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.

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.

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.

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.