Prenatal Testing For Down Syndrome Research Articles

A Disability Critique of the New Prenatal Test for Down Syndrome

This article presents evidence that the availability of a new noninvasive test for Down syndrome (known as "MaterniT21") could result in increased uptake of prenatal testing for Down syndrome and an increase in selective abortions of affected fetuses. I argue that people with Down syndrome and those sympathetic to them have reason to object to these developments because bias against cognitive disability is an influence on decisions to test and terminate for Down syndrome, and social practices motivated by bias are objectionable. The article addresses many of the challenges to the disability critique formulated by its detractors. I discuss whether the disability critique is the same as the "expressivist" objection to prenatal testing, the nature of the harm experienced by people with Down syndrome, and the link between prenatal testing and this harm.

P05.09: Factors affecting women's knowledge about non‐invasive prenatal testing for Down syndrome

<scp>P05</scp>.09: Factors affecting women's knowledge about non‐invasive prenatal testing for Down syndrome

P05.07: Impact of introduction of non‐invasive prenatal testing in private on the uptake of prenatal testing for Down syndrome in a public hospital

<scp>P05</scp>.07: Impact of introduction of non‐invasive prenatal testing in private on the uptake of prenatal testing for Down syndrome in a public hospital

Prenatal Tests for Down Syndrome

Prenatal Tests for Down Syndrome

A Personal Experience of Prenatal Testing for Down Syndrome

This narrative symposium examines the relationship of bioethics practice to personal experiences of illness. A call for stories was developed by Tod Chambers, the symposium editor, and editorial staff and was sent to several commonly used bioethics listservs and posted on the Narrative Inquiry in Bioethics website. The call asked authors to relate a personal story of being ill or caring for a person who is ill, and to describe how this affected how they think about bioethical questions and the practice of medicine. Eighteen individuals were invited to submit full stories based on review of their proposals. Twelve stories are published in this symposium, and six supplemental stories are published online only through Project MUSE. Authors explore themes of vulnerability, suffering, communication, voluntariness, cultural barriers, and flaws in local healthcare systems through stories about their own illnesses or about caring for children, partners, parents and grandparents. Commentary articles by Arthur Frank, Bradley Lewis, and Carol Taylor follow the collection of personal narratives.

Women’s and Health Professionals’ Preferences for Prenatal Tests for Down Syndrome

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

PurposeTo compare the preferences of women and health professionals for key attributes of noninvasive prenatal diagnosis for Down syndrome relative to current invasive tests. MethodsA 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. ResultsQuestionnaires 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. ConclusionsPolicies 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.Genet Med 2012:14(11):905–913

OP02.07: Trend in uptakes of prenatal testing for Down syndrome

OP02.07: Trend in uptakes of prenatal testing for Down syndrome

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations

Studies on prenatal testing for Down syndrome (trisomy 21), trisomy 18, and trisomy 13 by massively parallel shotgun sequencing (MPSS) of circulating cell free DNA have been, for the most part, limited to singleton pregnancies. If MPSS testing is offered clinically, it is important to know if these trisomies will also be identified in multiple pregnancies. Among a cohort of 4664 high-risk pregnancies, maternal plasma samples were tested from 25 twin pregnancies (17 euploid, five discordant and two concordant for Down syndrome; one discordant for trisomy 13) and two euploid triplet pregnancies [Correction made here after initial online publication.]. Results were corrected for GC content bias. For each target chromosome (21, 18, and 13), z-scores of 3 or higher were considered consistent with trisomy. Seven twin pregnancies with Down syndrome, one with trisomy 13, and all 17 twin euploid pregnancies were correctly classified [detection rate 100%, 95% confidence interval (CI) 59%-100%, false positive rate 0%, 95% CI 0%-19.5%], as were the two triplet euploid pregnancies. Although study size is limited, the underlying biology combined with the present data provide evidence that MPSS testing can be reliably used as a secondary screening test for Down syndrome in women with high-risk twin gestations.

Prenatal testing for Down syndrome: The perspectives of parents of individuals with Down syndrome

This exploratory, descriptive study examined the views and opinions of parents of individuals with Down syndrome (DS) related to prenatal testing for DS and the use of age-based criteria to determine eligibility for this testing. This survey-based study was designed in collaboration with parents of individuals with DS and the British Columbia-based Lower Mainland Down Syndrome Society (LMDSS). The survey was a 26-item, self-report questionnaire, which was distributed by the LMDSS. Out of the 246 potentially eligible individuals that were mailed surveys, 101 participants returned their completed surveys. The availability of prenatal screening and diagnostic testing for DS was perceived positively by 55.1% and 64.7% of parents, respectively. More than half (60.2%) of participants felt that prenatal diagnostic testing for DS should be available to all pregnant women, regardless of age. In this study, views of Canadian parents of individuals with DS aligned with the prenatal testing policy recently adopted in the USA (whereby any woman, regardless of age or risk factors, can opt for prenatal diagnostic testing) rather than with new Canadian policy (whereby eligibility for diagnostic testing is no longer offered on the basis of age, but on the basis of other risk factors).

Noninvasive prenatal tests for Down syndrome are near

Noninvasive prenatal tests for Down syndrome are near

Prenatal testing for intellectual disability: Misperceptions and reality with lessons from down syndrome

Down syndrome is the most common cause of intellectual disability. In the United States, it is recommended that prenatal testing for Down syndrome be offered to all women. Because of this policy and consequent public perception, having Down syndrome has become a disadvantage in the prenatal period. However, in the postnatal period, there may be some advantage in having Down syndrome. To help parents make informed decisions about screening and testing, it is crucial to reconcile divergent prenatal and postnatal perspectives. Advancements in genetic technologies will also impact the informed consent process and need to be considered.

Prenatal Testing for Down Syndrome: Comparison of Screening Practices in the UK and USA

Prenatal testing for Down Syndrome is a topic covered in every genetic counselor's training as it constitutes the main workload of genetic counselors in prenatal settings. Most Western countries nowadays offer some type of testing for Down Syndrome. However, practices vary according to country with regards to what tests are offered, insurance coverage and the legal situation concerning the option of terminating an affected pregnancy. In view of the growing interest in international genetic counseling issues, this article aims to compare prenatal testing practices in two English-speaking countries: the United Kingdom and the United States of America. A case will be presented to highlight some of the differences in practice. The topic underlines important implications for genetic counseling practice, such as patients' understanding of testing practices, risk perception, counseling provision and impact of prenatal testing results.

Decisional needs assessment regarding Down syndrome prenatal testing: a systematic review of the perceptions of women, their partners and health professionals

To identify decisional needs of women, their partners and health professionals regarding prenatal testing for Down syndrome through a systematic review. Articles reporting original data from real clinical situations on sources of difficulty and/or ease in making decisions regarding prenatal testing for Down syndrome were selected. Data were extracted using a taxonomy adapted from the Ottawa Decision-Support Framework and the quality of the studies was assessed using Qualsyst validated tools. In all 40 publications covering 32 unique studies were included. The majority concerned women. The most often reported sources of difficulty for decision-making in women were pressure from others, emotions and lack of information; in partners, emotion; in health professionals, lack of information, length of consultation, and personal values. The most important sources of ease were, in women, personal values, understanding and confidence in the medical system; in partners, personal values, information from external sources, and income; in health professionals, peer support and scientific meetings. Interventions regarding a decision about prenatal testing for Down syndrome should address many decisional needs, which may indeed vary among the parties involved, whether women, their partners or health professionals. Very little is known about the decisional needs of partners and health professionals.

Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome: preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Trade-off questionnaires. Two university centers for reproductive medicine. Two hundred forty-four subfertile women. Scenarios with different pregnancy chances after PGS and with different risk reductions of a Down syndrome pregnancy were presented. Willingness to have PGS performed in the various scenarios. In case PGS would discover all Down syndrome embryos without affecting pregnancy chances, 83% of the women would have PGS performed. If PGS lowered pregnancy chances from one in five to one in seven, 36% of the women preferred to have PGS performed. If PGS reduced the chance of a Down syndrome pregnancy with 80% without affecting pregnancy chances, 75% of the women would have PGS performed, and 31% of them would refrain from prenatal testing afterward. Most women favor PGS for Down syndrome screening, even if it is not 100% sensitive. The acceptability depends on the effect PGS has on pregnancy chances, and, to a lower extent on its sensitivity to detect Down syndrome embryos.

P-933: Preimplantation genetic screening as an alternative to prenatal screening for down syndrome: Preferences of women undergoing IVF/ICSI treatment

Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/ICSI, it has been suggested that it may also be used as an alternative to prenatal screening for Down syndrome. However, PGS might not be able to prevent all aneuploid pregnancies, mainly due to mosaicism. Furthermore, biopsy of one or more blastomeres might reduce pregnancy rates. We assessed women’s attitudes towards PGS as an alternative to prenatal screening. Trade-off questionnaires Between May and December 2005 questionnaires were handed out to women in the stimulation phase of an IVF/ICSI cycle in two academic hospitals in the Netherlands. First, information on all forms of prenatal testing was provided and women were asked whether they would consider prenatal testing for Down syndrome if they were pregnant. Subsequently, information on PGS as a possible alternative was provided followed by three scenarios that differed in pregnancy chances achieved after PGS and in sensitivity of PGS in detecting Down syndrome embryos. In the first scenario PGS prevented all Down syndrome pregnancies, without any negative effect on pregnancy chances. In the second scenario PGS prevented all Down syndrome pregnancies, but lowered pregnancy chances from 1/5 to 1/7 per IVF cycle. In the third scenario PGS lowered the chance of having a child with Down syndrome from 1/ 200 to 1/1000, without having any negative effect on pregnancy chances. After each scenario women were asked whether they would choose to have PGS performed in that particular situation. Differences between groups in frequencies were analyzed with logistic regression analysis. A total of 343 questionnaires were handed out, of which 244 were returned (71%). In case PGS discovered all Down syndrome embryos without affecting pregnancy chances, 83% of the women would have PGS performed. If PGS lowered pregnancy chances from 1/5 to 1/7, 36% of the women preferred to have PGS. Women who had already undergone one or more IVF treatments in the past were significantly less inclined to accept a negative effect on their pregnancy chance (OR 0.45, 95% CI 0.24-0.85). There were no significant differences between age groups (above or below 36 years) and women with and without children. If PGS reduced the chance of a Down syndrome pregnancy with 80% without affecting pregnancy chances, 75% of the women would have PGS performed, and 31% of them would refrain from subsequent prenatal testing. Seventy-two women (30%) would not choose to have any form of prenatal testing for Down syndrome in case of a pregnancy. Interestingly, 58% of them was willing to have PGS performed if PGS would not negatively affect pregnancy chances. The reason for this seems to be that with PGS a woman does not have to decide about termination of her pregnancy. Most women have a positive attitude towards PGS as an alternative to prenatal testing for Down syndrome, even if PGS is not 100% sensitive. Furthermore, PGS is acceptable to more than half of the women to whom prenatal testing is not acceptable. The acceptability of PGS depends largely on the effect it might have on pregnancy chances, and to a lower extend on its sensitivity to detect Down syndrome embryos.

Women's and health professionals’ preferences for prenatal testing for Down syndrome in Australia

To describe and compare women's and health professionals' preferences for prenatal screening tests for Down syndrome. Cross-sectional questionnaire survey. Women (n = 322) attending for a glucose challenge test at 26 weeks gestation and health professionals (266 midwives and 34 obstetricians) at the Royal Women's Hospital, Melbourne, between 13 December 2002 and 30 April 2003. The relative value participants attach to attributes of Down syndrome screening tests as determined by conjoint analysis and ranking scales. Women and health professionals shared similar relative values regarding the importance of detection rate of screening tests, according to coefficients from conjoint analysis models. However, health professionals placed higher relative values on timing of prenatal tests and risk associated with the subsequent diagnostic test than did women. Comparison of coefficients suggests that, compared with health professionals, women would wait longer and accept a greater decrease in detection rate for a test if it was safer. Using the more traditional ranking scale, the safest test was ranked first by 56% of women while 47% of health professionals ranked a test with the highest detection rate first. Equal proportions ( approximately 10%) in both groups ranked the earliest test first. There is a general agreement between pregnant women and health professionals regarding the relative importance they attach to different attributes of a test. However, health professionals appeared to favour earlier timing of tests while women placed greater emphasis on safety. Utilising two different measures of preference demonstrated the complexity of decision-making.

Technical standards and guidelines: Prenatal screening for Down syndrome: This new section on “Prenatal Screening for Down Syndrome,” together with the new section on “Prenatal Screening for Open Neural Tube Defects,” replaces the previous Section H of the American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories

Technical standards and guidelines: Prenatal screening for Down syndrome: This new section on “Prenatal Screening for Down Syndrome,” together with the new section on “Prenatal Screening for Open Neural Tube Defects,” replaces the previous Section H of the American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories *

Communicating risk in prenatal genetic testing

Prenatal testing for Down syndrome and neural tube defects has become routine, and testing for other genetic conditions is becoming commonplace. Counseling about these tests involves a discussion of risk information, so pregnant women and their partners can use the information effectively when they make choices about testing. Discussing risk can be challenging, as many individuals, particularly those of lower literacy, have a poor understanding of the numerical concept of risk. Furthermore, whether risk is comprehended accurately or not, it is interpreted by patients in light of their existing knowledge and past experiences. Strategies available to optimize understanding of risk include communication of risk figures as frequencies rather than as probabilities or percentages and explicit discussion of a woman’s preconceptions about her risk and about the condition being tested for.