【摘要】：目的分析"全面二孩"政策下,高齡妊娠產(chǎn)前診斷胎兒染色體異常的發(fā)生率,為高齡人群提供適宜的產(chǎn)前診斷策略。方法統(tǒng)計(jì)2015年1月至2016年12月在我院醫(yī)學(xué)遺傳中心行介入性產(chǎn)前診斷10 607例中3 569例高齡孕婦的胎兒染色體核型分析結(jié)果,其中854例同時(shí)行染色體微陣列分析(chromosomal microarray analysis,CMA)。對(duì)比不同年齡組(35~39歲及40歲以上)胎兒染色體異常的發(fā)生率及異常類型分析。結(jié)果 10 607例產(chǎn)前診斷中,高齡妊娠比例33.6%;二孩政策開放后,有產(chǎn)前診斷需求的高齡孕婦增加,由27.2%上升到37.9%,胎兒染色體異常的檢出率分別為7.9%與10.8%,差異顯著;常染色體非整倍體的檢出率為5.2%與7.8%,2016年比2015年顯著增高,但其它類型染色體異常無差異;3 569例高齡妊娠中有854例同時(shí)行CMA,CMA陽性率分別為39.4%與26.7%,CMA是染色體核型分析的有利補(bǔ)充,對(duì)染色體微缺失與微重復(fù)檢測(cè)有重要意義。結(jié)論 2016年因高齡行產(chǎn)前診斷的孕婦增加,胎兒染色體異常的檢出率增加;胎兒染色體異常與孕婦年齡密切相關(guān)。對(duì)高齡妊娠,孕前應(yīng)遺傳咨詢、孕后需產(chǎn)前診斷排除胎兒染色體異常。
[Abstract]:Objective to analyze the incidence of fetal chromosomal abnormalities in prenatal diagnosis of elderly pregnancy under the policy of "comprehensive two-child", and to provide a suitable prenatal diagnosis strategy for the elderly. Methods from January 2015 to December 2016, the results of chromosome karyotype analysis of 3 569 fetuses in 10 607 cases of interventional prenatal diagnosis in our Medical genetic Center were analyzed, including 854 cases of which (chromosomal microarray analysis was performed simultaneously. To compare the incidence and type of chromosomal abnormalities in different age groups (35 ~ 39 years old and over 40 years old). Results in 10 607 cases of prenatal diagnosis, the proportion of elderly pregnant women was 33.60.After the opening of the two-child policy, the number of elderly pregnant women with prenatal diagnosis requirements increased from 27.2% to 37.9%, and the detection rate of fetal chromosomal abnormalities was 7.9% and 10.8 respectively, the difference was significant. The detection rate of autosomal aneuploidy was 5.2% and 7.8, and it was significantly higher in 2016 than in 2015. However, the positive rates of CMA-CMA were 39.4% and 26.7%, respectively, in 854 out of 3 569 elderly pregnancies with other types of chromosomal abnormalities. It is of great significance for the detection of chromosome microdeletion and microrepetition. Conclusion in 2016, the detection rate of fetal chromosomal abnormalities was increased due to the increase of prenatal diagnosis in the elderly women, and the fetal chromosomal abnormalities were closely related to the pregnant women's age. For advanced pregnancy, genetic counseling should be carried out before pregnancy, and prenatal diagnosis is necessary to exclude fetal chromosomal abnormalities.
【作者單位】： 廣東省婦幼保健院醫(yī)學(xué)遺傳中心;
【基金】：廣東省醫(yī)學(xué)科研基金資助項(xiàng)目(編號(hào):A2013079)
【分類號(hào)】：R714.5

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本文編號(hào)：2136051