本文選題：胎兒　切入點：皮層發(fā)育異常　出處：《山東大學》2014年碩士論文

【摘要】：第一章超聲聯(lián)合MRI診斷胎兒大腦皮層發(fā)育異常的研究 1.研究目的： 大腦皮層位于端腦背側(cè),是整個神經(jīng)系統(tǒng)進化上出現(xiàn)最晚、功能最復雜的一部分。大腦皮層的發(fā)育是一個非常復雜的過程,主要包括神經(jīng)干細胞的自我更新、分化、遷移和成熟等步驟,在其發(fā)育形成過程中任何一個階段受到異常因素(缺氧、代謝異常、感染等)或周圍環(huán)境(輻射)中的有害因素的影響均可導致大腦皮層發(fā)育畸形(malformation of cortical development, MCD)。目前對于該類疾病的產(chǎn)前診斷尚缺乏足夠經(jīng)驗,多數(shù)患兒出生后或成年出現(xiàn)臨床癥狀后才得以發(fā)現(xiàn)。 因此提高對此類疾病的認識,尤其是提高產(chǎn)前檢出率,對于優(yōu)生優(yōu)育、提供合適的產(chǎn)前咨詢非常必要。本研究總結(jié)我院產(chǎn)前診斷MCD病例,旨在探討此類疾病產(chǎn)前影像學表現(xiàn),提高對該類疾病的產(chǎn)前診斷。 2.資料與方法： 2.1.研究對象 2012年8月至2013年12月于我院行產(chǎn)前診斷,超聲提示胎兒顱腦發(fā)育異常并同時于當日或次日行胎兒顱腦MRI檢查的孕婦320例,年齡21-44歲,平均年齡29歲,孕周為26-40周,平均孕周33周。均為單胎,既往月經(jīng)規(guī)律、體健,無妊娠合并癥。 2.2.儀器和方法 采用PHILIPS IU22彩色多普勒超聲診斷儀,腹部探頭：頻率選擇3.5MHZ；腔內(nèi)探頭：頻率選擇7.5MHZ。 磁共振儀器采用PHILIPS公司生產(chǎn)的超導磁共振儀器(PHIILIPS1.5T Achieva)IPX4體部線圈。分別進行冠狀位T2WI (SSFSE序列)、軸位T2WI (SSFSE序列)、矢狀位T2WI (SSFSE序列)掃描；再進行冠狀位T1WI(GE序列)、軸位T1WI (GE序列)、矢狀位T1WI (GE序列)掃描。 對所有孕婦的妊娠進展情況進行隨訪。 3.結(jié)果： 3.1320例中診斷為大腦皮層發(fā)育異常胎兒12例； 3.2大腦皮層發(fā)育異常胎兒中,超聲提示診斷經(jīng)MRI證實8例(小頭畸形4例、灰質(zhì)異位3例、半側(cè)巨腦癥1例)；超聲漏診后經(jīng)MRI證實4例(腦裂畸形2例、結(jié)節(jié)性硬化1例、顳葉發(fā)育不良1例)； 3.3妊娠進展隨訪情況為：10例孕婦選擇終止妊娠,2例孕婦選擇繼續(xù)妊娠。 4.結(jié)論： 大腦皮層發(fā)育異常產(chǎn)前影像表現(xiàn)具有特征性,超聲聯(lián)合MRI對該類疾病產(chǎn)前診斷具有重要作用。 第二章超聲聯(lián)合MRI診斷胎兒中樞神經(jīng)系統(tǒng)畸形病例回顧 1.研究目的 胎兒中樞神經(jīng)系統(tǒng)(CNS)畸形是最常見的先天畸形之一,是嬰幼兒致畸致死的重要原因。因此孕期檢查應重視對胎兒CNS畸形的檢出,早期診斷并早期處理,這對于優(yōu)生優(yōu)育、提高人口素質(zhì)具有重要意義。 超聲診斷技術(shù)具有快捷、安全、經(jīng)濟、方便并可實時動態(tài)成像的優(yōu)點,是對胎兒行影像學診斷的首選方式,但超聲檢查在臨床工作中尚存在一定的局限性。隨著胎兒MRI技術(shù)的發(fā)展,其在胎兒CNS疾病診斷中的作用得到國內(nèi)外學者廣泛認可與重視,然而MRI不能實時、動態(tài)成像,對血流顯示不滿意,檢查費用較高,不可能成為產(chǎn)前診斷的首選方式,普及困難。 目前超聲聯(lián)合MRI對胎兒CNS畸形進行診斷已較為成熟,國內(nèi)外已廣泛開展開來。本研究通過分析我院聯(lián)合這兩種影像技術(shù)宮內(nèi)診斷CNS畸形病例的影像資料,為產(chǎn)前診斷進一步積累臨床經(jīng)驗。 2.資料與方法 同第一部分。 3.結(jié)果 超聲提示胎兒顱腦發(fā)育異常并同時于當日或次日行MRI診斷病例320例,其中：超聲與MRI結(jié)果相符122例,占38%；MRI補充診斷信息173例,占54%；MRI更正診斷信息16例,占5%；超聲提示異常但MRI檢查未顯示9例,占3%。4.結(jié)論 孕期超聲檢查對于胎兒CNS畸形的診斷具有較高的檢出率,作為產(chǎn)前診斷的首選影像學方式,對于及時、及早篩查胎兒畸形至關重要。MRI對于胎兒CNS畸形的診斷價值較高,可以對超聲漏診的病例作出補充、更正診斷信息的重要作用,因此在產(chǎn)前診斷工作中應該重視聯(lián)合這兩種檢查方式,各取其優(yōu)勢并運用于臨床。 第三章關于產(chǎn)前診斷胼胝體發(fā)育不全患兒預后的Meta分析 1.研究目的 胎兒胼胝體發(fā)育不全,通過超聲及胎兒顱腦MRI檢查可于宮內(nèi)進行診斷,但是對該類發(fā)育異常的預后情況,尤其是不同分型的預后,各學者報道不一。本研究將國內(nèi)外有關胎兒胼胝體發(fā)育不全預后情況的文獻進行系統(tǒng)綜述,探討該病的臨床結(jié)局及對比分析單純性胼胝體發(fā)育不全與伴發(fā)其他畸形的發(fā)育不全預后情況,為該病產(chǎn)前咨詢提供依據(jù)。 2.資料與方法 運用meta分析的方法綜合分析國內(nèi)外1990-2012年關于胼胝體發(fā)育不全患兒預后情況的文獻報道。 3.結(jié)果 經(jīng)篩選并納入本次meta分析的文獻共15篇,累計病例565例。產(chǎn)前診斷胎兒胼胝體發(fā)育不全,引產(chǎn)率達65%(95%CI=0.52～0.76)。男性發(fā)病率大于女性,RR值1.29(95%CI=1.04～1.59),顯著性檢驗Z=2.29,p0.05,差異具有統(tǒng)計學意義。單純性胼胝體發(fā)育不全預后良好達70%(95%CI=0.57～0.81)。伴發(fā)其他畸形的胼胝體發(fā)育不全患兒預后良好者僅僅16%(95%CI=0.07～0.32),單純性與伴發(fā)畸形胼胝體發(fā)育不全患兒預后情況對照研究經(jīng)meta分析顯示,伴發(fā)畸形的胼胝體發(fā)育不全明顯比單純性發(fā)育不全的患兒預后差,0R值0.07(95%CI=0.02～0.24),顯著性檢驗Z=4.26,p0.05,差異具有統(tǒng)計學意義。 4.結(jié)論 宮內(nèi)診斷胎兒胼胝體發(fā)育不全,其臨床結(jié)局引產(chǎn)率較高。胼胝體發(fā)育不全中男性比例大于女性。單純性較伴發(fā)畸形的胼胝體發(fā)育不全患兒預后較好,但是伴發(fā)其他畸形的胼胝體發(fā)育不全患兒預后情況不容樂觀。
[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.

【學位授予單位】：山東大學
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R445.1;R445.2;R714.5

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