First‐trimester Down syndrome screening performance in the Dutch population; how to achieve further improvement?

Wortelboer, E. J.; Koster, Maria P. H.; Stoutenbeek, P.; Elvers, L.H.; Loeber, J.G.; Visser, Gerard H.A.; Schielen, Peter C. J. I.

doi:10.1002/pd.2247

Cited by 24 publications

(31 citation statements)

References 19 publications

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“…The DR for the contingent screening during the study period was 88.3% for Down syndrome-affected pregnancies with FPR of 3.4%. The DR and FPR are comparable to some reported results from screening programmes (Crossley et al 2002;Rozenberg et al 2007;Okun et al 2008;Wortelboer et al 2009), but performance was nevertheless lower than the published results of large prospective studies (Spencer and Nicolaides 2003;Nicolaides et al 2005). The lower performance rate may by due to a small study group where every case played a major role on DR calculation, and also median maternal age in our study group was 3 years younger than in the large studies.…”

Section: Discussioncontrasting

confidence: 30%

Prospective experience with contingent screening strategy for Down syndrome in Estonia

et al. 2010

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The purpose of this study was to establish the first-trimester screening for Down syndrome (DS) in Estonia and to evaluate the potential of a contingent screening in the population of pregnant women. A prospective cohort study included non-selected pregnancies during the programme of first-trimester screening for DS in a 4-year period at a single centre. The following screening tests were evaluated: measurement of nuchal translucency (NT) and serum screening [pregnancy-associated plasma protein A and free beta subunit of human chorionic gonadotropin (fβ-HCG)]; results were given as combined screening. After first-trimester screening, contingent screening protocol was used, and women were divided into three groups: high risk, low risk and an intermediate risk group. In the last group, a second-trimester triple test (AFP; total HCG and uE3) was also performed. The study group consisted of 3,194 non-selected pregnancies. In 1,387 (43.4%) women, first-trimester serum screening showed low risk (risk ≤ 1:5,000), and no future testing was performed, in 30 (0.9%) women screening test showed high risk (risk≥1:50) and a diagnostic test was offered, and in 1,777 (55.7%) women repeated risk calculation in the second trimester was done. During the study period, there were 17 cases of trisomy 21, of which 15 (88.3%) were detected with the described screening programme. In conclusion, two-step contingent sequential screening is a better choice for Down syndrome screening in Estonia instead of previously used second-trimester screening, and it offers the advantage of earlier diagnosis.

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Section: Discussioncontrasting

confidence: 30%

Prospective experience with contingent screening strategy for Down syndrome in Estonia

et al. 2010

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“…Since then, all pregnant women are offered such prenatal screening for DS, but the uptake of the test is only 23% (Schielen et al, 2008), which is rather low as compared to other countries. The detection rate (DR) of DS screening in the Netherlands is currently 76% (Wortelboer et al, 2009a).…”

Section: Prenatal Screening For Down Syndromementioning

confidence: 99%

Innovations in Down Syndrome Screening

Koster¹,

Vries²,

Visser³

et al. 2011

Prenatal Diagnosis and Screening for Down Syndrome

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“…30% in the Netherlands to 1 90% in Denmark. The false-positive rate results in many invasive tests in healthy pregnancies, with one procedure-related miscarriage of a healthy fetus for every 2-3 T21 detected [21][22][23][24] .…”

Section: Summary Of Evidencementioning

confidence: 99%

Diagnostic Accuracy of Noninvasive Detection of Fetal Trisomy 21 in Maternal Blood: A Systematic Review

Verweij¹,

Oever

Boer³

et al. 2011

Fetal Diagn Ther

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Background: Both pregnant women and providers of obstetric care are aware of the rapid advances in noninvasive prenatal diagnosis (NIPD) of fetal trisomies, and appear to look forward to its clinical introduction. Objectives: To review and critically assess the published literature on diagnostic accuracy of NIPD using cell-free fetal DNA or RNA in maternal blood to detect fetal trisomy 21. Method: An electronic search was performed in MEDLINE, EMBASE and the Cochrane library (1997 to April 2011). Of a total of 201 citations, 9 studies were eligible for full-text analysis by 2 independent reviewers, using the QUADAS tool. Results: Two of the 9 analyzed studies complied with the criteria of the QUADAS tool. Combining the selected 2 studies, with a total of 681 pregnancies included, overall sensitivity was 125/125 (100%, 95% CI 97.5–100%) and specificity 552/556 (99.3%, 95% CI 98.7–99.3%). Conclusions: NIPD of fetal trisomy 21, using fetal nucleic acids in maternal plasma, appears to have a high diagnostic accuracy. Large-scale prospective studies are awaited before implementation in clinical practice.

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First‐trimester Down syndrome screening performance in the Dutch population; how to achieve further improvement?

Cited by 24 publications

References 19 publications

Prospective experience with contingent screening strategy for Down syndrome in Estonia

Prospective experience with contingent screening strategy for Down syndrome in Estonia

Innovations in Down Syndrome Screening

Diagnostic Accuracy of Noninvasive Detection of Fetal Trisomy 21 in Maternal Blood: A Systematic Review

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