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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004238naa a2200721 4500
001oai:gup.ub.gu.se/283089
003SwePub
008240528s2019 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:141612266
024a https://gup.ub.gu.se/publication/2830892 URI
024a https://doi.org/10.1002/pd.55282 DOI
024a http://kipublications.ki.se/Default.aspx?queryparsed=id:1416122662 URI
040 a (SwePub)gud (SwePub)ki
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Ericsson, Olle4 aut
2451 0a Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.
264 c 2019-08-19
264 1b Wiley,c 2019
520 a To evaluate clinical performance of a new automated cell-free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non-sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.The samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.The new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population-based screening.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reproduktionsmedicin och gynekologi0 (SwePub)302202 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Obstetrics, Gynaecology and Reproductive Medicine0 (SwePub)302202 hsv//eng
700a Ahola, Tarja4 aut
700a Dahl, Fredrik4 aut
700a Karlsson, Filip4 aut
700a Persson, Fredrik4 aut
700a Karlberg, Olof4 aut
700a Roos, Fredrik4 aut
700a Alftrén, Ida4 aut
700a Andersson, Björn4 aut
700a Barkenäs, Emelie4 aut
700a Boghos, Ani4 aut
700a Brandner, Birgit4 aut
700a Dahlberg, Jenny4 aut
700a Forsgren, Per-Ola4 aut
700a Francois, Niels4 aut
700a Gousseva, Anna4 aut
700a Hakamali, Faizan4 aut
700a Janfalk-Carlsson, Åsa4 aut
700a Johansson, Henrik4 aut
700a Lundgren, Johanna4 aut
700a Mohsenchian, Atefeh4 aut
700a Olausson, Linus4 aut
700a Olofsson, Simon4 aut
700a Qureshi, Atif4 aut
700a Skarpås, Björn4 aut
700a Svahn, Peter4 aut
700a Sävneby, Anna4 aut
700a Åström, Eva4 aut
700a Sahlberg, Anna4 aut
700a Fianu-Jonasson, Ainou Karolinska Institutet4 aut
700a Gautier, Jérémie4 aut
700a Costa, Jean-Marc4 aut
700a Jacobsson, Bo,d 1960u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi,Institute of Clinical Sciences, Department of Obstetrics and Gynecology4 aut0 (Swepub:gu)xjacbo
700a Nicolaides, Kypros4 aut
710a Karolinska Institutetb Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi4 org
773t Prenatal diagnosisd : Wileyg 39:11, s. 1011-1015q 39:11<1011-1015x 1097-0223x 0197-3851
856u https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.5528
8564 8u https://gup.ub.gu.se/publication/283089
8564 8u https://doi.org/10.1002/pd.5528
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:141612266

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