Contingent screening for Down syndrome completed in the first trimester: a multicenter study

Muñoz-Cortes, M.; Arigita, M.; Falguera-Puig, Gemma; Seres, A.; Guix, Dolors; Baldrich, E.; Acera, Arantxa; Torrent, Anna; Rodriguez-Veret, A.; Lopez-Quesada, E.; García-Moreno, Rafael; Goncé, Anna; Borobio, V.; Borrell, Antoni

doi:10.1002/uog.9075

Cited by 24 publications

(19 citation statements)

References 18 publications

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“…However, various groups propose other DS screening methods to improve the results of the combined test. Although the integrated test (combining the combined test with second trimester biochemical markers) [8,12,29] shows greater sensitivity than the combined test, its implementation is controversial as it does not seem appropriate to keep the results and postpone performing invasive techniques until the second trimester [14] . Another proposal for improvement is the contingent test [17,20,30] , which involves selecting an intermediate risk group with the combined test and offering them a second ultrasound or biochemical DS screening method.…”

Section: Discussionmentioning

confidence: 99%

Stepwise sequential screening for Down’s syndrome (combined test associated with modified genetic sonography) in pregnant women with low risk for chromosomal disorders

Bueno¹,

Borrero

et al. 2012

Journal of Perinatal Medicine

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Section: Discussionmentioning

confidence: 99%

Stepwise sequential screening for Down’s syndrome (combined test associated with modified genetic sonography) in pregnant women with low risk for chromosomal disorders

Bueno¹,

Borrero

et al. 2012

Journal of Perinatal Medicine

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“…Concerning the contingent screening approach, in our series the use of DV ± TF resulted in a significant 42% FPR reduction (from 6.9 to 4.0%) with a marginal DR increase. Similarly, in most of the reported series, greater FPR reductions were achieved in the contingent approach as compared to the expanded combined [5,11,12], although the DR may decrease [12]. The main advantage of the contingent approach is that additionally marker assessment is required only in about 10% of pregnancies, being considered the most cost-effective screening strategy in most of the studies [26].…”

Section: Discussionmentioning

confidence: 98%

“…The main advantage of the contingent approach is that additionally marker assessment is required only in about 10% of pregnancies, being considered the most cost-effective screening strategy in most of the studies [26]. A serious drawback of contingent screening was recently demonstrated by our group, when largely applied in public Catalan health service, because half of the pregnancies with low intermediate risks could not be offered the second stage before 14 weeks due to time constraints [11]. …”

Section: Discussionmentioning

confidence: 99%

“…Adding first trimester ultrasound markers other than NT, such as the nasal bone (NB), ductus venosus (DV) and tricuspid flow (TF), has been demonstrated to improve the screening performance of the combined test [4,5,6,7,8,9,10]. They can be concurrently assessed in all pregnancies (expanded combined test), or sequentially in selected pregnancies, with either lower (stepwise sequential screening) or intermediate risk (contingent screening) [11,12,13]. Typically these additional markers may decrease the false positive rate resulting from the combined test [14,15].…”

Section: Introductionmentioning

confidence: 99%

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Likelihood Ratios to Apply for Nasal Bone, Ductus Venosus and Tricuspid Flow at the 11-13 Weeks' Scan in Down Syndrome Screening

Illa¹,

Mula²,

Arigita³

et al. 2013

Fetal Diagn Ther

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Objective: To assess the feasibility of nasal bone (NB), ductus venosus (DV) and tricuspid flow (TF) at the 11-13 weeks' scan, calculate likelihood ratios for each of the markers and evaluate their efficacy in expanded and contingent screening strategies for Down syndrome. Material and Methods: NB, DV and TF were assessed in 11,261 singleton fetuses undergoing first trimester combined screening. For each marker, Down syndrome detection rate (DR), false positive rate (FPR), positive, negative and isolated likelihood ratios (PLR, NLR and iLR) were calculated. Likelihood ratios were multiplied to the combined test risk either to the entire population or to the intermediate risk group (expanded and sequential strategies, respectively). Results: Down syndrome was diagnosed in 101 pregnancies. Feasibility for marker assessment ranged from 71 to 97%, DRs for isolated markers from 20 to 54% and FPRs from 1.3 to 5.3%. PLR ranged from 10 to 15, NLR from 0.5 to 0.8 and iLR from 3.9 to 5.6. When ultrasound markers were added to both strategies, a significant FPR reduction was observed. Conclusion: The application of NB, DV and TF likelihood ratios to the combined test risk, either in an expanded or contingent strategy, result in a FPR reduction.

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“…Nicolaides y cols (1) en 2005, propusieron la onda a de flujo del ductus venoso, el hueso nasal y la regurgitación tricuspídea, los cuales hoy en día están establecidos como marcadores de segunda línea relacionados con cromosomopatías, estableciéndose a partir de ahí el llamado cribado contingente (1,3,4). Con este tipo de cribado a las pacientes con riesgo intermedio en el test combinado, se les completa el estudio con estos marcadores secundarios, recalculándose el riesgo de trisomía 21.…”

Section: Introductionunclassified

Rol de los marcadores ecográficos secundarios de primer trimestre para la detección de trisomía 21

et al. 2016

Rev. chil. obstet. ginecol.

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RESUMENObjetivo: Analizar los resultados de los marcadores ecográficos secundarios (hueso nasal, onda a del ductus venoso y regurgitación tricuspídea) y valorar su efectividad para la detección de trisomía 21 y su utilidad para la reducción del número de pruebas invasivas. Métodos: Tras la realización del test combinado de primer trimestre a toda paciente con un riesgo entre 1/101-1/1000 se realizó la valoración de los marcadores secundarios. Resultados: Desde Enero de 2014 a Mayo de 2015 se realizaron 2.660 test combinados del primer trimestre valorándose la edad materna, la traslucencia nucal y la PAPP-A y ßhCG, teniendo una sensibilidad del 90% y una tasa de falsos positivos del 3,2%. Hubo 10 fetos con trisomía 21. La sensibilidad de hueso nasal, ductus venoso y regurgitación tricuspídea fue del 22,2%, 50% y 50% y la especificidad del 99,8%, 96,9% y 98,8% respectivamente. La sensibilidad global del test contingente fue del 90%, con una reducción de la tasa de falsos positivos al 1,6%, lo que se reduciría de 171 a 148 el número de amniocentesis. Conclusión: El test contingente es una buena herramienta para reducir la tasa de falsos positivos respecto al test combinado sin disminuir la tasa de detección y con ello reducir la tasa de pruebas invasivas. PALABRAS CLAVE: Trisomia 21, test contingente, marcadores ecográficos secundarios, hueso nasal, ductus venoso, regurgitación tricuspídea SUMMARY Aims:To analyze the results of the secondary sonographic markers (nasal bone, wave ductus venosus and tricuspid regurgitation) and evaluate its effectiveness for the detection of trisomy 21 and thus reduce the number of invasive tests. Methods: After completing the first trimester combined test, all patients with a risk between 1/101-1/1000 were evaluated the secondary sonographic markers. Results: From January 2014 to May 2015 2660 combined test being assessed maternal age, nuchal translucency and PAPP-A and ßhCG were performed, with a sensitivity of 90% and a false positive rate of 3.2%. 10 fetuses with trisomy 21 were observed. The sensitivity of nasal bone, ductus venosus and tricuspid regurgitation was 22.2%, 50% and 50% and specificity was 99.8%, 96.9% and 98.8% respectively. The overall sensitivity of contingent test was 90%, with a reduction in false positive rate to 1.6%, which would decrease the number of amniocentesis from 171 to 148. Conclusion: The contingent test is a good tool to reduce the rate of false positives with respect to the combined test without decreasing the detection rate and thereby reduce the rate of invasive testing.

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Contingent screening for Down syndrome completed in the first trimester: a multicenter study

Abstract: ABSTRACT

Cited by 24 publications

References 18 publications

Stepwise sequential screening for Down’s syndrome (combined test associated with modified genetic sonography) in pregnant women with low risk for chromosomal disorders

Stepwise sequential screening for Down’s syndrome (combined test associated with modified genetic sonography) in pregnant women with low risk for chromosomal disorders

Likelihood Ratios to Apply for Nasal Bone, Ductus Venosus and Tricuspid Flow at the 11-13 Weeks' Scan in Down Syndrome Screening

Rol de los marcadores ecográficos secundarios de primer trimestre para la detección de trisomía 21

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