Motivation towards first trimester screening for preeclampsia among pregnant women in Denmark: A cross-sectional questionnaire study.

Introduction: The aim of this cross-sectional questionnaire study was to investigate motivation to participate in a possible new screening for preeclampsia in the first trimester of pregnancy among Danish pregnant women through a questionnaire based on Theory of Planned Behavior developed for this specific purpose. The new screening combines maternal characteristics with mean arterial pressure, uterine artery pulsatility index and biochemical markers to predict the risk of preeclampsia, whereas the current Danish screening uses maternal characteristics alone.

Material And Methods: Participation was offered to a proportion of women attending a first or a second trimester screening scan at two University Hospitals in Copenhagen.

Cell-Free Fetal DNA in the Early and Late First Trimester.

Objective: The aim of this work was to investigate the association between maternal and fetal characteristics and the fetal fraction at 8-14 weeks' gestation, with emphasis on the change in the fetal fraction upon repeat sampling.

Method: One sample for cell-free DNA (cfDNA) testing was collected at the same time as the biochemical markers for combined first trimester screening (visit 1) and another at the nuchal translucency scan (visit 2). Chromosome-selective cfDNA analysis was performed on frozen plasma.

Positive view and increased likely uptake of follow-up testing with analysis of cell-free fetal DNA as alternative to invasive testing among Danish pregnant women.

Introduction: The aim of this study was to investigate the attitude (view, likely uptake and preferred strategy) towards cell-free fetal DNA (cfDNA) testing among pregnant women before a first-trimester risk assessment for trisomy 21 (unselected women) and after obtaining a high risk.

Material And Methods: Unselected and high-risk women attending first-trimester screening (Rigshospitalet, Copenhagen University Hospital) were invited to fill out the questionnaire Antenatal testing for Down syndrome as an online survey.

Results: The survey included 203 unselected and 50 high-risk women (response rates of 74.

Contingent first-trimester screening for aneuploidies with cell-free DNA in a Danish clinical setting.

Objectives: The primary aim of this study was to compare the screening performance for trisomy 21 (T21) between combined first-trimester screening (cFTS) with referral for invasive testing at a T21 risk ≥ 1 in 300, and contingent screening consisting of referral for invasive testing at a cFTS-T21 risk ≥ 1 in 100 and referral for cell-free DNA (cfDNA) testing at a cFTS-T21 risk between 1 in 100 and 1 in 1000. Secondary aims were to compare the incidence of fetuses diagnosed with trisomy 18 (T18), trisomy 13 (T13) or sex chromosome aneuploidy, and examine the association between fetal fraction of cfDNA in maternal blood and maternal/fetal characteristics.

Methods: Women with a singleton pregnancy and a cFTS-T21 risk of ≥ 1 in 1000 were recruited consecutively from two Danish hospitals between August 2014 and May 2015.

Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening.

Introduction: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS).

Material And Methods: This was a nationwide population-based study including infants born in 2009-2012. Information from the cFTS, fetal karyotype results and pregnancy outcome was obtained from the Danish Fetal Medicine Database on all women with a cFTS risk assessment.

Increased nuchal translucency thickness and risk of neurodevelopmental disorders.

Objective: To investigate the association between fetal nuchal translucency (NT) thickness and neurodevelopmental disorders in euploid children.

Methods: This study included 222 505 euploid children who had undergone routine first-trimester screening during fetal life. Children were divided according to prenatal NT into three groups: NT < 95 percentile (n = 217 103 (97.

Open source non-invasive prenatal testing platform and its performance in a public health laboratory.

Objective: The objective of this study was to introduce non-invasive prenatal testing (NIPT) for fetal autosomal trisomies and gender in a Danish public health setting, using semi-conductor sequencing and published open source scripts for analysis.

Methods: Plasma-derived DNA from a total of 375 pregnant women (divided into three datasets) was whole-genome sequenced on the Ion Proton™ platform and analyzed using a pipeline based on WISECONDOR for fetal autosomal aneuploidy detection and SeqFF for fetal DNA fraction estimation. We furthermore validated a fetal sex determination analysis.

The Danish Fetal Medicine Database: establishment, organization and quality assessment of the first trimester screening program for trisomy 21 in Denmark 2008-2012.

Objective: To describe the establishment and organization of the Danish Fetal Medicine Database and to report national results of first-trimester combined screening for trisomy 21 in the 5-year period 2008-2012.

Design: National register study using prospectively collected first-trimester screening data from the Danish Fetal Medicine Database.

Population: Pregnant women in Denmark undergoing first-trimester screening for trisomy 21.

Increased nuchal translucency, normal karyotype and infant development.

Objective: To investigate whether chromosomally normal fetuses with a nuchal translucency (NT) ≥ 99th percentile(3.5 mm) in the first trimester have an increased risk of delayed development at 2 years of age.

Methods: The study included children of women from 10 Danish hospitals who had fetal NT either ≥ 99th percentile (Group 1) or <95th percentile (Group 2) in the first trimester.

Women with chromosomally normal male fetuses are at increased risk of being referred for invasive testing following first-trimester risk assessment.

Objective: This study investigated the gender distribution in karyotype results from chorionic villus samples and amniocenteses performed due to an increased risk for Down syndrome based on first-trimester combined risk assessment.

Methods: All prenatal karyotypes performed from 2006-2008 due to a risk assessment above 1:300 were retrieved from the Danish Central Cytogenetic Register. The distribution of gender for all newborns was obtained from Statistics Denmark.