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Role of Second-Trimester Genetic Sonography After Down Syndrome Screening

AAGAARD-TILLERY, Kjersti M ; MALONE, Fergal D ; GROSS, Susan ; DUGOFF, Lorraine ; CRAIGO, Sabrina D ; TIMOR-TRITSCH, Ilan E ; CARR, Stephen R ; WOLFE, Honor M ; BIANCHI, Diana W ; D'ALTON, Mary E ; NYBERG, David A ; FLINT PORTER, T ; CUCKLE, Howard S ; FUCHS, Karin ; SULLIVAN, Lisa ; COMSTOCK, Christine H ; SAADE, George R ; EDDLEMAN, Keith

Obstetrics and gynecology (New York. 1953), 2009-12, Vol.114 (6), p.1189-1196 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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Título:
Role of Second-Trimester Genetic Sonography After Down Syndrome Screening
Autor: AAGAARD-TILLERY, Kjersti M ; MALONE, Fergal D ; GROSS, Susan ; DUGOFF, Lorraine ; CRAIGO, Sabrina D ; TIMOR-TRITSCH, Ilan E ; CARR, Stephen R ; WOLFE, Honor M ; BIANCHI, Diana W ; D'ALTON, Mary E ; NYBERG, David A ; FLINT PORTER, T ; CUCKLE, Howard S ; FUCHS, Karin ; SULLIVAN, Lisa ; COMSTOCK, Christine H ; SAADE, George R ; EDDLEMAN, Keith
Assuntos: Adult ; Biological and medical sciences ; Chromosome aberrations ; Down Syndrome - diagnosis ; Down Syndrome - diagnostic imaging ; Female ; Genetic Testing ; Gynecology. Andrology. Obstetrics ; Humans ; Medical genetics ; Medical sciences ; Pregnancy ; Prospective Studies ; Risk Assessment ; Sensitivity and Specificity ; Ultrasonography, Prenatal ; Young Adult
É parte de: Obstetrics and gynecology (New York. 1953), 2009-12, Vol.114 (6), p.1189-1196
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
Descrição: 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.
Editor: Hagerstown, MD: Lippincott Williams & Wilkins
Idioma: Inglês

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Role of Second-Trimester Genetic Sonography After Down Syndrome Screening

Hagerstown, MD: Lippincott Williams & Wilkins

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