Pompilii E, Astolfi G, Calabrese O, Calzolari E, Ferlini A, Lucci M, Parmeggiani G, Seri M, Baroncini A
Prenat Diagn. 2014 Jan;34(1):71-4. doi: 10.1002/pd.4257.
The 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).
We retrospectively reviewed the records of 1353 women referred over 1 year (2010) for pre-test genetic counseling with the only indication of AMA at three Italian Clinical Genetic Services.
Of 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.
The 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.
本研究的目的是评估仅因高龄产妇（AMA）而前来接受产前遗传咨询的一组孕妇在怀孕前就已存在的遗传风险。
我们回顾性分析了在意大利的三个临床遗传服务机构于1年（2010年）内转诊来进行检测前遗传咨询的1353名女性的记录，这些女性唯一的指征是高龄产妇。
在符合本研究纳入标准的1353名女性中，有87名（6.4%）累计存在94个先前未被识别的遗传风险因素（80名患者有一个风险因素，7名患者有两个风险因素）。26个风险因素（27.7%）涉及异质性或多因素疾病，68个（72.3%）涉及孟德尔或染色体疾病及近亲结婚。在这87名女性中，有9名女性后代患遗传疾病或重大结构异常的估计风险>5%。在这87名女性/家庭中的36名中，根据所识别的风险进行了进一步检测。
有额外风险因素的病例比例低于先前研究报告的比例，但仍然相当可观，这证实了需要采取策略来提高公众以及负责育龄期女性护理的卫生专业人员的认识。
