本文選題：羊水穿刺 + 染色體��； 參考：《中國(guó)婦產(chǎn)科臨床雜志》2015年06期

【摘要】：目的通過(guò)對(duì)妊娠中期孕婦羊水染色體結(jié)構(gòu)異常產(chǎn)前診斷指征分布、發(fā)病率及妊娠結(jié)局的分析,探討妊娠中期胎兒染色體結(jié)構(gòu)異常的妊娠結(jié)局。方法對(duì)2011年2月至2015年3月2 562例羊水染色體檢查中76例染色體結(jié)構(gòu)異常孕婦的臨床資料進(jìn)行回顧性分析。結(jié)果 2 562例羊水標(biāo)本中,檢出76例(2.97%)染色體結(jié)構(gòu)異常,其中染色體倒位29例,相互易位25例,不平衡易位11例,復(fù)雜重排5例,其他結(jié)構(gòu)異常6例。76例患者中,55例患者選擇繼續(xù)妊娠,其中29例染色體倒位,23例相互易位,3例復(fù)雜重排;21例患者選擇終止妊娠,其中染色體不平衡易位11例,復(fù)雜重排2例,其他結(jié)構(gòu)異常6例,X與常染色體新發(fā)突變易位1例,遺傳型易位伴T(mén)urner綜合征1例。結(jié)論產(chǎn)前診斷中羊水染色體結(jié)構(gòu)異常主要為染色體倒位、相互易位、不平衡易位及復(fù)雜重排。絕大部分相互易位及倒位的結(jié)構(gòu)異�？梢赃x擇繼續(xù)妊娠。不平衡易位及復(fù)雜重排由于涉及基因片段的增加或丟失,大部份選擇終止妊娠。
[Abstract]:Objective to study the pregnancy outcome of fetal chromosomal structure abnormality in the second trimester of pregnancy by analyzing the distribution, incidence and outcome of prenatal diagnosis of amniotic fluid chromosomal structural abnormality in the second trimester of pregnancy. Methods from February 2011 to March 2015, the clinical data of 76 pregnant women with abnormal chromosomal structure in amniotic fluid from February 2011 to March 2015 were retrospectively analyzed. Results among the 2 562 amniotic fluid samples, 76 cases were found to have abnormal chromosomal structure, including 29 cases of chromosome inversion, 25 cases of mutual translocation, 11 cases of unbalanced translocation and 5 cases of complex rearrangement. Among the 6 patients with other structural abnormalities, 55 patients chose to continue pregnancy. Among them, 29 patients with chromosome inversion 23 patients with reciprocal translocation and 3 patients with complicated rearrangement chose to terminate pregnancy, including 11 patients with chromosomal imbalance translocation and 2 patients with complex rearrangement. Other structural abnormalities were found in 6 cases with autosomal new mutation translocation in 1 case and genetic translocation with Turner syndrome in 1 case. Conclusion in prenatal diagnosis, chromosomal abnormalities in amniotic fluid are mainly chromosomal inversion, mutual translocation, unbalanced translocation and complex rearrangement. Most of the structural abnormalities of mutual translocation and inversion can choose to continue pregnancy. Unbalanced translocation and complex rearrangement involve the increase or loss of gene fragments, most of them choose to terminate pregnancy.
【作者單位】： 深圳市龍崗區(qū)婦幼保健院產(chǎn)前診斷中心;
【基金】：深圳市龍崗區(qū)重點(diǎn)科技計(jì)劃項(xiàng)目(YLWS2014 0610155624914)
【分類(lèi)號(hào)】：R714.5

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相關(guān)期刊論文 前4條

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本文編號(hào)：2038115