多胎妊娠减胎前侵入性产前诊断5例临床分析

发布时间：2018-03-11 06:32

本文选题：多胎妊娠减胎　切入点：侵入性产前诊断　出处：《山东大学》2014年硕士论文　论文类型：学位论文

【摘要】：背景和目的由于近年来辅助生殖技术的应用,多胎妊娠呈逐年增加趋势,增加了母儿不良结局的发生率。选择性减胎术主要用于多胎妊娠减少胎儿数目和减去异常胎儿,可以显著改善妊娠结局。目前未进行侵入性产前诊断的选择性减胎多根据术中胎儿情况(包括体位、胎盘位置、绒毛膜性等)、手术操作难易程度、及非介入性产前诊断技术如B超检查提示的胎儿颈项透明层厚度、胎儿畸形等指导进行。但这种方法难以检测出无重大超声检查结构畸形胎儿的染色体畸形情况,并且不能确诊存在非致死性畸形的胎儿是否为染色体畸形。传统的多胎妊娠减胎(Multifetal pregnancy reduction, MFPR)病例中胎儿染色体检测情况主要依赖于减胎后中孕期羊水穿刺检查,但此时检出的染色体异常胎儿已在减胎时被保留,患者将不得不面临分娩染色体异常胎儿或者引产的选择。因此于减胎前实施侵入性产前诊断是必要的。多胎妊娠减胎前侵入性产前诊断技术是用于指导MFPR的一种有创性诊断方法,根据染色体核型结果指导多胎妊娠减胎,目前已在国外获得较多应用。不同于单胎妊娠,因为涉及到在多个胎儿中要准确区分正常和异常胎儿,且为后续的正确减胎工作做准备,多胎妊娠的产前诊断要比单胎妊娠复杂,重复性侵入性产前诊断在多胎妊娠中应用的更多。本研究主要通过分析5例实行多胎妊娠减胎前侵入性产前诊断病例,评估患者在实行产前诊断及减胎时手术方法的选择,及胎儿定位方法。方法我们对2011年9月至2014年2月间在山东大学附属山东省立医院妇产科实行的5例多胎妊娠侵入性产前诊断后减胎病例进行回顾性分析。患者或因孕期常规B超检查异常,或有明确染色体、基因异常家族史、分娩史,而胎儿缺乏明确的染色体检查结果或没有明显的致死性超声可见畸形,在获得患者知情同意后实行侵入性产前诊断后,根据染色体核型分析或基因检测结果指导进行减胎。所有病例均对病史,诊断过程,产前诊断及减胎操作过程、定位方法及妊娠结局等进行记录分析。结果 5例实行多胎妊娠减胎前侵入性产前诊断病例均于减胎前实行羊水穿刺、脐血穿刺或胎儿心脏血穿刺术,根据染色体核型分析或基因检测结果确诊预计被减胎儿染色体或基因异常后减胎。产前诊断及减胎时的定位方法主要为B超定位下根据胎盘位置、胎儿性别、胎位等分辨胎儿。5例病例中有4例患者已经成功分娩无畸形儿,1例尚处于继续妊娠中,产检B超提示异常儿已被减胎。结论 B超定位下根据胎儿、胎盘特征分辩胎儿在本实验中的应用是可靠的,但由于本实验缺乏大样本随机对照研究,尚不能得出得出本方法是安全有效的结论。
[Abstract]:Background and purpose. Due to the application of assisted reproductive technology in recent years, the number of multiple pregnancies is increasing year by year, which increases the incidence of maternal and fetal adverse outcomes. Selective pregnancy reduction is mainly used to reduce the number of fetuses and subtract abnormal fetuses. The results of pregnancy can be significantly improved. At present, the selective fetal reduction without invasive prenatal diagnosis is based on the fetal position (including position, placenta position, chorionic villi, etc.), and the degree of difficulty in operation. And non-interventional prenatal diagnostic techniques such as the thickness of the transparent layer of the fetal neck and fetal malformation indicated by B-ultrasound. However, this method is difficult to detect chromosomal abnormalities in fetuses without major structural deformities. And it is impossible to confirm whether the fetus with non-fatal malformation is chromosomal malformation. The detection of fetal chromosomes in traditional multifetal pregnancy reductionis mainly dependent on amniocentesis during pregnancy. However, the detected chromosomal abnormal fetus has been retained at the time of fetal reduction, and the patient will have to face the choice of birth chromosomal abnormality fetus or induced labor. Therefore, it is necessary to carry out invasive prenatal diagnosis before fetal reduction. Invasive prenatal diagnosis technique for multiple pregnancy reduction is an invasive diagnostic method for guiding MFPR. It has been widely used in foreign countries according to the results of chromosome karyotype to guide multiple pregnancy reduction, which is different from single pregnancy. Because it involves accurately distinguishing between normal and abnormal fetuses in multiple fetuses and preparing for subsequent correct fetal reduction, the prenatal diagnosis of multiple pregnancies is more complicated than that of single pregnancies. Repeated invasive prenatal diagnosis is more widely used in multiple pregnancy. In this study, 5 cases of invasive prenatal diagnosis before multiple pregnancy reduction were analyzed to evaluate the choice of surgical methods and fetal localization in the course of prenatal diagnosis and fetal reduction. Method. From September 2011 to February 2014, we retrospectively analyzed 5 cases of multiple pregnancy induced by invasive prenatal diagnosis in gynecology and obstetrics department of Shandong Provincial Hospital affiliated to Shandong University. Or has a clear chromosome, a family history of genetic abnormalities, a history of childbirth, and a fetus that lacks a clear result of chromosome testing or has no visible deformity of visibly fatal ultrasound, and after obtaining the patient's informed consent, carries out invasive prenatal diagnosis, According to the results of chromosome karyotype analysis or gene test, all cases were recorded and analyzed for history, diagnostic process, prenatal diagnosis and fetal reduction operation, location method and pregnancy outcome. Results. 5 cases of multiple pregnancy with invasive prenatal diagnosis were performed amniocentesis, umbilical cord blood puncture or fetal heart blood puncture before fetal reduction. According to the results of chromosome karyotype analysis or gene detection, it was confirmed that the fetus could be reduced by chromosome or gene abnormality. The main methods of prenatal diagnosis and fetal reduction were based on placenta location, fetal sex, prenatal diagnosis and fetal reduction. Of the 5 cases of fetal iso-discrimination, 4 cases had successfully delivered 1 case without malformation and 1 case was in the process of continuing pregnancy. B ultrasound examination showed that the abnormal fetus had been reduced. Conclusion. It is reliable to identify the fetus in this experiment according to the fetal and placental characteristics under B-ultrasound localization. However, due to the lack of a large sample of randomized controlled studies in this experiment, it is not possible to conclude that this method is safe and effective.
【学位授予单位】：山东大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R714.23

【参考文献】