本文選題：產(chǎn)前診斷　切入點(diǎn)：羊水　出處：《重慶醫(yī)學(xué)》2015年15期

【摘要】：目的分析羊水細(xì)胞染色體,比較不同異常核型的發(fā)生率及其在產(chǎn)前診斷中的應(yīng)用價(jià)值。方法選擇2010年1月至2013年9月到該院就診有產(chǎn)前診斷指征的孕婦6 000例,行羊膜腔穿刺術(shù)、傳代法羊水細(xì)胞培養(yǎng)及胎兒染色體核型分析。結(jié)果 6 000例羊水培養(yǎng)成功5 994例(99.90%),異常核型193例(3.22%)。其中,染色體數(shù)目異常108例,占異常核型的55.96%,以21三體為主,占數(shù)目異常的67.59%(73/108);結(jié)構(gòu)異常60例,占異常核型的31.09%,其中平衡性結(jié)構(gòu)重排38例(19.69%),非平衡性結(jié)構(gòu)重排22例(11.40%);嵌合體25例(12.95%)。將孕婦按進(jìn)行穿刺的首要指征分為6組,血清學(xué)篩查高風(fēng)險(xiǎn)組和高齡組分別占受檢人數(shù)41.62%和33.70%,B超檢查示胎兒異常組和夫婦一方染色體異常組的核型異常檢出率分別為5.56%和20.00%,與其他組比較差異有統(tǒng)計(jì)學(xué)意義(P0.05)。結(jié)論傳代法羊水細(xì)胞體外培養(yǎng)對(duì)核型分析具有實(shí)用性。羊水染色體核型分析是安全、有效的診斷胎兒染色體病的方法。
[Abstract]:Objective to analyze the chromosomes of amniotic fluid cells and compare the incidence of different abnormal karyotypes and their value in prenatal diagnosis.Methods from January 2010 to September 2013, 6 000 pregnant women who had prenatal diagnosis indications were selected for amniocentesis, culture of amniotic fluid cells and karyotype analysis of fetus.Results 5 994 cases were successfully cultured with amniotic fluid and 193 cases were abnormal karyotype.There were 108 cases of abnormal chromosome number, which accounted for 55.96% of abnormal karyotype, mainly trisomy 21, 67.5973 / 108m of abnormal number, 60 cases of structural abnormality, accounting for 31.09% of abnormal karyotype, 38 cases of balanced structural rearrangement, 22 cases of non-equilibrium structural rearrangement, and 25 cases of chimera 12.95m.The pregnant women were divided into 6 groups according to the first indication of puncture.Conclusion the method of passage amniotic fluid culture in vitro is useful for karyotype analysis.Amniotic fluid chromosome karyotype analysis is a safe and effective method for diagnosis of fetal chromosome disease.
【作者單位】： 廣州醫(yī)科大學(xué)附屬第三醫(yī)院婦產(chǎn)科研究所實(shí)驗(yàn)室/廣東省產(chǎn)科重大疾病實(shí)驗(yàn)室;
【基金】：國(guó)家自然科學(xué)基金資助項(xiàng)目(81302079) 廣州醫(yī)科大學(xué)青年基金資助項(xiàng)目(2012C10) 廣州醫(yī)科大學(xué)附屬第三醫(yī)院青年基金資助項(xiàng)目(2012Y15)
【分類號(hào)】：R714.5

【參考文獻(xiàn)】

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