scholarly journals Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

2014 ◽  
Vol 8 ◽  
pp. CMRH.S14958
Author(s):  
Merilainen Anna ◽  
Peuhkurinen Sini ◽  
Honkasalo Timppa ◽  
Laitinen Paivi ◽  
Kokkonen Hannaleena ◽  
...  
Keyword(s):  
Detection Rate ◽  
False Positive Rate ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
First Trimester ◽  
First Trimester Screening ◽  
Invasive Procedures ◽  
Screening Performance ◽  
Positive Rate ◽  
Trimester Screening

Objective To evaluate the efficacy of first trimester combined screening for Down's syndrome in Northern Finland during the first 10 years of practice. Methods During 1 January 2002 to 31 December 2011, 47,896 women participated voluntarily in combined screening during first trimester. The risk cutoff was 1:250. The study period was divided into two time periods; 2002-2006 and 2007-2011. Results During the first half of the study period, the detection rate (DR) was 77.3% with a 4.9% false-positive rate (FPR). During the latter half, the DR was 77.1% with a 2.8% FPR. Conclusions An important issue is the number of invasive procedures needed to detect one case of Down's syndrome. The screening performance improved markedly in the latter five years period since the FPR lowered from 4.9% to 2.8% and the number of invasive procedures needed to detect one case of Down's syndrome lowered from 15 to 11.

Combined screening test for trisomy 21 – is it as efficient as we believe?

2017 ◽  
Vol 45 (2) ◽  
Author(s):  
Marcin Wiechec ◽  
Agnieszka Nocun ◽  
Anna Knafel ◽  
Ewa Wiercinska ◽  
Jiri Sonek ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Absolute Risk ◽  
False Positive Rate ◽  
First Trimester ◽  
First Trimester Screening ◽  
Screening Performance ◽  
The Us ◽  
Positive Rate ◽  
Trimester Screening ◽  
The One

AbstractObjectives:To compare two first-trimester screening strategies: traditional combined screening and the one based on ultrasound markers only. We investigated the effect of maternal age (MA) on the screening performance of both of these strategies.Methods:This was a prospective observational study based on a non-selected mixed-risk population of 11,653 women referred for first-trimester screening. The study population was divided in two groups: combined screening (CS) and ultrasound-based screening (US). Absolute risk was calculated to determine the influence of MA on screening performance.Results:The CS arm comprised 5145 subjects including 51 cases of trisomy 21 (T21), and the US arm comprised 5733 subjects including 87 subjects with T21. Seven hundred and seventy-five subjects were excluded from the study. For a false positive rate (FPR) of 3%, the detection rate (DR) of T21 in CS arm was 78% vs. 90% in US arm. For 5% FPR, DR was 84% and 94% in CS and US arm, respectively. MA had an influence on DR positive rates in CS: both DR and FPR for T21 increased with advance in MA.Conclusions:The US protocol showed higher DR of T21 compared to the CS one. It may be considered as a viable alternative to CS for T21 where access to biochemical testing is limited.

scholarly journals Cell-free DNA Testing: Where are We now?

2016 ◽  
Vol 10 (2) ◽  
pp. 172-177
Author(s):  
Gokhan Goynumer ◽  
Cihat Sen ◽  
Olus Api ◽  
Murat Yayla
Keyword(s):  
Maternal Age ◽  
Detection Rate ◽  
False Positive Rate ◽  
First Trimester ◽  
First Trimester Screening ◽  
Dna Testing ◽  
Clinical Implementation ◽  
Free Dna ◽  
Positive Rate ◽  
Trimester Screening

ABSTRACT Prenatal screening for fetal aneuploidies has been focused on mainly Down syndrome in the last 40 years. The method of screening has changed from maternal age in the 1970s, with a detection rate of 30 and 5% false positive rate (FPR), to a combination of maternal age and second-trimester serum biochemical markers (triple test and quadruple test) in the 1980s and 1990s, with 60 to 75% detection rate and 5% false positive rate (FPR). Following this, the era of first trimester screening for Down syndrome has started with the clinical implementation of fetal nuchal translucency screening. The combination of maternal age, NT thickness and serum free beta-human chorionic gonadotropin (â-hCG) and pregnancy-associated plasma protein A (PAPP-A) in the first trimester has yielded a 90% detection rate with a 5% FPR. Starting from the year 2008, studies have shown that the performance of screening may be improved by analysis of cell-free deoxyribonucleic acid (DNA) (cfDNA) in maternal blood. Several studies in the last few years have reported the clinical validation of cell free fetal DNA test in the maternal serum in screening for trisomies 21, 18, and 13 and sex chromosome aneuploidies. Its widespread use is limited by the relatively high cost of the test and the lack of consensus about the optimal way for its clinical implementation. Until the optimal way of incorporating cfDNA into the clinical practice gets identified, it would be wise not to substitute cfDNA testing in place of first-trimester screening for fetal defects and other major complications of pregnancy. Furthermore, it would be preferable for clinicians managing individual patients not to counsel them for their result as positive or negative, rather the clinicians should use the risk estimate from the first-line method of screening as the prior risk and modify this by the appropriate positive or negative likelihood ratio from the cfDNA test. How to cite this article Sen C, Api O, Yayla M, Goynumer G. Cell-free DNA Testing: Where are We now? Donald School J Ultrasound Obstet Gynecol 2016;10(2):172-177.

OC04.01: Newborn with Down's syndrome: first trimester screening or not?

2014 ◽  
Vol 44 (S1) ◽  
pp. 7-8
Author(s):  
C.B. Miltoft ◽  
C.B. Wulff ◽  
S. Kjaergaard ◽  
C.K. Ekelund ◽  
A. Tabor
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening

First trimester Down's syndrome screening marker values and cigarette smoking: new data and a meta-analysis on free β human chorionic gonadotophin, pregnancy-associated plasma protein-A and nuchal translucency

2008 ◽  
Vol 15 (4) ◽  
pp. 204-206 ◽  
Author(s):  
Jonathan P Bestwick ◽  
Wayne J Huttly ◽  
Nicholas J Wald
Keyword(s):  
Meta Analysis ◽  
False Positive Rate ◽  
Protein A ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Screening Performance ◽  
Combined Test ◽  
Positive Rate ◽  
Trimester Screening ◽  
Β Hcg

Objectives To examine the effect of smoking on three first trimester screening markers for Down's syndrome that constitute the Combined test, namely nuchal translucency (NT), pregnancy-associated plasma protein-A (PAPP-A) and free β human chorionic gonadotophin (free β-hCG) and to use the results to determine which of these markers need to be adjusted for smoking and by how much. Methods The difference in the median multiple of the median (MoM) values in smokers compared to non-smokers was determined for NT, PAPP-A and free β-hCG in 12,517 unaffected pregnancies that had routine first trimester Combined test screening. These results were then included in a meta-analysis of published studies and the effect of adjusting for smoking on screening performance of the Combined test was estimated. Results The results using the routine screening data were similar to the summary estimates from the meta-analysis of all studies. The results from the meta-analysis were; median MoM in smokers compared to non-smokers: 1.06 NT (95% confidence interval 1.03 to 1.10), 0.81 PAPP-A (0.80 to 0.83) and 0.94 free β-hCG (0.89 to 0.99). The effect of adjusting for smoking on the Combined test is small, with an estimated less than half percentage point increase in the detection rate (the proportion of affected pregnancies with a positive result) for a 3% false-positive rate (the proportion of unaffected pregnancies with a positive result) and less than 0.2 percentage point decrease in the false-positive rate for an 85% detection rate. Conclusion Adjusting first trimester screening markers for smoking has a minimal favourable effect on screening performance, but it is simple to implement and this paper provides the adjustment factors needed if a decision is made to make such an adjustment.

First-trimester screening for Down’s syndrome in in vitro fertilization pregnancies

2001 ◽  
Vol 76 (6) ◽  
pp. 1282-1283 ◽  
Author(s):  
Marko Niemimaa ◽  
Seppo Heinonen ◽  
Maija Seppälä ◽  
Marita Hippeläinen ◽  
Hannu Martikainen ◽  
...  
Keyword(s):  
In Vitro Fertilization ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
First Trimester ◽  
First Trimester Screening ◽  
Vitro Fertilization ◽  
Trimester Screening

Placental protein-13 (PP13) in combination with PAPP-A and free leptin index (fLI) in first trimester maternal serum screening for severe and early preeclampsia

2017 ◽  
Vol 56 (1) ◽  
Author(s):  
Carin P. De Villiers ◽  
Paula L. Hedley ◽  
Sophie Placing ◽  
Karen R. Wøjdemann ◽  
Anne-Cathrine Shalmi ◽  
...  
Keyword(s):  
Detection Rate ◽  
False Positive Rate ◽  
First Trimester ◽  
Serum Marker ◽  
Maternal Serum ◽  
Maternal Serum Screening ◽  
Discriminatory Ability ◽  
Screening Performance ◽  
Positive Rate ◽  
Placental Protein

AbstractBackground:Placental protein-13 (PP13) is involved in placental invasion and has been suggested as a maternal serum marker of preeclampsia (PE) development. However, the discriminatory ability of PP13 in first trimester has not been completely clarified.Methods:PP13 was measured in first trimester (week 10Results:In severe PE (including HELLP) cases (n=26) the median PP13 concentration was 35.8 pg/mL (range: 17.8–85.5 pg/mL) and in PE pregnancies (n=10) with birth prior to week 34, the median PP13 concentration was 30.6 pg/mL (13.1–50.1 pg/mL), compared to controls with a median of 54.8 pg/mL (range: 15.4–142.6 pg/mL) (p<0.04). The population screening detection rate (DR) for a false-positive rate of 10% for severe PE and HELLP was 26% for PP13, 28% for PP13+PAPP-A, 33% for PP13+fLI, and 40% for PP13+PAPP-A+fLI.Conclusions:PP13 is a marker of severe PE and HELLP syndrome. The screening performance of PP13 can be markedly improved by combining it with fLI and PAPP-A.

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