Trial by Dutch Laboratories for Evaluation of Non-Invasive Prenatal Testing.:Part II - Women's Perspectives

Contains fulltext : 171863.pdf (publisher's version ) (Open Access)OBJECTIVE: To evaluate preferences and decision-making among high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first-trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice. RESULTS: A total of 1091/1253 (87%) women completed the questionnaire. Of these, 1053 (96.5%) underwent NIPT, 37 (3.4%) invasive testing and 1 (0.1%) declined testing. 91.7% preferred NIPT because of test safety. Overall, 77.9% made an informed choice, 89.8% had sufficient knowledge and 90.5% had positive attitudes towards NIPT. Women with intermediate (odds ratio (OR) = 3.51[1.70-7.22], p < 0.001) or high educational level (OR = 4.36[2.22-8.54], p < 0.001) and women with adequate health literacy (OR = 2.60[1.36-4.95], p = 0.004) were more likely to make an informed choice. Informed choice was associated with less decisional conflict and less anxiety (p < 0.001). Intention to terminate the pregnancy for Down syndrome was higher among women undergoing invasive testing (86.5%) compared to those undergoing NIPT (58.4%) (p < 0.001). CONCLUSIONS: The majority of women had sufficient knowledge and made an informed choice. Continuous attention for counseling is required, especially for low-educated and less health-literate women. (c) 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd

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Research into fetal development and medicin

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: Results of the TRIDENT study

PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin

The clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies

OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for pregnancies with abnormal ultrasound findings. METHOD: A retrospective analysis was performed of 251 single and multiple pregnancies at high risk for fetal chromosomal abnormalities based on ultrasonographic examination, where NIPT was performed as first-tier genetic test. NIPT was performed by massively parallel sequencing of cell-free DNA in maternal plasma, allowing genome-wide detection of whole-chromosome as well as partial autosomal aneuploidies, as currently in the Dutch laboratories, sex chromosomes are not analysed. RESULTS: NIPT was performed at a median gestational age of 20 weeks, indicated by the presence of multiple congenital anomalies (n=13), isolated structural anomalies (n=57), increased nuchal translucency ≥ 3.5 mm (n=58), softmarkers (n=73), growth restriction (n=40), and other anomalies (n=10). NIPT results were normal in 224 (89.2%), inconclusive in one (0.4%) and abnormal in 26 pregnancies (10.4%). Most genetic aberrations detected were common whole-chromosome aneuploidies: trisomy 21 (n=13), trisomy 18 (n=6), and trisomy 13 (n=3). There were four other abnormal NIPT results, of which one was highly suspect for confined placental mosaicism and one was of maternal origin. If NIPT results were normal, ultrasonographic follow-up or newborn examinations indicated diagnostic genetic testing in 33 pregnancies (14.7% of 224). Clinically relevant genetic aberrations were revealed in seven cases (3.1% of 224), of which two were whole-chromosome aneuploidies: trisomy 13, and monosomy X. As sex chromosomal aberrations are not included in the analysis, the last cannot be considered a false negative result. Other discordant findings were subchromosomal (<20 Mb, n=2) and monogenic aberrations (n=3). CONCLUSION: NIPT should not be recommended for the genetic evaluation of the aetiology of ultrasound anomalies, as both resolution and sensitivity, or negative predictive value, are inferior to those of conventional karyotyping and microarray analysis. Nonetheless, some pregnant women consider NIPT to be an acceptable alternative to invasive diagnostic testing

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing : A randomised controlled trial

Early in pregnancy women and their partners face the complex decision on whether or not to participate in prenatal testing for fetal chromosomal abnormalities. Several studies show that the majority of pregnant women currently do not make informed decisions regarding prenatal testing. As the range of prenatal tests is expanding due to the development of new techniques such as non-invasive prenatal testing (NIPT), autonomous reproductive decision-making is increasingly challenging. In this study, a randomised controlled trial was conducted to evaluate the effect of a web-based multimedia decision aid on decision-making regarding prenatal testing. The decision aid provided both written and audiovisual information on prenatal tests currently available, that is, prenatal screening by first-trimester combined testing, NIPT and invasive diagnostic testing through chorionic villus sampling or amniocentesis. Furthermore, it contained values clarification exercises encouraging pregnant women to reflect on the potential harms and benefits of having prenatal tests performed. The use of the decision aid improved informed decision-making regarding prenatal testing. Of pregnant women allocated to the intervention group (n=130) 82.3% made an informed choice compared with 66.4% of women in the control group (n=131), P=0.004. As the vast majority of pregnant women made decisions consistent with their attitudes towards having prenatal testing performed, this improvement in informed decision-making could be attributed mainly to an increase in decision-relevant knowledge. This study shows that the implementation of a web-based multimedia decision aid directly facilitates the ultimate goal of prenatal testing for fetal chromosomal abnormalities, which is enabling informed autonomous reproductive choice

Experiences of high-risk pregnant women who were offered a choice between non-invasive prenatal testing, invasive testing or no follow-up test

OBJECTIVES: The TRIDENT study (Trial by Dutch laboratories for Evaluation of Non-Invasive Prenatal Testing) evaluates the implementation of non-invasive prenatal testing (NIPT) in the Dutch healthcare system. Here we report on the preferences and experiences of pregnant women at high risk for fetal aneuploidy who were offered a choice between NIPT, invasive testing or no follow-up test. METHODS: A nationwide prospective cohort study among pregnant women at high risk for fetal aneuploidy because of first trimester screening results (risk ≥1:200) or medical history. Questionnaires were administered to the women, to be completed after counselling and after receiving the test-results, at seven (of the eight) prenatal diagnostic centers in the Netherlands. The questionnaires addressed: women's preference for follow-up testing, intention to terminate the pregnancy, attitudes, knowledge, decisional conflict, anxiety and satisfaction. RESULTS: Pre- and post-test questionnaires were completed by n = 1,106 (86% response) and n = 686 (67% response) women, respectively. Preliminary analyses show that the majority of respondents (92%) preferred NIPT, 5% invasive testing, 2% were unsure, and 1% declined testing. The main reason to prefer NIPT was safety for the child (92%). Of the 60 women preferring invasive testing, 52% did so because of test-accuracy, 25% desired more rapid test-results, 5% because it provides more information, and 18% reported other reasons. Most women (92%) felt that they made a well-informed decision, and 75% reported that this decision was easy to make. Intention to terminate the pregnancy for Down syndrome was lower among women preferring NIPT (58%) compared to women preferring invasive testing (87%). Women were highly satisfied with NIPT. However, 64% perceived the waiting time for NIPT results (mean: 11 days (range 5-32)) as too long, while 3% in retrospect would have preferred a different follow-up test, mostly to avoid the long waiting time. CONCLUSIONS: Most pregnant women in our study felt they could make an informed decision. The majority of women prefer NIPT, mainly because it has no miscarriage risk. Reducing turnaround time for test-results is our next challenge in meeting women's needs

Reliable noninvasive prenatal testing by massively parallel sequencing on circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

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