Environmental Factors Involved in Maternal Morbidity and Mortality.

Nongenetic, environmental factors contribute to maternal morbidity and mortality through chemical exposures via air, water, soil, food, and consumer products. Pregnancy represents a particularly sensitive window of susceptibility during which physiological changes to every major organ system increase sensitivity to chemicals that can impact a woman's long-term health. Nonchemical stressors, such as low socioeconomic status, may exacerbate the effects of chemical exposures on maternal health. Racial/ethnic minorities are exposed disproportionately to both chemicals and nonchemical stressors, which likely contribute to the observed health disparities for maternal morbidities and mortality. Epidemiological studies linking exposures to adverse maternal health outcomes underscore the importance of environmental health impacts, and mechanistic studies in model systems reveal how chemicals perturb biological pathways and processes. Environmental stressors are associated with a variety of immediate maternal health impacts, including hypertensive disorders of pregnancy, fibroids, and infertility, as well as long-term maternal health impacts, such as higher risk of breast cancer and metabolic disorders. Identifying and reducing a pregnant woman's environmental exposures is not only beneficial to her offspring but also important to preserve her short- and long-term health.

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

CONTEXT: The complexity of genetic testing in Kallmann syndrome (KS) is growing and costly. Thus, it is important to leverage the clinical evaluations of KS patients to prioritize genetic screening. OBJECTIVE: The objective of the study was to determine which reproductive and nonreproductive phenotypes of KS subjects have implications for specific gene mutations. SUBJECTS: Two hundred nineteen KS patients were studied: 151 with identified rare sequence variants (RSVs) in 8 genes known to cause KS (KAL1, NELF, CHD7, HS6ST1, FGF8/FGFR1, or PROK2/PROKR2) and 68 KS subjects who remain RSV negative for all 8 genes. MAIN OUTCOME MEASURES: Reproductive and nonreproductive phenotypes within each genetic group were measured. RESULTS: Male KS subjects with KAL1 RSVs displayed the most severe reproductive phenotype with testicular volumes (TVs) at presentation of 1.5 ± 0.1 mL vs 3.7 ± 0.3 mL, P < .05 vs all non-KAL1 probands. In both sexes, synkinesia was enriched but not unique to patients with KAL1 RSVs compared with KAL1-negative probands (43% vs 12%; P < .05). Similarly, dental agenesis and digital bone abnormalities were enriched in patients with RSVs in the FGF8/FGFR1 signaling pathway compared with all other gene groups combined (39% vs 4% and 23% vs 0%; P < .05, respectively). Hearing loss marked the probands with CHD7 RSVs (40% vs 13% in non-CHD7 probands; P < .05). Renal agenesis and cleft lip/palate did not emerge as statistically significant phenotypic predictors. CONCLUSIONS: Certain clinical features in men and women are highly associated with genetic causes of KS. Synkinesia (KAL1), dental agenesis (FGF8/FGFR1), digital bony abnormalities (FGF8/FGFR1), and hearing loss (CHD7) can be useful for prioritizing genetic screening.

Psychosocial risks associated with multiple births resulting from assisted reproduction.

OBJECTIVE: To determine if increased psychosocial risks are associated with each increase in birth multiplicity (i.e., singleton, twin, triplet) resulting from assisted reproduction. DESIGN: Stratified random sample (n = 249). SETTING: An academic teaching hospital and private practice infertility center. PATIENT(S): Mothers raising 1- to 4-year-old children (n = 128 singletons, n = 111 twins, and n = 10 triplets) conceived through assisted reproduction. INTERVENTION(S): Self-administered, mailed survey. MAIN OUTCOME MEASURE(S): Scales measuring material needs, quality of life, social stigma, depression, stress, and marital satisfaction. RESULT(S): Using multivariate logistic regression models, for each additional multiple birth child, the odds of having difficulty meeting basic material needs more than tripled and the odds of lower quality of life and increased social stigma more than doubled. Each increase in multiplicity was also associated with increased risks of maternal depression. CONCLUSION(S): To increase patients' informed decision-making, assisted reproduction providers might consider incorporating a discussion of these risks with all patients before they begin fertility treatment, and holding the discussion again if the treatment results in a multiple gestation. These data may also help providers to identify appropriate counseling, depression screening, and supports for patients with multiple births.

Social stigma and compounded losses: quality-of-life issues for multiple-birth families.

OBJECTIVE: To determine the quality-of-life domains most impacted by multiple births. DESIGN: Focus groups, qualitative research. SETTING: Human volunteers in a medical research environment.Forty-three mothers, 29 raising multiple-birth children, 13 raising singletons, identified from random and convenience samples. INTERVENTION: None. MAIN OUTCOME MEASURE(S): Maternal self-reports of the psychosocial sequelae of multiple or singleton births, based on qualitative data analysis of transcribed group discussions. RESULT(S): The quality-of-life domains that were most impacted by raising multiple birth children were social stigma, pregnancy loss, marital satisfaction, children's health, unmet family needs, parenting stress, maternal depression, and the infertility experience. CONCLUSION(S): Qualitative methods identified two novel quality-of-life domains in iatrogenic multiple birth families: social stigma and compounded losses. An unexpected finding was the potential for increased marital solidification as parents coped with the inordinate stresses of multiple births. As anticipated, children's health, unmet family needs, maternal depression, and parental stress were key areas of concern. In addition, the infertility experience had a lasting impact. These findings are significant, given that at least 38% of all assisted conceptions result in a multiple birth. This study lays the groundwork for further research on the impact of iatrogenic multiple births.

Vasomotor symptoms are associated with depression in perimenopausal women seeking primary care.

OBJECTIVE: To compare the relationship between vasomotor symptoms (hot flushes and night sweats) and depression in perimenopausal women with that in postmenopausal and older premenopausal women. DESIGN: Questionnaire data assessing current depressive symptoms (Center for Epidemiologic Studies Depression Scale), hot flushes, night sweats, menopausal status, depression history, hormonal therapy use, and demographic characteristics were collected from women aged 40 to 60 years seeking primary care. Multivariable logistic regression models were used to examine the relationship between vasomotor symptoms and depression. RESULTS: Depression (defined by a Center for Epidemiologic Studies Depression Scale score >/= 25) was observed in 14.9% of 141 perimenopausal women, 13.9% of 151 postmenopausal women, and 7.6% of 184 older premenopausal women. Recent vasomotor symptoms were reported by 53.9% of perimenopausal women, 43.7% of postmenopausal women, and 20.7% of older premenopausal women. Perimenopausal women with vasomotor symptoms were 4.39 times more likely to be depressed than those without vasomotor symptoms (95% CI, 1.40-13.83), an association that did not change after controlling for depression history. In contrast with perimenopausal women, postmenopausal and older premenopausal women with vasomotor symptoms did not have a significantly greater risk for depression than women of the same menopausal status without vasomotor symptoms (adjusted odds ratios, 1.28 and 1.77; 95% CI, 0.47-3.46 and 0.53-5.89, respectively). CONCLUSIONS: Hot flushes and night sweats are associated with depression in perimenopausal women. Further investigation is warranted to elucidate the mechanism by which hot flushes may be associated with depression in perimenopausal women and not in postmenopausal or older premenopausal women.