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Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome.

ABSTRACT: Advanced maternal age is the only well-established risk factor for trisomy 21 Down syndrome (DS), but the basis of the maternal-age effect is not known. In a population-based, case-control study of DS, women who reported surgical removal of all or part of an ovary or congenital absence of one ovary were significantly more likely to have delivered a child with DS than were women who did not report a reduced ovarian complement (odds ratio 9.61; 95% confidence interval 1.18-446.3). Because others have observed that women who have had an ovary removed exhibit elevated levels of FSH and similar hallmarks of advanced maternal age, our finding suggests that the physiological status of the ovary is key to the maternal-age effect. In addition, it suggests that women with a reduced ovarian complement should be offered prenatal diagnosis.

SUBMITTER: Freeman SB

PROVIDER: S-EPMC1378004 | biostudies-other | 2000 May

REPOSITORIES: biostudies-other

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Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome.

Freeman S B SB Yang Q Q Allran K K Taft L F LF Sherman S L SL

American journal of human genetics 20000324 5

Advanced maternal age is the only well-established risk factor for trisomy 21 Down syndrome (DS), but the basis of the maternal-age effect is not known. In a population-based, case-control study of DS, women who reported surgical removal of all or part of an ovary or congenital absence of one ovary were significantly more likely to have delivered a child with DS than were women who did not report a reduced ovarian complement (odds ratio 9.61; 95% confidence interval 1.18-446.3). Because others h ...[more]

PMID: 10733467

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Project description:In the absence of routine ovarian cancer screening, promoting help-seeking in response to ovarian symptoms is a potential route to early diagnosis. The factors influencing women's anticipated time to presentation with potential ovarian cancer symptoms were examined.Cross-sectional questionnaires were completed by a sample of women at increased familial risk (n?=?283) and population risk (n?=?1043) for ovarian cancer. Measures included demographic characteristics, symptom knowledge, anticipated time to symptom presentation, and health beliefs (perceived susceptibility, worry, perceived threat, confidence in symptom detection, benefits and barriers to presentation). Structural equation modelling was used to identify determinants of anticipated time to symptomatic presentation in both groups.Associations between health beliefs and anticipated symptom presentation differed according to risk group. In increased risk women, high perceived susceptibility (r?=?.35***), ovarian cancer worry (r?=?.98**), perceived threat (r?=?-.18**), confidence (r?=?.16**) and perceiving more benefits than barriers to presentation (r?=?-.34**), were statistically significant in determining earlier anticipated presentation. The pattern was the same for population risk women, except ovarian cancer worry (r?=?.36) and perceived threat (r?=?-.03) were not statistically significant determinants.Associations between underlying health beliefs and anticipated presentation differed according to risk group. Women at population risk had higher symptom knowledge and anticipated presenting in shorter time frames than the increased risk sample. The cancer worry component of perceived threat was a unique predictor in the increased risk group. In increased risk women, the worry component of perceived threat may be more influential than susceptibility aspects in influencing early presentation behaviour, highlighting the need for ovarian symptom awareness interventions with tailored content to minimise cancer-related worry in this population.

Project description:In the Raloxifene Use for The Heart trial, 10 101 postmenopausal women with coronary heart disease (CHD) or multiple CHD risk factors were randomly assigned to 60 mg/d raloxifene or to placebo and followed for a median of 5.6 years. Raloxifene, a selective estrogen receptor modulator, was found to reduce the risk of invasive breast cancer and vertebral fractures but not the risk of cardiovascular events. Here, we provide further details about breast cancer incidence by tumor characteristics, duration of treatment, and subgroup.Reported breast cancer was adjudicated by an independent committee based on medical records and pathology reports. The primary analyses used Cox proportional hazards models with time to first breast cancer as the outcome. Subgroup effects were analyzed using similar models with terms for treatment by subgroup. All statistical tests were two-sided.As previously reported, raloxifene reduced the incidence of invasive breast cancer by 44% (hazard ratio [HR] = 0.56; 95% confidence interval [CI] = 0.38 to 0.83; absolute risk reduction = 1.2 invasive breast cancers per 1000 women treated for 1 year). The lower incidence of invasive breast cancer reflected a 55% lower incidence of invasive estrogen receptor (ER)-positive tumors (HR = 0.45; 95% CI = 0.28 to 0.72). However, raloxifene treatment did not reduce the incidence of noninvasive breast cancer or of invasive ER-negative breast cancer. The reduced incidence of invasive breast cancer was similar across subgroups, including those defined by age, body mass index, family history of breast cancer, prior use of postmenopausal hormones, and 5-year estimated risk of invasive breast cancer.Raloxifene reduces risk of invasive ER-positive breast cancer regardless of a woman's baseline breast cancer risk but does not reduce risk of noninvasive or ER-negative breast cancers. These results confirm those of the Multiple Outcomes of Raloxifene Evaluation, a previous randomized trial among women with osteoporosis.

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Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome.

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Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome.

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