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Stepwise sequential screening for Down’s syndrome (combined test associated with modified genetic sonography) in pregnant women with low risk for chromosomal disorders
-
José A. Sainz
,
Ignacio Peral
Published/Copyright:
August 18, 2012
Abstract
Objective: To assess the sensitivity (Sen) and false positive ratio (FPR) of stepwise sequential screening [1st step: combined test (CT), 2nd step: modified genetic sonography (major malformation and nuchal fold, MGS)] as a screening method for Down’s syndrome (DS) in the general population of pregnant women.
Methods: Prospective study. During a 5-year study period (July 2005 to June 2010), 17,911 pregnant women were screened for DS using a stepwise sequential screening method (CT+MGS). We evaluated the Sen and FPR (95% CI) of the two chromosomal disorder screening methods for DS: CT and CT+MGS.
Results: Seventeen thousand nine hundred and eleven cases were analysed, including 67 with chromosome abnormalities and 45 with DS. The Sen of CT for DS was 80% (95% CI; 68.3–91.7) (36/45) with a FPR of 4.2% (95% CI; 3.9–4.5) (752/17, 866). The Sen of CT+MSG for DS was 93.3 (95% CI; 85.9–99) (42/45) with a FPR of 4.8% (95% CI; 4.5–5.1) (860/17, 866).
Conclusions: MGS coupled with CT increases the Sen of DS diagnosis by 13.3% (95% CI; 2.7–25.9), with an increase in FPR of 0.6% (95% CI; 0.5–0.7).
Keywords: Combined test; Down’s syndrome; genetic sonography; modified genetic sonography; prenatal screening
Received: 2012-5-15
Revised: 2012-6-11
Accepted: 2012-7-13
Published Online: 2012-08-18
Published in Print: 2012-11-01
©2012 by Walter de Gruyter Berlin Boston
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Keywords for this article
Combined test;
Down’s syndrome;
genetic sonography;
modified genetic sonography;
prenatal screening
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- Vaginal progesterone to prevent preterm birth in multiple pregnancy: a randomized controlled trial
- Association of high-sensitivity C-reactive protein serum levels in early pregnancy with the severity of preeclampsia and fetal birth weight
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