妊娠中晚期超声软指标与胎儿染色体异常及其围生结局

发布时间：2018-05-26 02:53

本文选题：超声软指标 + 染色体异常　；参考：《实用妇产科杂志》2017年02期

【摘要】：目的:探讨妊娠中晚期超声软指标与胎儿染色体异常的关系及其对妊娠结局的影响。方法:回顾性分析2012年4月至2015年12月于四川省人民医院就诊的妊娠中晚期(孕18~32周)超声检查发现软指标异常但未合并明确结构异常1141例患者的临床资料,分析其产前诊断、胎儿染色体情况及围生结局。结果:1检测出24例胎儿染色体异常,其中10例为唐氏筛查(唐筛)低风险,5例为临界风险,3例为高风险;9例无创基因检测高风险。18例引产,6例正常分娩,新生儿正常。2单项超声软指标异常者胎儿染色体异常检出率为1.81%(20/1107),两项超声软指标异常及以上者胎儿染色体异常检出率为11.76%(4/34);两组比较差异有统计学意义(P0.05)。3不同部位的超声软指标异常胎儿染色体异常检出率:鼻骨缺失或发育不良为31.58%(6/19),颈后皮肤皱褶(NF)增厚为25.00%(1/4),脉络丛囊肿为5.38%(7/130),侧脑室增宽为4.27%(5/117)。结论:妊娠中晚期超声软指标两项及以上异常和鼻骨缺失、发育不良及NF增厚的异常胎儿有较高的染色体异常检出率,建议可行介入性产前诊断;单项超声软指标及其他部位异常的可结合唐筛和无创基因检测,以获得良好围生儿结局。
[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.
【作者单位】：四川省人民医院;
【分类号】：R714.5;R445.1

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