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Sökning: onr:"swepub:oai:gup.ub.gu.se/313329" > Cell-free DNA scree...

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FältnamnIndikatorerMetadata
00005755naa a2200937 4500
001oai:gup.ub.gu.se/313329
003SwePub
008240910s2022 | |||||||||||000 ||eng|
0247 a https://gup.ub.gu.se/publication/3133292 URI
0247 a https://doi.org/10.1016/j.ajog.2022.01.0192 DOI
040 a (SwePub)gu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Dar, Pe'er4 aut
2451 0a Cell-free DNA screening for trisomies 21, 18 and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation
264 1b Elsevier BV,c 2022
520 a Cell-free DNA (cfDNA) non-invasive prenatal screening for trisomy (T) 21, 18, and 13 has been rapidly adopted into clinical practice. However, prior studies are limited by lack of follow up genetic testing to confirm outcomes and accurately assess test performance, particularly in women at low-risk for aneuploidy.To compare the performance of cfDNA screening for T21, T18 and T13 between women at low and high-risk for aneuploidy in a large, prospective cohort with genetic confirmation of results.A multicenter prospective observational study at 21 centers in 6 countries. Women who had SNP-based cfDNA screening for T21, T18 and T13 were enrolled. Genetic confirmation was obtained from prenatal or newborn DNA samples. Test performance and test failure (no-call) rates were assessed for the cohort and women with low and high prior risk for aneuploidy were compared. An updated cfDNA algorithm, blinded to pregnancy outcome, was also assessed.20,194 were enrolled at median gestational age of 12.6 weeks (IQR:11.6, 13.9). Genetic outcomes were confirmed in 17,851 (88.4%): 13,043 (73.1%) low-risk and 4,808 (26.9%) high-risk for aneuploidy. Overall, 133 trisomies were diagnosed (100 T21; 18 T18; 15 T13). cfDNA screen positive rate was lower in low- vs. high-risk (0.27% vs. 2.2%, p<0.0001). Sensitivity and specificity were similar between groups. The positive predictive value (PPV) for the low and high-risk groups was 85.7% vs. 97.5%, p=0.058 for T21; 50.0% vs. 81.3%, p=0.283 for T18; and 62.5% vs. 83.3, p=0.58 for T13, respectively. Overall, 602 (3.4%) patients had no-call result after the first draw and 287 (1.61%) after including cases with a second draw. Trisomy rate was higher in the 287 with no-call results than patients with a result on a first draw (2.8% vs. 0.7%, p=0.001). The updated algorithm showed similar sensitivity and specificity to the study algorhitm with a lower no-call rate.In women at low-risk for aneuploidy, SNP-based cfDNA has high sensitivity and specificity, PPV of 85.7% for T21 and 74.3% for the three common trisomies. Patients who receive a no-call result are at increased risk of aneuploidy and require additional investigation.
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
653 a Aneuploidy
653 a Cell-Free Nucleic Acids
653 a Chromosome Disorders
653 a diagnosis
653 a genetics
653 a Down Syndrome
653 a diagnosis
653 a genetics
653 a Female
653 a Humans
653 a Infant
653 a Newborn
653 a Nucleotides
653 a Pregnancy
653 a Pregnancy Outcome
653 a Prenatal Diagnosis
653 a methods
653 a Prospective Studies
653 a Trisomy
653 a diagnosis
653 a genetics
653 a Trisomy 13 Syndrome
653 a diagnosis
653 a genetics
653 a Trisomy 18 Syndrome
653 a diagnosis
653 a genetics
7001 a 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
7001 a MacPherson, Cora4 aut
7001 a Egbert, Melissa4 aut
7001 a Malone, Fergal4 aut
7001 a Wapner, Ronald J4 aut
7001 a Roman, Ashley S4 aut
7001 a Khalil, Asma4 aut
7001 a Faro, Revital4 aut
7001 a Madankumar, Rajeevi4 aut
7001 a Edwards, Lance4 aut
7001 a Haeri, Sina4 aut
7001 a Silver, Robert4 aut
7001 a Vohra, Nidhi4 aut
7001 a Hyett, Jon4 aut
7001 a Clunie, Garfield4 aut
7001 a Demko, Zachary4 aut
7001 a Martin, Kimberly4 aut
7001 a Rabinowitz, Matthew4 aut
7001 a Flood, Karen4 aut
7001 a Carlsson, Ylva,d 1975u Gothenburg University,Göteborgs universitet,Extern,Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi,External,Institute of Clinical Sciences, Department of Obstetrics and Gynecology4 aut0 (Swepub:gu)xcarly
7001 a Doulaveris, Georgios4 aut
7001 a Malone, Ciara4 aut
7001 a Hallingstrom, Maria4 aut
7001 a Klugman, Susan4 aut
7001 a Clifton, Rebecca4 aut
7001 a Kao, Charlly4 aut
7001 a Hakonarson, Hakon4 aut
7001 a Norton, Mary E4 aut
7102 a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi4 org
7730 t American journal of obstetrics and gynecologyd : Elsevier BVg 227:2q 227:2x 1097-6868x 0002-9378
8564 u https://doi.org/10.1016/j.ajog.2022.01.019
8564 8u https://gup.ub.gu.se/publication/313329
8564 8u https://doi.org/10.1016/j.ajog.2022.01.019

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