Best practices: antenatal screening for common genetic conditions other than aneuploidy.

PURPOSE OF REVIEW: Carrier screening aims to identify asymptomatic heterozygotes of heritable disorders and has a vital, ever-changing role in its application to the prenatal detection of disease. An explosion of new technologies for the identification of single-gene disorders challenges our ability to evaluate each individual test prior to its introduction into the private and public sectors. RECENT FINDINGS: The efficacy of carrier screening is dependent on several factors including the validity of the test, the incidence of disease within the community, and as many genetic disorders segregate along ethnic and racial lines, which populations should be offered testing. The difficulties in evaluating prenatal screening programs are highlighted by the recent conflicting recommendations from the American College of Medical Genetics and the American Congress of Obstetrics and Gynecology over several single-gene disorders. In addition, changes in the recommendation for universal versus risk-based screening for ethnically segregated disorders remain controversial. These conflicts have major impacts in the provision of genetic counseling in the prenatal outpatient setting. SUMMARY: We will evaluate current and proposed screening protocols for several single-gene disorders, and comment on universal versus ethnic-based screening. Our objective is to develop guidelines for genetic screening in the antenatal outpatient setting.

Cardiovascular risk factor variation within a Hispanic cohort: SWAN, the Study of Women's Health Across the Nation.

OBJECTIVES: Hispanics have less favorable cardiovascular risk profiles relative to other groups, although little is known regarding variability in risk profiles according to country of origin. Our goal was to examine the association of cardiovascular risk factors with country of origin and acculturation in a cohort of middle-aged Hispanic women. SETTING: Baseline data for participants at the New Jersey Site of the Study of Women's Health Across the Nation (SWAN). PARTICIPANTS: 419 women, aged 42-52 years, comprising 142 non-Hispanic Whites and 277 Hispanic: Central American (n = 29), South American (n = 106), Puerto Rican (n = 56), Dominican (n = 42) and Cuban (n = 44). MAIN OUTCOME MEASURES: BMI, smoking, blood pressure, lipid profiles, and presence of hypertension, hyperlipidemia, diabetes and metabolic syndrome were compared using univariate and multivariable models. RESULTS: LDL and HDL varied significantly across Hispanic subgroups (overall P < or = .05). Prevalence of metabolic syndrome was greatest in Puerto Rican women (48.2% vs 40.0%, 35.0%, 13.9% and 29.3% in Central American, South American, Dominican and Cuban women, respectively, P = .016). Central American women were least likely to smoke (P < .05 vs Puerto Rican, Cuban and South American). Prevalence of hypertension and diabetes were similar across groups. Differences in lipids and metabolic syndrome were not explained by acculturation, financial strain, education, physical activity, smoking or dietary fat intake. CONCLUSIONS: There is significant heterogeneity in cardiovascular risk status among middle-aged Puerto Rican, Cuban, Dominican, Central American and South American women, not explained by acculturation or socioeconomic indicators. These differences may be important for targeting screening and preventive interventions.

Duration of lactation is associated with lower prevalence of the metabolic syndrome in midlife--SWAN, the study of women's health across the nation.

OBJECTIVE: The objective of the study was to evaluate whether lactation duration is associated with lower prevalence of metabolic syndrome (MetSyn) in midlife, parous women. STUDY DESIGN: This was a cross-sectional cohort analysis of 2516 parous, midlife women using multivariable logistic regression to determine the independent association of lactation and lactation duration on prevalence of MetSyn. RESULTS: One thousand six hundred twenty women (64.4%) reported a history of breast-feeding, with average lifetime duration of lactation of 1.16 (+/- 1.04) years. MetSyn was present in 536 women (21.3%). Adjusting for age, smoking history, parity, ethnicity, socioeconomic status, study site, physical activity, caloric intake, and high school body mass index, women with prior lactation had significantly lower odds of MetSyn (odds ratio [OR] 0.79, 95% confidence interval [CI] 0.63 to 0.99). Furthermore, increasing duration of lactation was similarly associated with lower odds of MetSyn (OR 0.88, 95% CI 0.77 to 0.99). CONCLUSION: Duration of lactation is associated with lower prevalence of MetSyn in a dose-response manner in midlife, parous women.