Ontology type: schema:ScholarlyArticle
2019-04-03
AUTHORSBrian G. Skotko, Megan A. Allyse, Komal Bajaj, Robert G. Best, Susan Klugman, Mark Leach, Stephanie Meredith, Marsha Michie, Katie Stoll, Anthony R. Gregg
ABSTRACTPURPOSE: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations. METHODS: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated. RESULTS: Nine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG. CONCLUSIONS: Laboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance. More... »
PAGES1-8
http://scigraph.springernature.com/pub.10.1038/s41436-019-0485-2
DOIhttp://dx.doi.org/10.1038/s41436-019-0485-2
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1113176760
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/30940924
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/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Harvard University",
"id": "https://www.grid.ac/institutes/grid.38142.3c",
"name": [
"Division of Medical Genetics, Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA",
"Department of Pediatrics, Harvard Medical School, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Skotko",
"givenName": "Brian G.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Mayo Clinic",
"id": "https://www.grid.ac/institutes/grid.66875.3a",
"name": [
"Program in Biomedical Ethics Research and Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, MN, USA"
],
"type": "Organization"
},
"familyName": "Allyse",
"givenName": "Megan A.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Montefiore Medical Center",
"id": "https://www.grid.ac/institutes/grid.240283.f",
"name": [
"Division of Reproductive and Medical Genetics, Department of Obstetrics & Gynecology and Women\u2019s Health, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA"
],
"type": "Organization"
},
"familyName": "Bajaj",
"givenName": "Komal",
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of South Carolina",
"id": "https://www.grid.ac/institutes/grid.254567.7",
"name": [
"University of South Carolina School of Medicine Greenville/Greenville Health System, Greenville, SC, USA"
],
"type": "Organization"
},
"familyName": "Best",
"givenName": "Robert G.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Montefiore Medical Center",
"id": "https://www.grid.ac/institutes/grid.240283.f",
"name": [
"Division of Reproductive and Medical Genetics, Department of Obstetrics & Gynecology and Women\u2019s Health, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA"
],
"type": "Organization"
},
"familyName": "Klugman",
"givenName": "Susan",
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Kentucky",
"id": "https://www.grid.ac/institutes/grid.266539.d",
"name": [
"National Center for Prenatal & Postnatal Resources, University of Kentucky, Lexington, KY, USA"
],
"type": "Organization"
},
"familyName": "Leach",
"givenName": "Mark",
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Kentucky",
"id": "https://www.grid.ac/institutes/grid.266539.d",
"name": [
"National Center for Prenatal & Postnatal Resources, University of Kentucky, Lexington, KY, USA"
],
"type": "Organization"
},
"familyName": "Meredith",
"givenName": "Stephanie",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Case Western Reserve University",
"id": "https://www.grid.ac/institutes/grid.67105.35",
"name": [
"Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, OH, USA"
],
"type": "Organization"
},
"familyName": "Michie",
"givenName": "Marsha",
"type": "Person"
},
{
"affiliation": {
"name": [
"Genetic Support Foundation, Olympia, WA, USA"
],
"type": "Organization"
},
"familyName": "Stoll",
"givenName": "Katie",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Baylor University Medical Center",
"id": "https://www.grid.ac/institutes/grid.411588.1",
"name": [
"Departments of Obstetrics and Gynecology and Maternal Fetal Medicine, Baylor University Medical Center, Dallas, TX, USA"
],
"type": "Organization"
},
"familyName": "Gregg",
"givenName": "Anthony R.",
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1002/pd.4608",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1001240378"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.33082",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005017316"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.33082",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1005017316"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1352/1934-9556-51.6.446",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007016835"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s10897-012-9564-0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1015668402",
"https://doi.org/10.1007/s10897-012-9564-0"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/aog.0000000000001406",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019891727"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/aog.0000000000001406",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019891727"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/aog.0000000000000363",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020845298"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/aog.0000000000000363",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020845298"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/aog.0000000000000363",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020845298"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1097/aog.0000000000000363",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020845298"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/uog.14792",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020851712"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/uog.14792",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020851712"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/ajmg.a.35340",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030735448"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/gim.2016.97",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030828998",
"https://doi.org/10.1038/gim.2016.97"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/uog.14715",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030889406"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1056/nejmoa1407349",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032615700"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1056/nejmoa1311037",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049266560"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1056/nejmoa1311037",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049266560"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1002/pd.5068",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1085455035"
],
"type": "CreativeWork"
}
],
"datePublished": "2019-04-03",
"datePublishedReg": "2019-04-03",
"description": "PURPOSE: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations.\nMETHODS: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated.\nRESULTS: Nine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG.\nCONCLUSIONS: Laboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance.",
"genre": "research_article",
"id": "sg:pub.10.1038/s41436-019-0485-2",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1119411",
"issn": [
"1098-3600",
"1530-0366"
],
"name": "Genetics in Medicine",
"type": "Periodical"
}
],
"name": "Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations",
"pagination": "1-8",
"productId": [
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s41436-019-0485-2"
]
},
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"de082bf3697104e9acb362c362e80af27a11d7aa07f285bf902f54ff2926f022"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1113176760"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"9815831"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"30940924"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s41436-019-0485-2",
"https://app.dimensions.ai/details/publication/pub.1113176760"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-15T09:22",
"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/v90/0000000376_0000000376/records_56182_00000006.jsonl",
"type": "ScholarlyArticle",
"url": "https://www.nature.com/articles/s41436-019-0485-2"
}
]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/s41436-019-0485-2'
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/s41436-019-0485-2'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41436-019-0485-2'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41436-019-0485-2'
This table displays all metadata directly associated to this object as RDF triples.
178 TRIPLES
21 PREDICATES
39 URIs
18 LITERALS
7 BLANK NODES