Logan B. Karns

Elevated Prevalence of 35-44 FMR1 Trinucleotide Repeats in Women With Diminished Ovarian Reserve

Introduction: Fragile X premutations are associated with primary ovarian insufficiency when the patient presents with amenorrhea, but the fragile X mental retardation 1 (FMR1) CGG repeat count among cycling women with low ovarian reserve (diminished ovarian reserve [DOR]) is not yet established. Patients and Methods: Sixty-two infertile DOR patients were recruited from 4 US private and academic fertility centers. Results: The prevalence of 35-44 FMR1 CGG repeats was 14.5%. Compared with the general female population estimate from the literature, infertile women with DOR were more likely to have 35-44 FMR1 CGG repeats (14.5% and 3.9%, respectively, P = .0003). Similar findings were noted by 5-repeat bandwidth: 35-39 CGG repeats (9.7% DOR vs 3.2% comparison, P = .012) or 40-44 CGG repeats (4.8% DOR vs 0.7% comparison, P = .024). Conclusions: These data suggest that CGG repeats of 35-44 may be markedly overrepresented in women with DOR, whereas the current FMR1 reference range indicates that there is no clinical phenotype with <45 CGG repeats.

Code of Ethics of the National Society of Genetic Counselors: Explication of Revisions

The Code of Ethics (COE) of the National Society of Genetic Counselors (NSGC) was adopted in 1992. In 2004, the NSGC leadership appointed the Code of Ethics Work Group (COEWG) to consider revisions to the NSGC COE based on advice from the NSGC legal counsel, and to consider additional changes given growth in the scope of genetic counseling practice since the adoption of the original COE. After input from the NSGC membership, changes to the COE addressing the recommendations of the NSGC legal counsel were approved in December 2004. The COEWG then reviewed ethical codes and codes of professional conduct from 22 professional organizations, deemed to have similar goals and philosophies to the NSGC, searching for themes that encompassed genetic counseling practice that might not yet be addressed in the NSGC COE. Additional revisions to the COE were proposed, and after feedback from the NSGC membership, the revised COE was approved in January 2006 by majority vote of full members of the NSGC. The explications for the 2004 and 2006 revisions are presented.