Fetal sex determination using cell‐free fetal DNA: service users' experiences of and preferences for service delivery

Lewis, Colin M.; Hill, Melissa; Skirton, Heather; Chitty, Lyn S.

doi:10.1002/pd.3893

Cited by 53 publications

(82 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…33 Similarly, a UK study found that women who have had NIPD for fetal sex determination described safety as the most important feature of the test. 34 For many women, the miscarriage risk associated with invasive testing is a psychological barrier to diagnostic testing for Down syndrome. 27,35 If the miscarriage risk is removed, women may feel more inclined to have a test.…”

Section: Discussionmentioning

confidence: 99%

Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

Hill

Fisher²,

Chitty

et al. 2012

Genetics in Medicine

Self Cite

117

137

View full text Add to dashboard Cite

Original research articlePurpose: To compare the preferences of women and health professionals for key attributes of noninvasive prenatal diagnosis for Down syndrome relative to current invasive tests. methods:A questionnaire incorporating a discrete choice experiment was used to obtain participants' stated preference for diagnostic tests that varied according to four attributes: accuracy, time of test, risk of miscarriage, and provision of information about Down syndrome only or Down syndrome and other conditions. Women and health professionals were recruited from five maternity services in England and a patient support group. Results:Questionnaires from 335 women and 181 health professionals were analyzed. Safe tests, conducted early in pregnancy, with high accuracy and information about Down syndrome and other conditions were preferred. The key attribute affecting women's preferences for testing was no risk of miscarriage, whereas for health professionals it was accuracy.conclusions: Policies for implementing noninvasive prenatal diagnosis must consider the differences between women's and health professionals' preferences to ensure the needs of all stakeholders are met. Women's strong preference for tests with no risk of miscarriage demonstrates that consideration for safety of the fetus is paramount in decision making. Effective pretest counseling is therefore essential to ensure women understand the possible implications of results. 2012:14(11):905-913 Genet Med

show abstract

Section: Discussionmentioning

confidence: 99%

Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

Hill

Fisher²,

Chitty

et al. 2012

Genetics in Medicine

Self Cite

117

137

View full text Add to dashboard Cite

show abstract

“…Terminated fetuses have been subject to trauma, and prolonged cell-culture often results in genetic changes (Sambuy et al 2005;Li et al 2007). Other fetal material used for diagnostic purposes includes cell-free DNA in the maternal blood, which has been applied clinically for fetal Rhesus D detection and gender determination since 2001 (Lewis et al 2012;Clausen 2014;Hyland et al 2014). More recently, cell-free fetal (cff ) DNA in maternal plasma has been used to screen for fetal aneuploidies (Song et al 2013;Bianchi et al 2014).…”

mentioning

confidence: 99%

The Amniotic Fluid Transcriptome as a Guide to Understanding Fetal Disease

Zwemer

Bianchi

2015

Cold Spring Harbor Perspectives in Medicine

View full text Add to dashboard Cite

“…However, other studies have shown that women value the opportunity to discuss their screening decisions in a personalised way with an appropriately trained health professional, 34 and there is no indication that this would be different in a diagnostic testing scenario. 35,36 In addition to this point, providing only written information assumes a level of literacy in the patient. We therefore recommend that individual discussion is undertaken to enable the woman to place the information into the context of her own life and that of her family.…”

Section: Discussionmentioning

confidence: 99%

Offering prenatal diagnostic tests: European guidelines for clinical practice

et al. 2013

Self Cite

View full text Add to dashboard Cite

For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and noninvasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.

show abstract

Fetal sex determination using cell‐free fetal DNA: service users' experiences of and preferences for service delivery

Cited by 53 publications

References 25 publications

Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

The Amniotic Fluid Transcriptome as a Guide to Understanding Fetal Disease

Offering prenatal diagnostic tests: European guidelines for clinical practice

Contact Info

Product

Resources

About