荧光原位杂交技术在妊娠晚期应用价值探讨

发布时间：2018-09-08 13:10

【摘要】：目的:探讨妊娠晚期宫内发育异常胎儿羊水间期细胞荧光原位杂交(FISH)检测的意义。方法:选取2014年1月至2015年12月青岛市妇女儿童医院胎儿医学中心接诊的妊娠26~40周行羊水细胞FISH检测的83例孕妇。评价妊娠晚期FISH技术用于检测唐氏筛查高风险孕妇、高龄孕妇以及发育异常胎儿染色体异常检测的意义。结果:80例孕妇接受妊娠晚期羊水细胞FISH检测,有妊娠中期产前诊断指征的孕妇中,胎儿染色体异常患病率为26%(8/31)。妊娠晚期发现发育或结构异常的胎儿中,胎儿染色体异常患病率为6%(3/49)。妊娠晚期出现发育或结构异常的胎儿中,3例患儿均为21三体,其妊娠晚期超声表现分别为侧脑室扩张合并脐血流异常、十二指肠闭锁合并羊水扩张及胎儿生长受限。结论:对于妊娠中期有产前诊断指征但错过诊断时机的胎儿,需在妊娠晚期行羊水细胞FISH检测。妊娠晚期超声提示发育或结构异常的胎儿,需考虑行羊水FISH检测。
[Abstract]:Objective: to investigate the significance of fluorescence in situ hybridization (FISH) in the detection of fetal amniotic fluid in the third trimester of pregnancy. Methods: from January 2014 to December 2015, 83 pregnant women who were treated by the Fetal Medical Center of Qingdao Women's and Children's Hospital were examined for amniotic fluid (FISH) in 2640 weeks of pregnancy. To evaluate the significance of FISH technique in the detection of chromosomal abnormalities in high risk pregnant women, elderly pregnant women and developmental abnormal fetuses during the third trimester of pregnancy. Results among 80 pregnant women who received FISH detection of amniotic fluid cells in the third trimester, the incidence of fetal chromosomal abnormality was 26% (8 / 31) in the pregnant women with prenatal diagnosis indications in the second trimester of pregnancy. The prevalence of chromosomal abnormalities was 6% (3 / 49) in the fetus with developmental or structural abnormalities in the third trimester of pregnancy. There were 3 cases of trisomy 21 in the third trimester of fetus with abnormal development or structure in the third trimester of pregnancy. The findings of ultrasound in the third trimester of pregnancy were lateral ventricular dilatation with abnormal umbilical blood flow, duodenal atresia with amniotic fluid dilatation and fetal growth restriction. Conclusion: FISH of amniotic fluid should be detected in the third trimester of pregnancy for the fetus with prenatal diagnosis indication but missed the diagnosis opportunity in the second trimester of pregnancy. FISH detection of amniotic fluid should be taken into account in fetuses with abnormal development or structure indicated by ultrasound in the third trimester of pregnancy.
【作者单位】：青岛大学附属青岛市妇女儿童医院产科中心;同济大学附属上海市第一妇婴保健院产科;
【基金】：山东省医院卫生科技发展计划(No:2015WS0336) 青岛市医药科研指导计划(No:2014-WJZD124) 青岛市科技指导计划项目(No:KJZD-14-12-NSH)
【分类号】：R714.5

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