期刊
PRENATAL DIAGNOSIS
卷 34, 期 1, 页码 71-74出版社
WILEY-BLACKWELL
DOI: 10.1002/pd.4257
关键词
-
资金
- Italian Ministerial Research [12 e 12 bis del D. Lgs 502/92]
ObjectiveThe objective of this study is to evaluate genetic risks already present before pregnancy in a cohort of pregnant women referred for prenatal genetic counseling exclusively for advanced maternal age (AMA). MethodWe retrospectively reviewed the records of 1353 women referred over 1year (2010) for pre-test genetic counseling with the only indication of AMA at three Italian Clinical Genetic Services. ResultsOf the 1353 women fulfilling the inclusion criteria of the study, 87 (6.4%) had cumulatively 94 genetic risk factors not previously identified (one risk factor in 80 patients and two risk factors in seven). Twenty-six risk factors (27.7%) concerned heterogeneous or multifactorial conditions and 68 (72.3%) Mendelian or chromosomal disorders and consanguinity. In nine out of these 87 women, the estimated risk for the offspring of a genetic disease or a significant structural anomaly was >5%. Additional testing according to the identified risks was performed in 36 of these 87 women/families. ConclusionsThe proportion of cases with additional risk factors is smaller than reported in previous studies, but it remains substantial and confirms the need for strategies to increase awareness of the public and health professionals responsible for the care of women in childbearing age. (c) 2013 John Wiley & Sons, Ltd.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据