Pre-implantation genetic testing: decisional factors to accept or decline among in vitro fertilization patients.

PURPOSE: Embryo testing to improve pregnancy outcomes among individuals who are seeking assisted reproduction technologies is increasing. The purpose of this study was to assess decisional factors through in-depth interviews for why women would accept or decline preimplantation genetic testing for aneuploidy (PGT-A) with in vitro fertilization (IVF). METHODS: Semi-structured telephone interviews were conducted with 37 women who were offered PGT-A with IVF during the summer 2017. Interviews lasted on average 40 min and were audio-recorded, transcribed, and analyzed using a content analysis. RESULTS: Results identified a number of decisional factors related to values about conception, disability, and pregnancy termination, past pregnancy experiences, optimism toward technology, and cost. Other key issues that were identified include the use of expanded carrier screening prior to IVF, maternal age, and limited education about PGT-A due to the complexity about education for IVF alone. CONCLUSION: There is a need to develop decision support tools for the increasing choices of genetic testing options for patients seeking IVF. Including patients' values, past pregnancy experiences and attitudes toward science into the decision-making process may help promote a more informed decision.

Experiences among Women with Positive Prenatal Expanded Carrier Screening Results.

The offering and acceptance of expanded carrier screening is increasing among pregnant women including women without an increased risk based on race, ethnicity or family history. The chances of a positive screening test have been reported to be as high as 24 % when multiple conditions are screened. Yet, little is known about the way these tests are offered and how patients are affected by a positive test result. To explore this area of genetic testing, interviews (n = 17) were conducted among women who received positive expanded carrier results in the context of obstetric care. A content analysis was conducted on the transcript data from the interviews. Outcomes of this research suggest that educational interventions are needed to improve maternal understanding of positive carrier screening results. Most of the participants in this study confused the results with other prenatal screening test options. In addition, the way the results were discussed varied greatly, and influenced participants' thoughts about reproductive decisions that led to a range of emotional uncertainty. Our data suggests that genetic counseling improved participants' understanding of positive results. More research is needed to further understand if our results are consistent within a larger, more diverse sample, and to explore how to best provide education about expanded carrier screening.

Screening children with neurofibromatosis type 1 for autism spectrum disorder.

Autism spectrum disorder (ASD) is reported to be increased in neurofibromatosis type 1 (NF1), but it's unknown if ASD screening tools are sensitive and specific for NF1. This study compared the rate at which children with NF1 screen-positive for two ASD screening tools [Modified Checklist for Autism in Toddlers (M-CHAT) and Childhood Autism Spectrum Test (CAST)] to the screen-positive rate of the general population. A retrospective cross-sectional observational design to investigate the association between children with NF1 and at risk status for ASD was used. Medical records of children between 16 months and 11 years of age seen in an NF Clinic were reviewed for an ASD screening questionnaire. There were no statistically significant differences in the screen-positive rate for ASD in NF1 compared to published controls, but mean CAST scores were higher in NF1.

Characterization of a transient TCF/LEF-responsive progenitor population in the embryonic mouse retina.

PURPOSE: High mobility group (HMG) transcription factors of the T-cell-specific transcription factor/lymphoid enhancer binding factor (TCF/LEF) family are a class of intrinsic regulators that are dynamically expressed in the embryonic mouse retina. Activation of TCF/LEFs is a hallmark of the Wnt/beta-catenin pathway; however, the requirement for Wnt/beta-catenin and noncanonical Wnt signaling during mammalian retinal development remains unclear. The goal of the study was to characterize more fully a TCF/LEF-responsive retinal progenitor population in the mouse embryo and to correlate this with Wnt/beta-catenin signaling. METHODS: TCF/LEF activation was analyzed in the TOPgal (TCF optimal promoter) reporter mouse at embryonic ages and compared to Axin2 mRNA expression, an endogenous readout of Wnt/beta-catenin signaling. Reporter expression was also examined in embryos with a retina-specific deletion of the beta-catenin gene (Ctnnb1), using Six3-Cre transgenic mice. Finally, the extent to which TOPgal cells coexpress cell cycle proteins, basic helix-loop-helix (bHLH) transcription factors, and other retinal cell markers was tested by double immunohistochemistry. RESULTS: TOPgal reporter activation occurred transiently in a subpopulation of embryonic retinal progenitor cells. Axin2 was not expressed in the central retina, and TOPgal reporter expression persisted in the absence of beta-catenin. Although a proportion of TOPgal-labeled cells were proliferative, most coexpressed the cyclin-dependent kinase inhibitor p27/Kip1. CONCLUSIONS: TOPgal cells give rise to the four earliest cell types: ganglion, amacrine, horizontal, and photoreceptor. TCF/LEF activation in the central retina does not correlate with Wnt/beta-catenin signaling, pointing to an alternate role for this transcription factor family during retinal development.