發(fā)布時間：2018-05-26 02:53

  本文選題：超聲軟指標 + 染色體異常��； 參考：《實用婦產(chǎn)科雜志》2017年02期

【摘要】：目的:探討妊娠中晚期超聲軟指標與胎兒染色體異常的關系及其對妊娠結局的影響。方法:回顧性分析2012年4月至2015年12月于四川省人民醫(yī)院就診的妊娠中晚期(孕18~32周)超聲檢查發(fā)現(xiàn)軟指標異常但未合并明確結構異常1141例患者的臨床資料,分析其產(chǎn)前診斷、胎兒染色體情況及圍生結局。結果:1檢測出24例胎兒染色體異常,其中10例為唐氏篩查(唐篩)低風險,5例為臨界風險,3例為高風險;9例無創(chuàng)基因檢測高風險。18例引產(chǎn),6例正常分娩,新生兒正常。2單項超聲軟指標異常者胎兒染色體異常檢出率為1.81%(20/1107),兩項超聲軟指標異常及以上者胎兒染色體異常檢出率為11.76%(4/34);兩組比較差異有統(tǒng)計學意義(P0.05)。3不同部位的超聲軟指標異常胎兒染色體異常檢出率:鼻骨缺失或發(fā)育不良為31.58%(6/19),頸后皮膚皺褶(NF)增厚為25.00%(1/4),脈絡叢囊腫為5.38%(7/130),側腦室增寬為4.27%(5/117)。結論:妊娠中晚期超聲軟指標兩項及以上異常和鼻骨缺失、發(fā)育不良及NF增厚的異常胎兒有較高的染色體異常檢出率,建議可行介入性產(chǎn)前診斷;單項超聲軟指標及其他部位異常的可結合唐篩和無創(chuàng)基因檢測,以獲得良好圍生兒結局。
[Abstract]:Objective: to investigate the relationship between soft ultrasonic markers and fetal chromosomal abnormalities in middle and late pregnancy and their effects on pregnancy outcome. Methods: from April 2012 to December 2015, the clinical data of 1141 patients with abnormal soft indexes but no complicated structural abnormalities were analyzed retrospectively, and the prenatal diagnosis was analyzed. The patients were diagnosed by ultrasound in the third trimester of pregnancy (1832 weeks of pregnancy) in Sichuan Provincial people's Hospital from April 2012 to December 2015. Fetal chromosome and perinatal outcome. Results 24 cases of fetal chromosomal abnormalities were detected by 1: 1, of which 10 cases were low risk of Down screening (Tang sieve), 5 cases were critical risk, 3 cases were high risk, 9 cases were noninvasive gene detection, and 18 cases were induced labor. 6 cases were normal delivery. The detection rate of fetal chromosomal abnormality in newborns with abnormal single ultrasonic soft index was 1.81or 20 / 1107m, and the detection rate of fetal chromosomal abnormality with two ultrasonic soft markers and above was 11.7653.The difference between the two groups was statistically significant (P 0.05.3). The detection rate of fetal chromosomal abnormalities was 31.58% in nasal bone loss or dysplasia, 25.00% in posterior cervical skin fold (NFN), 5.387 / 130 in choroid plexus cyst, 4.27% in lateral ventricle width. Conclusion: the detection rate of chromosomal abnormalities in fetuses with two or more soft indexes and nasal bone defects, dysplasia and NF thickening is higher in the middle and late pregnancy. It is suggested that interventional prenatal diagnosis be feasible. Single ultrasound soft index and other abnormal parts can be combined with Tang screen and non-invasive gene detection to obtain a good perinatal outcome.
【作者單位】： 四川省人民醫(yī)院;
【分類號】：R714.5;R445.1

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