Literature DB >> 23007955

Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women.

Paolo Guanciali-Franchi1, Irene Iezzi, Alessandra Soranno, Chiara Palka-Bayard de Volo, Melissa Alfonsi, Giuseppe Calabrese, Peter Benn.   

Abstract

STUDY
DESIGN: A population of 10,156 pregnant women with singleton pregnancies were screened by the integrated test. Risks were retrospectively recalculated for contingent test strategies with first step intermediate risk groups defined by first trimester upper cut-offs of 1 : 10, 1 : 30, 1 : 50, and 1 : 70 and lower cut-offs 1 : 1500, 1 : 1200, 1 : 1100, and 1 : 900. The second trimester high risk group was based on a single cut-off of 1 : 250.
RESULTS: In the first trimester, the detection rate (DR) ranged from 21% (6/29) to 52% (15/29) as the high risk first trimester cut-off was changed from 1 : 10 to 1 : 70. The corresponding first trimester false positive rate (FPR) increased from 0.2% to 1.4%. In the second trimester, an additional 21/29 (72%) to 12/29 (41%) affected pregnancies could be detected with an additional 1.6% to 2.7% false positives when lower first trimester cut-offs of 1 : 900 to 1 : 1500 were used. The best results were obtained with the upper first trimester cut-off of 1 : 30 and lower first trimester cut-off of 1 : 900, which yielded a rate of women requiring a second trimester test of only 12%, with overall DR and FPR of 93% and 2.8%, respectively.
CONCLUSIONS: 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).
© 2012 John Wiley & Sons, Ltd.

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Year:  2012        PMID: 23007955     DOI: 10.1002/pd.3974

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  3 in total

1.  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.

Authors:  Giuseppe Calabrese; Donatella Fantasia; Melissa Alfonsi; Elisena Morizio; Claudio Celentano; Paolo Guanciali Franchi; Giulia Sabbatinelli; Chiara Palka; Peter Benn; Gianmaria Sitar
Journal:  Mol Genet Genomic Med       Date:  2016-10-26       Impact factor: 2.183

Review 2.  Non-invasive prenatal screening: A 20-year experience in Italy.

Authors:  Chiara Palka; Paolo Guanciali-Franchi; Elisena Morizio; Melissa Alfonsi; Marco Papponetti; Giulia Sabbatinelli; Giandomenico Palka; Giuseppe Calabrese; Peter Benn
Journal:  Eur J Obstet Gynecol Reprod Biol X       Date:  2019-05-18

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

Authors:  Paolo Guanciali Franchi; Chiara Palka; Elisena Morizio; Giulia Sabbatinelli; Melissa Alfonsi; Donatella Fantasia; Giammaria Sitar; Peter Benn; Giuseppe Calabrese
Journal:  PLoS One       Date:  2017-12-07       Impact factor: 3.240

  3 in total

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