd.4593",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1040848603"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1399-0004.2006.00701.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044045678"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/bmj.g7611",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047198668"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/cge.12089",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048913452"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nrneurol.2014.24",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049649920",
"https://doi.org/10.1038/nrneurol.2014.24"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1111/j.1399-0004.1996.tb04327.x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053561749"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmg.38.5.333",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1062818129"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmg.38.5.333",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1062818129"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/oxfordjournals.humrep.a138002",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1082674898"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1080/14647273.2017.1336259",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1085986235"
],
"type": "CreativeWork"
}
],
"datePublished": "2018-12-14",
"datePublishedReg": "2018-12-14",
"description": "PURPOSE: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families' decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced.\nMETHODS: Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988-2015, and four UK PGD centers 2002-2015.\nRESULTS: From 1988 to 2015, 479 prenatal diagnoses were performed in the UK for HD. An exclusion approach was used in 150 (31%). The annual rate of HD prenatal diagnosis has remained around 18 (3.5/million) over 27 years, despite a steady increase in the use of PGD for HD since 2002.\nCONCLUSION: Although increasing number of couples are choosing either direct or exclusion PGD to prevent HD in their offspring, both direct and exclusion prenatal diagnosis remain important options in a health system where both PGD and prenatal diagnosis are state funded. At-risk couples should be informed of all options available to them, preferably prepregnancy.",
"genre": "research_article",
"id": "sg:pub.10.1038/s41436-018-0367-z",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1119411",
"issn": [
"1098-3600",
"1530-0366"
],
"name": "Genetics in Medicine",
"type": "Periodical"
}
],
"name": "27 years of prenatal diagnosis for Huntington disease in the United Kingdom",
"pagination": "1-5",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"db7580ef5912d1f2cc9229d50e1412fa191c0416a6eb4e2b2da932f5a1383d15"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"30546084"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"9815831"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s41436-018-0367-z"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1110559583"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s41436-018-0367-z",
"https://app.dimensions.ai/details/publication/pub.1110559583"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T08:29",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000309_0000000309/records_106252_00000000.jsonl",
"type": "ScholarlyArticle",
"url": "https://www.nature.com/articles/s41436-018-0367-z"
}
]
Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0367-z'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0367-z'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0367-z'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0367-z'
This table displays all metadata directly associated to this object as RDF triples.
279 TRIPLES
21 PREDICATES
43 URIs
18 LITERALS
7 BLANK NODES