Allyse, Megan

INTRODUCTION: Clinical trials for fetal surgery and gene therapy interventions in fetuses identified as having trisomy 21 (Down syndrome) have shown increasing success in human and animal models. These interventions vary from physical intercessions, such as cardiac repairs, to attempts at cognitive improvement, including retention and learning ability. However, these interventions have been controversial among family members and individuals living with Down syndrome. In particular, community members have argued that attempts to intervene in the natural progression of Down syndrome contravene efforts to encourage acceptance and support of individuals with Down syndrome. METHODS: We conducted a nation-wide, online survey of parents of individuals with Down syndrome about their opinions and willingness to accept prenatal interventions in pregnancies with Down syndrome. RESULTS: Parents were sharply divided on the acceptability of fetal interventions in pregnancies with Down syndrome. Parents expressed conflicts between the desire to give children every possible opportunity and the need and willingness to accept their children as they were and as complete individuals in their own right. A significant percentage reported that they would refuse prenatal gene therapy for potential cognitive intervention in pregnancies with Down syndrome. CONCLUSION: Significant investment is ongoing in the detection of and intervention in pregnancies affected by aneuploidies such as Down syndrome. This study emphasizes the need to include broader stakeholder populations, including families of existing individuals, in the development and translation of such therapies. Significant rejection from patient advocate populations may result from a lack of engagement.

AbstractRecently, practices have begun integrating cell‐free DNA‐based noninvasive prenatal screening as a screening option for a variety of genetic conditions. According to the National Society of Genetic Counselors, the integration of cfDNA screening into clinical prenatal practice may “significantly shift the paradigm of prenatal testing and screening for all women.” The purpose of this study was to determine whether group information sessions can feasibly serve as an alternative to extended one‐on‐one genetic counseling for the increasing number of women making decisions about prenatal testing and screening. This study assessed the effect of group genetic information sessions coupled with abbreviated counseling on pregnant women's knowledge about and attitudes toward prenatal testing and screening.

INTRODUCTION: Non-invasive prenatal testing (NIPT) panels have expanded rapidly from limited aneuploidy screening for trisomy 21 to expanded screening for aneuploidies and abnormalities, including sex chromosome aneuploidies and, recently, microdeletions. This study sought to understand the experiences of women receiving NIPT results and the effect of high-risk, false, or inconclusive results on maternal anxiety and pursuit of additional testing. METHODS: 40 semi-structured telephone interviews were conducted with women who were currently or had recently been pregnant and received high risk (n=15), false positive/negative (n=19), or inconclusive (n=5) results from NIPT. RESULTS: Many women felt deceived by the advertised “99% accuracy” statistic of NIPT and asserted that much of their post-test anxiety could have been prevented by improved pre-test counseling. Several women felt pressured by providers to terminate, and most felt pressured to pursue invasive diagnostic testing. False results from NIPT had significant lasting effects the remainder of their pregnancies, their willingness to have more children, and their openness to doing NIPT again. Most women would not do NIPT in future pregnancies or would only do it if the panel was smaller. CONCLUSION: Findings suggest significant concerns about how clinical practices are integrating NIPT. Study participants indicate problems with the dialogue when NIPT is offered, the return of results, and the positive predictive value of expanded screenings. Given the confusion about NIPT accuracy, the prevalence of follow-up invasive tests, and the large number of women who regret doing NIPT, NIPT offering and the delivery of results need to be carefully approached.

INTRODUCTION: The recent live births of five babies after elective uterine transplantation from a live donor has demonstrated one possible mechanism to address absolute uterine factor infertility. However, national and cultural factors contributed to the ethical and medical permissibility of uterine transplant in the Swedish context. These factors may be different in other socio-national contexts. We sought to understand the potential permissibility of the procedure in the US context. METHODS: We conducted an ethical analysis of the potential practice of elective reproductive uterine transplantation in the US from a perspective of women's health and rights. RESULTS: Relevant vectors of analysis include alternative paths to parenthood, considerations of baseline status versus enhancement, reproductive rights, feminist critiques, allocation of healthcare resources, and the balance of risk and benefit. Compelling arguments are made on both sides of the deliberation under all vectors. CONCLUSION: On balance, arguments for or against elective uterine transplant in the US context appeared to balance. However, the most compelling factors that must be addressed in order to justify the procedure include the absence of alternatives, the risk to donors and recipients, and the healthcare opportunity costs.