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Ultrasonographic fetal soft markers in a low-risk population: prevalence, association with trisomies and invasive tests
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. (Socialpediatrisk forskning/Sarkadi)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning i Sörmland (CKFD). (Obstetrisk forskning/Högberg)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. (Internationell sexuell och reproduktiv hälsa/Larsson)
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2014 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 93, no 4, 367-373 p.Article in journal (Refereed) Published
Abstract [en]

Objective

To investigate the prevalence of soft markers identified at second trimester ultrasound in a low-risk population and the association of these markers with trisomies and invasive testing.

Design

Prospective observational study.

Setting

Swedish University Hospital.

Population

All women with fetuses examined by ultrasound at 15+0–22+0 weeks gestation between July 2008 and March 2011.

Methods

Cases with soft markers were compared with non-cases with regard to trisomies and invasive testing.

Main outcome measures

Prevalence of soft markers, likelihood ratio for trisomies and risk ratio for invasive tests after detection of soft markers.

Results

Second trimester ultrasound was performed on 10 710 fetuses. Markers were detected in 5.9% of fetuses. 5.1% were isolated, 0.7% were multiple and 0.1% were combined with an anomaly. Presence of markers showed a positive likelihood ratio for Down syndrome, but the association (likelihood ratio = 7.1) was only statistically significant for the combined category of any marker (isolated, multiple or combined with anomaly). The risk ratio for invasive testing after the second trimester ultrasound was 24.0 in pregnancies with isolated soft markers compared with those without markers.

Conclusion

In a low-risk population, soft markers were found in 5.9% of fetuses at second trimester ultrasound. The likelihood ratio for Down syndrome was significant only for any marker (isolated, multiple or combined with anomaly). The presence of soft markers increased the incidence of invasive procedures substantially. Soft markers should be noted when information on second trimester ultrasound is formulated, and all units performing fetal ultrasound examinations should have established routines concerning information management when soft markers are identified.

Place, publisher, year, edition, pages
2014. Vol. 93, no 4, 367-373 p.
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-219104DOI: 10.1111/aogs.12334ISI: 000333150700007PubMedID: 24433283OAI: oai:DiVA.org:uu-219104DiVA: diva2:698334
Available from: 2014-02-21 Created: 2014-02-21 Last updated: 2017-12-05Bibliographically approved
In thesis
1. Pregnancy Ultrasound Detecting Soft Markers – the Challenge of Communicating Risk Figures
Open this publication in new window or tab >>Pregnancy Ultrasound Detecting Soft Markers – the Challenge of Communicating Risk Figures
2014 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

This thesis focuses on expectant parents’ experiences and needs when soft makers are detected at mid-trimester ultrasound, resulting in an unexpected assessment of risk for fetal anomalies. The thesis also describes the prevalence of ultrasonographic fetal soft markers and the incidence of Down syndrome in a low-risk population of 10,535 pregnant women with a total of 10,710 fetuses, as well as the risk of invasive prenatal diagnostics in conjunction with the detection of soft markers. Finally, the thesis aims to explore the value of a web-based patient decision aid (DA) in facilitating informed decision making regarding routine fetal screening for anomalies and the fathers’ role in decision making regarding prenatal screening.

A prospective observational study was conducted between 2008–2011 to investigate the prevalence of ultrasonographic fetal soft markers at second trimester screening. During this time period, 12 women and 17 men were interviewed about their experience when soft markers were detected. Based on the results of these interviews, a web-based decision aid (DA) to enhance expectant parents’ decision-making concerning fetal screening was developed and a trial initiated to test its utility. Interviews were conducted with 17 women who received access to the DA, 11 who had chosen to use the DA and six who had not used it. All interview studies were analysed using systematic text condensation (STC) developed by Malterud.

Soft markers were detected in 5.9% of the fetuses at mid-trimester ultrasound, whereof 5.1% were isolated. All soft markers showed a positive likelihood ratio (LR+) for DS; however, the association was only statistically significant for the collapsed category ‘any marker’ (isolated, multiple or combined with anomaly), not for isolated markers. An almost 24-fold increase of invasive diagnostic testing was shown in all women, including those with a low estimated risk for aneuploidy, i.e. < 1/200 (paper III).

The results from interviews showed that the finding of soft markers created much anxiety and indicated that both women and men lacked awareness of the potential of the ultrasound examination (papers I and II). The results also showed that the men were actively engaged in decision making not only by supporting their partners, but also considered their own values and needs regarding these issues (paper II). It was also evident that women wanted their partners to be engaged in decisions regarding fetal diagnostics (papers I and IV).

The web-based patient DA was able to initiate a process of conscious decision making in pregnant women, as a result of their interaction with the tool. The DA allowed for clarification of women’s thoughts and priorities and helped them to understand the significance of the screening result and providing a basis for making informed decisions regarding fetal screening (paper IV).

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2014. 80 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 985
Keyword
Pregnancy, Ultrasound, Soft markers, Prenatal, Screening, Fathers, Informed decision making, Decision aid.
National Category
Other Medical Sciences
Research subject
Obstetrics and Gynaecology
Identifiers
urn:nbn:se:uu:diva-221142 (URN)978-91-554-8909-0 (ISBN)
Public defence
2014-05-08, Universitetshuset sal 9, Biskopsgatan 3, Uppsala, 13:15 (Swedish)
Opponent
Supervisors
Available from: 2014-04-16 Created: 2014-03-25 Last updated: 2014-04-29

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Åhman, AnnikaAxelsson, OveRubertsson, ChristineSarkadi, AnnaLindgren, Peter

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