Optimal cut‐offs for down syndrome contingent screening in a population of 10 156 pregnant women

Guanciali-Franchi, Paolo; Iezzi, Irene; Soranno, Alessandra; Volo, Chiara Palka Bayard de; Alfonsi, Melissa; Calabrese, Giuseppe; Benn, Peter

doi:10.1002/pd.3974

Cited by 8 publications

(16 citation statements)

References 26 publications

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“…In this study, we have used a contingent screening strategy to select pregnant women who would most benefit from IPD [ 4 , 17 – 19 ]. Contingent screening utilizes two first trimester cut-offs instead of one.…”

Section: Discussionmentioning

confidence: 99%

“…Women received an ultrasound examination which included an evaluation of gestational age and nuchal translucency (NT) measurement together with measurement of maternal serum free-beta-human chorionic gonadotropin (hCG) and pregnancy associated plasma protein-A (PAPP-A). According to this testing, pregnant women were stratified in 3 categories: women with a risk of 1:900 or lower (low-risk group), women with a risk of 1:30 or higher (high-risk group), women with intermediate risk between 1:31–1:899 [ 4 , 17 – 19 ]. The result of this screening was given within 24 hours.…”

Section: Methodsmentioning

confidence: 99%

“…According to this act, IPD is offered to all pregnant women ≥ 35years, or with positive serologic test, irrespective of maternal age. Starting from 2012 the identification of high-risk pregnant women was based on the result of contingent screening [ 17 – 19 ].…”

Section: Introductionmentioning

confidence: 99%

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Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis

et al. 2017

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From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagnosis (IPD). The screening was based on first trimester cut-offs of ≥1:30 (IPD indicated), 1:31 to 1:899 (second trimester screening indicated) and ≤1:900 (no further action), and a second trimester cut-off of ≥1:250. From January 2014, analysis of fetal cells from peripheral maternal blood was also offered to women with positive screening results. For fetal Down syndrome, the overall detection rate was 96.8% for a false-positive rate of 2.8% resulting in an odds of being affected given a positive result (OAPR) of 1:11, equivalent to a positive predictive value (PPV) of 8.1%. Additional chromosome abnormalities were also identified resulting in an OAPR for any chromosome abnormality of 1:6.6 (PPV 11.9%). For a sub-set of cases with positive contingent test results, FISH analysis of circulating fetal cells in maternal circulation identified 7 abnormal and 39 as normal cases with 100% specificity and 100% sensitivity. We conclude that contingent screening using conventional Combined and second trimester screening tests is effective but can potentially be considerably enhanced through the addition of fetal cell analysis.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis

et al. 2017

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“…Of the remaining women, 79 were determined to be at low risk (LR; <1/900), 38 at intermediate risk (IR; 1:31 to 1:899), and 29 at high risk (HR; ≥1:30) for fetal aneuploidy according to a contingent screening protocol (Guanciali‐Franchi et al. , ). Thirty‐two women with positive biochemical screening results underwent an IPD procedure.…”

Section: Methodsmentioning

confidence: 99%

Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women

Calabrese

Fantasia

Alfonsi

et al. 2016

Mol Genet Genomic Med

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BackgroundA long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low‐cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual‐probe FISH protocol to fetal cells isolated and enriched from maternal blood.MethodsA total of 172 pregnant women underwent prospective testing for fetal aneuploidy by FISH analysis of fetal cells isolated from maternal blood. Results were compared with the karyotype determined through invasive procedures or at birth.ResultsSeven of the samples exhibited fetal aneuploidy, which was confirmed by invasive prenatal diagnosis procedures. After enrichment for fetal cells, the frequency of trisomic cells was at least double in samples from aneuploid pregnancies (range 0.38–0.90%) compared to samples from normal pregnancies (≤0.18%). One false negative result was also obtained.ConclusionsNoninvasive prenatal aneuploidy screening using fetal cells isolated from maternal blood is feasible and could substantially reduce the need for invasive procedures.

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“…Over the past decades, the accuracy of prenatal screening tests has been improved substantially. Currently, for a positive rate of about 2–5%, 85–90% of Down syndrome affected singleton pregnancies can be identified prenatally using the first trimester combine screening (FTS), integrated prenatal screening (IPS) or contingent prenatal screening . However, the performance of Down syndrome screening tests in twin pregnancies is less optimal .…”

Section: Introductionmentioning

confidence: 99%

First and second trimester maternal serum markers in pregnancies with a vanishing twin

et al. 2014

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Optimal cut‐offs for down syndrome contingent screening in a population of 10 156 pregnant women

Abstract: Although the study population was relatively small, the results confirm the advantage of using contingent screening and suggest optimal first trimester cut-offs of 1 : 30 (lower cut-off) and 1 : 900 (upper cut-off).

Cited by 8 publications

References 26 publications

Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis

Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis

Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women

First and second trimester maternal serum markers in pregnancies with a vanishing twin

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