关于超声联合MRI诊断胎儿CNS畸形及ACC胎儿预后的研究

发布时间：2018-04-05 09:01

本文选题：胎儿　切入点：皮层发育异常　出处：《山东大学》2014年硕士论文

【摘要】：第一章超声联合MRI诊断胎儿大脑皮层发育异常的研究 1.研究目的：大脑皮层位于端脑背侧,是整个神经系统进化上出现最晚、功能最复杂的一部分。大脑皮层的发育是一个非常复杂的过程,主要包括神经干细胞的自我更新、分化、迁移和成熟等步骤,在其发育形成过程中任何一个阶段受到异常因素(缺氧、代谢异常、感染等)或周围环境(辐射)中的有害因素的影响均可导致大脑皮层发育畸形(malformation of cortical development, MCD)。目前对于该类疾病的产前诊断尚缺乏足够经验,多数患儿出生后或成年出现临床症状后才得以发现。因此提高对此类疾病的认识,尤其是提高产前检出率,对于优生优育、提供合适的产前咨询非常必要。本研究总结我院产前诊断MCD病例,旨在探讨此类疾病产前影像学表现,提高对该类疾病的产前诊断。 2.资料与方法： 2.1.研究对象 2012年8月至2013年12月于我院行产前诊断,超声提示胎儿颅脑发育异常并同时于当日或次日行胎儿颅脑MRI检查的孕妇320例,年龄21-44岁,平均年龄29岁,孕周为26-40周,平均孕周33周。均为单胎,既往月经规律、体健,无妊娠合并症。 2.2.仪器和方法采用PHILIPS IU22彩色多普勒超声诊断仪,腹部探头：频率选择3.5MHZ；腔内探头：频率选择7.5MHZ。磁共振仪器采用PHILIPS公司生产的超导磁共振仪器(PHIILIPS1.5T Achieva)IPX4体部线圈。分别进行冠状位T2WI (SSFSE序列)、轴位T2WI (SSFSE序列)、矢状位T2WI (SSFSE序列)扫描；再进行冠状位T1WI(GE序列)、轴位T1WI (GE序列)、矢状位T1WI (GE序列)扫描。对所有孕妇的妊娠进展情况进行随访。 3.结果： 3.1320例中诊断为大脑皮层发育异常胎儿12例； 3.2大脑皮层发育异常胎儿中,超声提示诊断经MRI证实8例(小头畸形4例、灰质异位3例、半侧巨脑症1例)；超声漏诊后经MRI证实4例(脑裂畸形2例、结节性硬化1例、颞叶发育不良1例)； 3.3妊娠进展随访情况为：10例孕妇选择终止妊娠,2例孕妇选择继续妊娠。 4.结论：大脑皮层发育异常产前影像表现具有特征性,超声联合MRI对该类疾病产前诊断具有重要作用。第二章超声联合MRI诊断胎儿中枢神经系统畸形病例回顾 1.研究目的胎儿中枢神经系统(CNS)畸形是最常见的先天畸形之一,是婴幼儿致畸致死的重要原因。因此孕期检查应重视对胎儿CNS畸形的检出,早期诊断并早期处理,这对于优生优育、提高人口素质具有重要意义。超声诊断技术具有快捷、安全、经济、方便并可实时动态成像的优点,是对胎儿行影像学诊断的首选方式,但超声检查在临床工作中尚存在一定的局限性。随着胎儿MRI技术的发展,其在胎儿CNS疾病诊断中的作用得到国内外学者广泛认可与重视,然而MRI不能实时、动态成像,对血流显示不满意,检查费用较高,不可能成为产前诊断的首选方式,普及困难。目前超声联合MRI对胎儿CNS畸形进行诊断已较为成熟,国内外已广泛开展开来。本研究通过分析我院联合这两种影像技术宫内诊断CNS畸形病例的影像资料,为产前诊断进一步积累临床经验。 2.资料与方法同第一部分。 3.结果超声提示胎儿颅脑发育异常并同时于当日或次日行MRI诊断病例320例,其中：超声与MRI结果相符122例,占38%；MRI补充诊断信息173例,占54%；MRI更正诊断信息16例,占5%；超声提示异常但MRI检查未显示9例,占3%。4.结论孕期超声检查对于胎儿CNS畸形的诊断具有较高的检出率,作为产前诊断的首选影像学方式,对于及时、及早筛查胎儿畸形至关重要。MRI对于胎儿CNS畸形的诊断价值较高,可以对超声漏诊的病例作出补充、更正诊断信息的重要作用,因此在产前诊断工作中应该重视联合这两种检查方式,各取其优势并运用于临床。第三章关于产前诊断胼胝体发育不全患儿预后的Meta分析 1.研究目的胎儿胼胝体发育不全,通过超声及胎儿颅脑MRI检查可于宫内进行诊断,但是对该类发育异常的预后情况,尤其是不同分型的预后,各学者报道不一。本研究将国内外有关胎儿胼胝体发育不全预后情况的文献进行系统综述,探讨该病的临床结局及对比分析单纯性胼胝体发育不全与伴发其他畸形的发育不全预后情况,为该病产前咨询提供依据。 2.资料与方法运用meta分析的方法综合分析国内外1990-2012年关于胼胝体发育不全患儿预后情况的文献报道。 3.结果经筛选并纳入本次meta分析的文献共15篇,累计病例565例。产前诊断胎儿胼胝体发育不全,引产率达65%(95%CI=0.52～0.76)。男性发病率大于女性,RR值1.29(95%CI=1.04～1.59),显著性检验Z=2.29,p0.05,差异具有统计学意义。单纯性胼胝体发育不全预后良好达70%(95%CI=0.57～0.81)。伴发其他畸形的胼胝体发育不全患儿预后良好者仅仅16%(95%CI=0.07～0.32),单纯性与伴发畸形胼胝体发育不全患儿预后情况对照研究经meta分析显示,伴发畸形的胼胝体发育不全明显比单纯性发育不全的患儿预后差,0R值0.07(95%CI=0.02～0.24),显著性检验Z=4.26,p0.05,差异具有统计学意义。 4.结论宫内诊断胎儿胼胝体发育不全,其临床结局引产率较高。胼胝体发育不全中男性比例大于女性。单纯性较伴发畸形的胼胝体发育不全患儿预后较好,但是伴发其他畸形的胼胝体发育不全患儿预后情况不容乐观。
[Abstract]:A study of ultrasound combined with MRI in the diagnosis of fetal cerebral cortex dysplasia
1. the purpose of the study:
The cerebral cortex is located in the dorsal telencephalon, the nervous system evolution appears late, a part of the most complex function. The cerebral cortex development is a very complex process, including neural stem cell self-renewal, differentiation, migration and maturation steps in the development of any stage of a process by abnormal factors (hypoxia, metabolic abnormalities, infection, etc.) or the surrounding environment (radiation) effects can be harmful factors to the brain malformations of cortical development (malformation of cortical development, MCD). The prenatal diagnosis of the disease is still lack of enough experience, the majority of children after birth or adult clinical symptoms after found.
Therefore, to improve the understanding of this disease, especially to improve the prenatal detection rate for eugenics, necessary to provide appropriate prenatal counseling. This study summarized in our hospital for prenatal diagnosis of MCD patients, to investigate the disease prenatal imaging performance, improve the diagnosis of the disease before production.
2. information and methods:
2.1. research object
From August 2012 to December 2013 in our hospital for prenatal diagnosis, ultrasound abnormalities and at the same time in the same day or next day for fetal brain MRI examination of 320 pregnant women with fetal brain development, 21-44 years of age, the average age of 29 years, gestational age was 26-40 weeks, the average gestational age of 33 weeks. All single births, previous menstrual regularity, body health no, pregnancy complications.
2.2. instruments and methods
PHILIPS IU22 color Doppler ultrasound diagnostic instrument, abdominal probe: frequency selection 3.5MHZ; intracavity probe: frequency selection 7.5MHZ.
Magnetic resonance instrument superconducting magnetic resonance instrument produced by PHILIPS (PHIILIPS1.5T Achieva) IPX4 body coil respectively. The coronal T2WI (SSFSE sequence), axial T2WI (SSFSE sequence), sagittal T2WI (SSFSE sequence) and coronal scanning; T1WI (GE sequence), axial T1WI (GE sequence), sagittal T1WI scanning (GE sequence).
The progress of pregnancy in all pregnant women was followed up.
3. results:
Of the 3.1320 cases, 12 cases were diagnosed as abnormal foetus with cerebral cortex.
3.2 cortical abnormalities in the fetus, ultrasonic diagnosis confirmed by MRI in 8 cases (4 cases of microcephaly, 3 cases of heterotopic gray matter HME 1 cases); ultrasound diagnosis confirmed by MRI leakage 4 cases (2 cases of schizencephaly, 1 cases of tuberous sclerosis in temporal lobe dysplasia in 1 cases);
3.3 the follow-up of pregnancy was followed: 10 pregnant women chose to terminate pregnancy, and 2 pregnant women chose to continue pregnancy.
4. conclusion:
The abnormal antenatal imaging of the cerebral cortex is characteristic. Ultrasound combined with MRI plays an important role in the prenatal diagnosis of this disease.
Second chapters in the diagnosis of fetal central nervous system malformation with ultrasound combined with MRI
1. purpose of research
Fetal malformation of central nervous system (CNS) is one of the most common congenital deformities, is an important cause of infant death. Therefore teratogenic pregnancy examination should pay attention to the detection of fetal malformation CNS, early diagnosis and early treatment, which for eugenics, improve population quality has important significance.
Ultrasonic diagnosis technology is fast, safe, economic, convenient and has the advantages of real-time imaging, is the preferred way to diagnosis of fetal ultrasound image, but in clinical work, there are still some limitations. With the development of fetal MRI technology, the CNS in the diagnosis of fetal disease in the role at home and abroad scholars are widely recognized and paid attention to, but MRI can not be real-time, dynamic imaging, the flow is not satisfied, check the high cost, can not become the preferred method for prenatal diagnosis of universal difficulties.
At present, ultrasound combined with MRI has been relatively mature in the diagnosis of fetal CNS malformation. It has been widely carried out at home and abroad. This study analyzed the imaging data of two cases of intrauterine diagnosis of CNS malformation in our hospital, so as to further accumulate clinical experience for prenatal diagnosis.
2. data and methods
Same as the first part.
3. results
Ultrasound fetal brain abnormalities and at the same time on the same day or next day for MRI diagnosis of 320 cases, including: ultrasound and MRI are consistent with the results of 122 cases, accounting for 38%; MRI added diagnostic information in 173 cases, accounting for 54%; MRI correct diagnostic information in 16 cases, accounting for 5%; ultrasound examination did not show abnormal MRI in 9 cases. Conclusion 3%.4.
Pregnancy ultrasound examination has a higher detection rate for the diagnosis of fetal malformation of the CNS, as the first choice of imaging teaching methods for prenatal diagnosis, timely, early screening of fetal malformation is essential for.MRI high diagnostic value of fetal CNS malformation, can be missed by ultrasound in case of correct diagnosis, important information, so on. Prenatal diagnosis should pay attention to the combination of these two inspection methods, taking the advantage and applied to clinical.
The third chapter on the Meta analysis of the prognosis of prenatal diagnosis of corpus callosum dysplasia
1. purpose of research
Fetal agenesis of the corpus callosum by ultrasound and fetal brain MRI examination can be diagnosed in utero, but the prognosis of the developmental anomaly, especially the prognosis of different types, different scholars reported. This study will conduct a systematic review of the domestic and foreign related fetal agenesis of the corpus callosum prognosis literature to investigate the clinical outcome of the disease and comparative analysis of isolated agenesis of the corpus callosum and associated with other malformations of the hypoplastic prognosis, provide the basis for the prenatal consultation.
2. data and methods
The literature on the prognosis of children with corpus callosum dysplasia in 1990-2012 years at home and abroad was analyzed by the method of meta analysis.
3. results
The screening and analysis of the meta document into a total of 15, total of 565 cases. The prenatal diagnosis of fetal agenesis of the corpus callosum, abortion rate is 65% (95%CI=0.52 ~ 0.76). The incidence of male than female, RR = 1.29 (95%CI=1.04 ~ 1.59), Z=2.29, P0.05 significant difference statistically. Meaning. Isolated agenesis of the corpus callosum with good prognosis was 70% (95%CI=0.57 ~ 0.81). Associated with other malformations of the corpus callosum agenesis with good prognosis with only 16% (95%CI=0.07 ~ 0.32), simple and complicated abnormalities agenesis of the corpus callosum prognosis situation control study by meta analysis showed that with the corpus callosum hypoplasia deformity than simple prognosis of children with hypoplasia, 0R = 0.07 (95%CI=0.02 ~ 0.24), Z=4.26, P0.05 significant test, the difference was statistically significant.
4. conclusion
Intrauterine diagnosis of fetal agenesis of the corpus callosum, the abortion rate is higher. The clinical outcome of agenesis of the corpus callosum in the proportion of men more than women. Compared with simple corpus callosum hypoplasia in children with deformity and good prognosis, but associated with other malformations of the corpus callosum agenesis prognosis situation is not optimistic.

【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】：R445.1;R445.2;R714.5

【参考文献】