Missed opportunities: unidentified genetic risk factors in prenatal care.

OBJECTIVE: Prenatal and preconception care guidelines recommend obtaining family history to screen for reproductive genetic risk. The effectiveness of this screening and subsequent referral for genetic counseling is not well established. This study describes how often pregnant women with reproductive genetic risks were not referred for prenatal genetic counseling and the indications frequently missed. METHOD: We retrospectively reviewed genetic consultation medical records for first-trimester screen pretest counseling. These women had no documented indications for genetic counseling. We used the American College of Medical Genetics and Genomics referral guidelines for genetic counseling to identify missed indications within the parents' personal and family histories. Patients with advanced maternal age were excluded. RESULTS: We reviewed 416 consultation notes. The counselor elicited a genetic risk for which a referral had not been made in 27% of the pregnant women. Of these, 70% were genetic risks in the family history, 23% in the couple's history, and 7% in the prenatal history. The most common missed indications were personal or family history of birth defects (38%), intellectual disability or autism (19%), and a prior positive genetic carrier screening test (14%). CONCLUSION: Genetic risk factors are not consistently identified as a referral indication for reproductive genetic counseling. © 2017 John Wiley & Sons, Ltd.

Associations of weight stigma with cortisol and oxidative stress independent of adiposity.

OBJECTIVE: Weight discrimination is associated with increased risk of obesity. The mechanism of this relationship is unknown, but being overweight is a highly stigmatized condition and may be a source of chronic stress that contributes to the development and pathophysiology of obesity. The objective of this study was to test whether weight stigma is associated with physiological risk factors linked to stress and obesity, including hypercortisolism and oxidative stress, independent of adiposity. METHOD: We examined the frequency of experiencing situations involving weight stigma and consciousness of weight stigma in relation to hypothalamic--pituitary--adrenal axis activity and oxidative stress (F2-isoprostanes) in 45 healthy overweight to obese women. RESULTS: Independent of abdominal fat, weight stigma was significantly related to measures of cortisol (including salivary measures of cortisol awakening response and serum morning levels) as well as higher levels of oxidative stress. Perceived stress mediated the relationship between weight stigma consciousness and the cortisol awakening response. CONCLUSION: These preliminary findings show that weight stigma is associated with greater biochemical stress, independent of level of adiposity. It is possible that weight stigma may contribute to poor health underlying some forms of obesity.