Role of second-trimester genetic sonography after Down syndrome screening.

Hdl Handle:
http://hdl.handle.net/10147/189837
Title:
Role of second-trimester genetic sonography after Down syndrome screening.
Authors:
Aagaard-Tillery, Kjersti M; Malone, Fergal D; Nyberg, David A; Porter, T Flint; Cuckle, Howard S; Fuchs, Karin; Sullivan, Lisa; Comstock, Christine H; Saade, George R; Eddleman, Keith; Gross, Susan; Dugoff, Lorraine; Craigo, Sabrina D; Timor-Tritsch, Ilan E; Carr, Stephen R; Wolfe, Honor M; Bianchi, Diana W; D'Alton, Mary E
Affiliation:
University of Utah, Salt Lake City, Utah, USA; Rotunda Hospital Dublin
Citation:
Role of second-trimester genetic sonography after Down syndrome screening. 2009, 114 (6):1189-96 Obstet Gynecol
Journal:
Obstetrics and gynecology
Issue Date:
Dec-2009
URI:
http://hdl.handle.net/10147/189837
DOI:
10.1097/AOG.0b013e3181c15064
PubMed ID:
19935018
Abstract:
To estimate the effectiveness of second-trimester genetic sonography in modifying Down syndrome screening test results.; The First and Second Trimester Evaluation of Risk (FASTER) aneuploidy screening trial participants were studied from 13 centers where a 15- to 23-week genetic sonogram was performed in the same center. Midtrimester Down syndrome risks were estimated for five screening test policies: first-trimester combined, second-trimester quadruple, and testing sequentially by integrated, stepwise, or contingent protocols. The maternal age-specific risk and the screening test risk were modified using likelihood ratios derived from the ultrasound findings. Separate likelihood ratios were obtained for the presence or absence of at least one major fetal structural malformation and for each "soft" sonographic marker statistically significant at the P<.005 level. Detection and false-positive rate were calculated for the genetic sonogram alone and for each test before and after risk modification.; A total of 7,842 pregnancies were studied, including 59 with Down syndrome. Major malformations and 8 of the 18 soft markers evaluated were highly significant. The detection rate for a 5% false-positive rate for the genetic sonogram alone was 69%; the detection rate increased from 81% to 90% with the combined test, from 81% to 90% with the quadruple test, from 93% to 98% with the integrated test, from 97% to 98% with the stepwise test, and from 95% to 97% with the contingent test. The stepwise and contingent use of the genetic sonogram after first-trimester screening both yielded a 90% detection rate.; Genetic sonography can increase detection rates substantially for combined and quadruple tests and more modestly for sequential protocols. Substituting sonography for quadruple markers in sequential screening was not useful.; II.
Item Type:
Article
Language:
en
MeSH:
Adult; Down Syndrome; Female; Genetic Testing; Humans; Pregnancy; Prospective Studies; Risk Assessment; Sensitivity and Specificity; Ultrasonography, Prenatal; Young Adult
ISSN:
1873-233X

Full metadata record

DC FieldValue Language
dc.contributor.authorAagaard-Tillery, Kjersti Men
dc.contributor.authorMalone, Fergal Den
dc.contributor.authorNyberg, David Aen
dc.contributor.authorPorter, T Flinten
dc.contributor.authorCuckle, Howard Sen
dc.contributor.authorFuchs, Karinen
dc.contributor.authorSullivan, Lisaen
dc.contributor.authorComstock, Christine Hen
dc.contributor.authorSaade, George Ren
dc.contributor.authorEddleman, Keithen
dc.contributor.authorGross, Susanen
dc.contributor.authorDugoff, Lorraineen
dc.contributor.authorCraigo, Sabrina Den
dc.contributor.authorTimor-Tritsch, Ilan Een
dc.contributor.authorCarr, Stephen Ren
dc.contributor.authorWolfe, Honor Men
dc.contributor.authorBianchi, Diana Wen
dc.contributor.authorD'Alton, Mary Een
dc.date.accessioned2011-11-17T11:54:09Z-
dc.date.available2011-11-17T11:54:09Z-
dc.date.issued2009-12-
dc.identifier.citationRole of second-trimester genetic sonography after Down syndrome screening. 2009, 114 (6):1189-96 Obstet Gynecolen
dc.identifier.issn1873-233X-
dc.identifier.pmid19935018-
dc.identifier.doi10.1097/AOG.0b013e3181c15064-
dc.identifier.urihttp://hdl.handle.net/10147/189837-
dc.description.abstractTo estimate the effectiveness of second-trimester genetic sonography in modifying Down syndrome screening test results.-
dc.description.abstractThe First and Second Trimester Evaluation of Risk (FASTER) aneuploidy screening trial participants were studied from 13 centers where a 15- to 23-week genetic sonogram was performed in the same center. Midtrimester Down syndrome risks were estimated for five screening test policies: first-trimester combined, second-trimester quadruple, and testing sequentially by integrated, stepwise, or contingent protocols. The maternal age-specific risk and the screening test risk were modified using likelihood ratios derived from the ultrasound findings. Separate likelihood ratios were obtained for the presence or absence of at least one major fetal structural malformation and for each "soft" sonographic marker statistically significant at the P<.005 level. Detection and false-positive rate were calculated for the genetic sonogram alone and for each test before and after risk modification.-
dc.description.abstractA total of 7,842 pregnancies were studied, including 59 with Down syndrome. Major malformations and 8 of the 18 soft markers evaluated were highly significant. The detection rate for a 5% false-positive rate for the genetic sonogram alone was 69%; the detection rate increased from 81% to 90% with the combined test, from 81% to 90% with the quadruple test, from 93% to 98% with the integrated test, from 97% to 98% with the stepwise test, and from 95% to 97% with the contingent test. The stepwise and contingent use of the genetic sonogram after first-trimester screening both yielded a 90% detection rate.-
dc.description.abstractGenetic sonography can increase detection rates substantially for combined and quadruple tests and more modestly for sequential protocols. Substituting sonography for quadruple markers in sequential screening was not useful.-
dc.description.abstractII.-
dc.language.isoenen
dc.subject.meshAdult-
dc.subject.meshDown Syndrome-
dc.subject.meshFemale-
dc.subject.meshGenetic Testing-
dc.subject.meshHumans-
dc.subject.meshPregnancy-
dc.subject.meshProspective Studies-
dc.subject.meshRisk Assessment-
dc.subject.meshSensitivity and Specificity-
dc.subject.meshUltrasonography, Prenatal-
dc.subject.meshYoung Adult-
dc.titleRole of second-trimester genetic sonography after Down syndrome screening.en
dc.typeArticleen
dc.contributor.departmentUniversity of Utah, Salt Lake City, Utah, USA; Rotunda Hospital Dublinen
dc.identifier.journalObstetrics and gynecologyen
dc.description.provinceLeinster-

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