Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists

Haymon, Lori; Simi, Eve; Moyer, Kelly; Aufox, Sharon; Ouyang, David

doi:10.1002/pd.4301

Cited by 36 publications

(43 citation statements)

References 40 publications

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“…This last point is particularly important as research in the USA with genetic counsellors highlighted that 74.8% of respondents reported that their patients consider NIPT results to be diagnostic [27]. In addition, two recent surveys of how NIPT is being used in the US found that 13% of fetal medicine specialists [26] and 15% of obstetric providers [29] view NIPT as a diagnostic test. It will also be important that women are aware of the current turnaround time for the test results (which in the RAPID study was 7–10 working days) as this may impact on decisions around whether to have NIPT or invasive testing for very high risk women, or those with ultrasound abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study

Oxenford

Daley

Lewis

et al. 2017

BMC Pregnancy Childbirth

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BackgroundThe availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation. The aim of this study was to develop and evaluate a training package for health professionals to support the introduction of NIPT into clinical practice.MethodsTraining on NIPT was offered to health professionals, primarily midwives, involved in Down syndrome screening and testing in eight hospitals located in England and Scotland as part of a research study evaluating the implementation of NIPT in the UK National Health Service. Training was evaluated using a mixed methods approach that included quantitative questionnaires at three time points and post-training qualitative interviews. The questionnaires measured confidence, self-perceived knowledge and actual knowledge about NIPT for Down syndrome. Interviews explored opinions about the training and experiences of offering NIPT.ResultsThe training provided to the health professionals was found to positively impact on their confidence in discussing NIPT with women in their clinic, and both their perceived and actual knowledge and understanding of NIPT was improved. Knowledge remained weak in four areas; cell-free fetal DNA levels increase with gestation; turnaround time for NIPT results; cell-free fetal DNA is placental in origin; and NIPT false positive rate.ConclusionsTraining materials, including a lesson plan, PowerPoint presentation and written factsheet on NIPT, have been developed and evaluated for use in educating midwives and supporting the introduction of NIPT. Implementation of training should include a greater focus on the areas where knowledge remained low. Some groups of midwives will need additional training or support to optimise their confidence in discussing NIPT with women.Electronic supplementary materialThe online version of this article (doi:10.1186/s12884-017-1315-7) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study

Oxenford

Daley

Lewis

et al. 2017

BMC Pregnancy Childbirth

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“…In addition, the cost of NIPT was highly variable and several clinicians suggested that high test costs were limiting implementation and precluding equity of access [3 & ]. Several professional bodies have released guidance on NIPT [52][53][54][55][56] and research with health professionals offering NIPT in the United States shows that this test is largely being implemented according to professional guidelines [17,18,57]. However, a cause for concern was evidence that NIPT is being offered as a diagnostic test by a significant portion of providers [17,57] demonstrating that continuing health professional education and training is essential.…”

Section: Service Deliverymentioning

confidence: 99%

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

Hill

Lewis²,

Chitty³

2016

Current Opinion in Obstetrics &Amp; Gynecology

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Stakeholders are positive about the introduction of cell-free fetal DNA testing into clinical practice. They describe both practical and psychological benefits arising from tests that are safe and can potentially be performed earlier in pregnancy. Key concerns, which include the potential for these tests to have a negative impact on informed decision making and increased societal pressure to have testing, can be addressed through careful parent-directed counseling. As applications for these tests expand it is increasingly important to develop innovative approaches to facilitate good understanding for parents who are offered noninvasive prenatal testing.

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“…It is likely that integration of genomics into medical practice will occur gradually over a long period of time, but the process is now well-underway. [95][96][97][98][99][100][101][102][103][104] …”

Section: Resultsmentioning

confidence: 99%

Prenatal Diagnosis, Where and How: No Way Out?

Borruto¹,

Treisser²,

Comparetto³

2014

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Prenatal diagnosis is the branch of medicine and in particular of obstetrics, that studies and applies the techniques that reveal the normality or the presence of diseases of various kinds, in the fetus. All the techniques of prenatal diagnosis are performed during pregnancy and may be invasive or less. Among the best known, amniocentesis is the most exploited technique nowadays to highlight the possible presence of chromosomal disorders in the fetus, but also infections and genetic diseases such as thalassemia, cystic fibrosis, hemophilia, spina bifida, albinism. Amniocentesis consists of taking an amniotic fluid sample which is then analyzed. Fetal cells suspended in the withdrawn liquid allow us to reconstruct the chromosome map of the fetus and then to confirm or not its normality. Genetic testing, however, are not able to recognize the physical or mental characteristics of the unborn child which are the result of the interaction between multiple genes and the environment. Amniotic fluid makes possible to perform other types of analysis, more or less complex, and it is also possible to store the amniotic stem cells. Similar to amniocentesis as a principle but different as a technique, is chorionic villus sampling (CVS), in which the cells can be put in culture to show their normality, but they are cells taken outside from the gestational chamber (chorionic villi). These are invasive techniques (the fluid is taken by puncture in both cases), but there are also noninvasive techniques. The development of ultrasound, for example, has made it possible to develop some highly sensitive diagnostic techniques, such as the first trimester combined test [bitest and nuchal translucency (NT)], the 'quadruple' test, and lately the SCA test in the second trimester, all based on the ultrasound measurement of anatomical and functional parameters of the fetus and on the results of blood tests. These are all screening tests, then they do not give a definite answer but they have a statistical value (very accurate) that can direct toward diagnostic tests. Recently, an extremely sensitive test for the most common aneuploidies and in particular Down syndrome has been proposed to be performed on maternal blood. This test (called fetal DNA testing) is based on the count of fragments of specific chromosomes (21 in the case of Down syndrome) in maternal blood. Although not belonging to diagnostic tests but to probabilistic ones, this test is absolutely the most accurate so far available, with values around 99.99% sensitivity and 0.2% false positives. Also ultrasound in the second trimester of pregnancy (also called morphological ultrasound) that can detect any malformation or fetal abnormality and fetal echocardiography, which analyzes sonographically the fetal heart not only anatomically but also from the dynamic-functional point of view, may be considered methods of prenatal diagnosis. This technique cannot identify genetic diseases.

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Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists

Cited by 36 publications

References 40 publications

Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study

Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

Prenatal Diagnosis, Where and How: No Way Out?

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