Use of human-derived stem cells to create a novel, in vitro model designed to explore FMR1 CGG repeat instability amongst female premutation carriers.

Objective: Create a model, using reprogrammed cells, to provide a platform to identify the mechanisms of CGG repeat instability amongst female fragile X mental retardation 1 gene (FMR1) premutation (PM) carriers.

Methods: Female PM carriers (with and without POI) and healthy controls were enrolled from June 2013 to April 2014. Patient-derived fibroblasts (FB) were reprogrammed to induced pluripotent stem cells (iPSC) using viral vectors, encoding KLF4, OCT4, SOX2, and MYC.

Evidence of an age-related correlation of ovarian reserve and FMR1 repeat number among women with "normal" CGG repeat status.

Purpose: The objective of this analysis is to examine the relationship between Fragile X Mental Retardation 1 gene (FMR1) cytosine-guanine-guanine (CGG) repeat number and ovarian reserve, with a particular focus exclusively on the range of CGG repeat number below the premutation (PM) range (<55 CGG repeats).

Methods: Our study included female patients who underwent assessment of FMR1 CGG repeat number and serum anti-Mullerian hormone (AMH) in 2009-2014. To examine the association between FMR1 repeat number and serum AMH, we created three summary measures of CGG repeat number for the two alleles-"Sum," "Max," and "Gap" (absolute difference).

Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens.

Objective: To examine the rate of maternal contamination in miscarriage specimens.

Design: Retrospective review of 1,222 miscarriage specimens submitted for chromosome testing with detection of maternal cell contamination (MCC).

Setting: Referral centers requesting genetic testing of miscarriage specimens at a single reference laboratory.

Pregnancy During Recovery from Hematopoietic Stem Cell Transplant for Mycosis Fungoides.

We report a case of spontaneous pregnancy with subsequent full-term live birth following hematopoietic stem cell transplantation (HSCT) for mycosis fungoides in a 24-year-old nulligravida with 4 years of prior infertility due to primary ovarian insufficiency. Four months post-transplant, the patient was found to be 10 weeks pregnant. Her pregnancy was complicated by first trimester fetal exposure to mycophenolate mofetil (pregnancy category D), delayed-onset acute gastrointestinal graft-versus-host disease, and multiple systemic infections.

Early pregnancy testosterone after ovarian stimulation and pregnancy outcome.

Objective: To examine early pregnancy (EP) testosterone (T) after ovarian stimulation and its effect on singleton pregnancy outcomes.

Design: Prospective cohort study.

Setting: University-based tertiary care center.