First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening

Alldred, S Kate; Takwoingi, Yemisi; Guo, Boliang; Pennant, Mary; Deeks, Jonathan J; Neilson, James P; Alfirević, Z̄arko

doi:10.1002/14651858.cd012600

Cited by 63 publications

(86 citation statements)

References 671 publications

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“…In the United Kingdom, color Doppler and pulsed-wave Doppler are not routinely employed as a part of first-trimester screening for trisomies [17]. Nevertheless, some operators are familiar with such advanced sonographic screening strategies [18] and may, therefore, choose to use Doppler and pulsed-wave Doppler as part of first-trimester screening [19][20][21][22].…”

Section: Methodsmentioning

confidence: 99%

Safety Indices of Ultrasound: Adherence to Recommendations and Awareness During Routine Obstetric Ultrasound Scanning

et al. 2020

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Purpose To analyze bioeffect safety indices and assess how often operators look at these indices during routine obstetric ultrasound. Materials and Methods Automated analysis of prospectively collected data including video recordings of full-length ultrasound scans coupled with operator eye tracking was performed. Using optical recognition, we extracted the Mechanical Index (MI), Thermal Index in soft tissue (TIs), and Thermal Index in bone (TIb) values and ultrasound mode. This allowed us to report the bioeffect safety indices during routine obstetric scans and assess adherence to professional organization recommendations. Eye-tracking analysis allowed us to assess how often operators look at the displayed bioeffect safety indices. Results A total of 637 ultrasound scans performed by 17 operators were included, of which 178, 216, and 243 scans were first, second, and third-trimester scans, respectively. During live scanning, the mean and range were 0.14 (0.1 to 3.0) for TIb, 0.2 (0.1 to 1.2) for TIs, and 0.9 (0.1 to 1.3) for MI. The mean and standard deviation of TIb were 0.15 ± 0.03, 0.23 ± 0.09, 0.32 ± 0.24 in the first, second, and third trimester, respectively. For B-mode, the highest TIb was 0.8 in all trimesters. The highest TIb was recorded for pulsed-wave Doppler mode in all trimesters. The recommended exposure times were maintained in all scans. Analysis of eye tracking suggested that operators looked at bioeffect safety indices in only 27 (4.2 %) of the scans. Conclusion In this study, recommended bioeffect indices were adhered to in all routine scans. However, eye tracking showed that operators rarely assessed safety indices during scanning.

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Section: Methodsmentioning

confidence: 99%

Safety Indices of Ultrasound: Adherence to Recommendations and Awareness During Routine Obstetric Ultrasound Scanning

et al. 2020

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“…The accuracy of first-trimester DS screening tests has been demonstrated in large prospective international studies, with a combined test showing over 90% detection of T21, and a false-positive rate of 3-5% [9][10][11][12]. Additionally, several prospective and retrospective multicentric studies have shown the accuracy of advanced first-trimester screening using different software programs, and different test strategies.…”

Section: Introductionmentioning

confidence: 99%

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

Simionescu

Stănescu

2020

Medicina

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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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“…1 Today a detection rate of 90% from Down syndrome for a 3% to 5% false-positive rate is expected. [2][3][4] FTS maternal serum markers are detected through automated laboratory techniques and have well-established quality controls.…”

Section: Introductionmentioning

confidence: 99%

Sonologist's characteristics related to a higher quality in fetal nuchal translucency measured in primary antenatal care centers

et al. 2019

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Objective To assess the quality of nuchal translucency (NT) measurements in primary care and the sonologist's characteristics related with a higher quality. Methods The median NT expressed in multiples of the median (MoM) was calculated for each sonologist of 14 participating antenatal primary care centers of the Catalan Institute of Health. A survey to the sonologists was used to establish variables related to higher‐quality measurements. Results The median NT MoM obtained in 16 448 NT measurements, performed by 102 sonologists, was 0.94 MoM. NT underestimation was observed in 46% of the sonologists. Underestimation were less frequent among professionals who performed more than 230 ultrasounds per year (26% vs 53%;p = .022), those who completed the online Fetal Medicine Foundation (FMF) course (22% vs 54%; p = .021), and those who were subject to periodic audits (24% vs 56%; p = .021). Underestimation rate decreased from 60%, to 33% and 14% with the increase of the years of experience from less than 5 years, to 6 to 15 years and more than 15 years of experience, respectively (p = .029). Conclusions Higher‐quality measurements were demonstrated in sonologists who performed more ultrasounds per year, those with more years of scanning experience, those who completed the online FMF course, and those periodically audited.

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First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening

Cited by 63 publications

References 671 publications

Safety Indices of Ultrasound: Adherence to Recommendations and Awareness During Routine Obstetric Ultrasound Scanning

Safety Indices of Ultrasound: Adherence to Recommendations and Awareness During Routine Obstetric Ultrasound Scanning

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

Sonologist's characteristics related to a higher quality in fetal nuchal translucency measured in primary antenatal care centers

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