P07.10: Screening performance for trisomy 21 comparing first trimester combined screening and a first trimester contingent screening protocol including ductus venosus and tricuspid flow

Abstract Purpose To evaluate the performance of first-trimester ultrasound screening involving a detailed anomaly scan for the detection of trisomy 18, trisomy 13, triploidy, Turner syndrome and trisomy 21. Methods Data of pregnant women who underwent aneuploidy screening at 11–13 weeks of gestation was retrospectively analyzed. Crown-rump length (CRL), fetal nuchal translucency thickness (NT) and nasal bone (NB) anatomy, blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) were assessed. Furthermore, a detailed scan for fetal anatomical anomalies (FA) was carried out. Performance of these markers was assessed by logistic regression and ROC analyses for different screening models. Results 4005 fetuses were analyzed. 3856 were euploid, 149 aneuploid (trisomy 18: 40; trisomy 13: 14; triploidy: 3; Turner syndrome: 17; trisomy 21: 75 cases). 70–100 % of the fetuses with trisomy 18 and 13, triploidy and Turner syndrome but only 34.7 % with trisomy 21 had at least one fetal defect. Considering all aneuploidies, the detection rate (DR) for screening based on MA+NT+NB+TV+DV was 90.6 % and improved to 96.0 % if an FA was added (fixed false-positive rate: 3 %). If screening was based on MA+NT+FA, the detection rate for all aneuploidies was 85.2 %. However, the DR for trisomy 18, trisomy 13, triploidy and Turner syndrome (excluding trisomy 21) was 94.6 %, indicating the high diagnostic value of an anomaly scan for these aneuploidies. Conclusion Incorporation of a detailed fetal anomaly scan (FA) into first-trimester screening algorithms can improve the detection rates for trisomy 18 and 13, triploidy and Turner syndrome.

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P16.06: First trimester ultrasound screening for Trisomy 21 based on maternal age, fetal nuchal translucency and different methods of ductus venosus assessment

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.18160 ◽

2017 ◽

Vol 50 ◽

pp. 206-206

Author(s):

K.O. Kagan ◽

P. Wagner ◽

M. Hoopmann

Keyword(s):

Trisomy 21 ◽

Maternal Age ◽

First Trimester ◽

Nuchal Translucency ◽

Ductus Venosus ◽

Ultrasound Screening ◽

First Trimester Ultrasound

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Missed Down Syndrome Cases after First Trimester False-Negative Screening—Lessons to be Learned

Medicina ◽

10.3390/medicina56040199 ◽

2020 ◽

Vol 56 (4) ◽

pp. 199

Author(s):

Anca Angela Simionescu ◽

Ana Maria Alexandra Stanescu

Keyword(s):

Down Syndrome ◽

Biochemical Markers ◽

Trisomy 21 ◽

False Negative ◽

First Trimester ◽

Low Risk ◽

Patient Choice ◽

Ductus Venosus ◽

Risk Calculation ◽

Software Programs

Background and Objectives: Here, we performed a descriptive analysis of Down syndrome (DS) cases that were misdiagnosed and/or false-negative diagnosed after first trimester traditional screening via risk evaluation using ultrasound, biochemical markers, and different software programs. Our objective was to demonstrate the clear need to improve the application of prenatal DS screening programs using standardized ultrasound measurements, accurate pregnancy dating, analytical immunoassay performance, and properly selected medians. Materials and Methods: We performed a database search for the period 2010–2015 to analyze DS cases that were false-negative diagnosed after the first trimester of pregnancy, before the introduction of cell free fetal DNA-based tests by Romanian laboratories in 2015. First-trimester screening was performed using two software programs for prenatal DS risk calculation: Astraia and Prisca. The rationale for using both software programs was to assess the full risk using the maternal age combined test (based on nuchal translucency thickness, nasal bone, ductus venosus flow, tricuspid flow, free beta-human chorionic gonadotropin level, and serum pregnancy-associated plasma protein-A) and, in some cases, the triple test. Results: We identified seven DS cases that exhibited low risk for trisomy 21, and 6540 cases with a low risk for trisomy 21 and euploid fetus in the first trimester. Using Astraia software, 14 cases were diagnosed, and three cases were missed after risk calculation. Using Prisca software, four cases were missed. Additionally, one neonate had a missed prenatal diagnosis of atrio-ventricular canal defect. Conclusion: In Romania, the evaluation of DS risk depends on patient choice (without knowing the accuracy of the utilized tests) and on the operators’ skills. Both Astraia and Prisca software were developed by experts, who can prove their performance in DS screening. However, even in an ideal situation, false-negative results are possible. The application of first and second-trimester combined screening based on biochemical markers could be improved by the implementation of standardized protocols, professional guidelines for test application, and audit control.

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First trimester screening for major cardiac defects based on the ductus venosus flow in fetuses with trisomy 21

Prenatal Diagnosis ◽

10.1002/pd.5268 ◽

2018 ◽

Vol 38 (8) ◽

pp. 561-566 ◽

Cited By ~ 2

Author(s):

Philipp Wagner ◽

Jiri Sonek ◽

Katrin Eberle ◽

Harald Abele ◽

Markus Hoopmann ◽

...

Keyword(s):

Trisomy 21 ◽

First Trimester ◽

Ductus Venosus ◽

First Trimester Screening ◽

Cardiac Defects ◽

Trimester Screening

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

Journal of Perinatal Medicine ◽

10.1515/jpm-2016-0031 ◽

2017 ◽

Vol 45 (2) ◽

Cited By ~ 3

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.

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