早中孕超声检查联合无创产前基因检测在染色体异常胎儿中的价值

目的探讨早中孕期胎儿超声检查联合无创产前基因检测(NIPT)筛查胎儿染色体异常的临床应用价值。方法选取2016年6月～2017年12月于我院进行早中孕期胎儿超声检查的孕妇共14 601例,其中2 575例超声检查异常作为研究对象,根据孕妇是否选择无创产前基因检测(NIPT)分为超声组及联合组。仅超声异常为超声组,超声异常联合NIPT筛查为联合组。对超声组与联合组的染色体异常检出率进行统计分析对比。结果联合组共318例,其中进行侵入性产前诊断共67例,证实染色体异常23例,染色体异常检出率34.3%(23/67);超声组共2257例,其中进行侵入性产前诊断检查443例,证实染色体异常75例,染色体异常检出率16.9%(75/443)。联合组染色体异常检出率高于超声组,差异具有统计学意义(χ~2=11.349,P0.01)。结论早中孕期胎儿超声检查联合无创产前基因检测能提高胎儿染色体异常检出率,二者互为补充,能减少染色体异常漏诊率,有很好的临床应用价值。     

MRI在胎儿中枢神经系统畸形的应用价值

目的 评价MRI在胎儿中枢神经系统畸形中的应用价值.资料与方法 22例孕妇,年龄23～40岁,年龄平均28岁;孕龄23～40周,平均30周.产前超声(US)检查后48 h内行MRI检查,T2WI采用半傅里叶单激发快速自旋回波序列(HASTE)、真稳态进动快速成像序列(True FISP),T1WI采用超快速小角度激发序列(FLASH)(Turbo FLASH)扫描,将产前MRI、US表现与产后诊断或尸检结果对照.结果 产前MRI与US诊断一致并正确者9例,产前MRI正确并证实US可疑病变2例,产前MRI正确并完善产前US诊断1例,产前MRI正确并改变产前US诊断7例,产前US正确MRI不正确1例,产前US正确且完善MRI诊断2例.结论 MRI对胎儿神经系统畸形的诊断具有一定的优势,与US相比,MRI可提供更全面、更准确的信息,甚至更正US诊断,可作为胎儿中枢神经系统畸形的一种重要检查方法和补充手段.     

染色体微阵列分析技术在侧脑室增宽胎儿产前诊断中的应用价值

目的 应用染色体微阵列分析技术(CMA)在全基因组水平分析侧脑室增宽胎儿的遗传学病因,探讨胎儿侧脑室增宽与染色体拷贝数变异(CNVs)的相关性及CMA检测在侧脑室增宽胎儿产前诊断中的应用价值.方法 选取2015年1月-2016年11月在第四军医大学西京医院就诊并接受介入性产前诊断的70例孕中/晚期超声提示胎儿侧脑室宽大于1.0cm且标准G显带染色体核型分析正常或G显带染色体核型分析不能确定的染色体异常胎儿样本,应用Affymetrix CytoScanTM750k芯片进行CMA检测,根据相关生物信息学数据库对CMA检测结果进行全面分析,并定期复查胎儿的发育情况,随访妊娠结局及胎儿出生后的生长发育状况.结果 在70例侧脑室增宽胎儿中,CMA检测发现9例胎儿存在致病性CNVs,3例胎儿存在意义不明确、可能致病的CNVs,1例胎儿存在意义不明确、可能致病的杂合性缺失(LOH).在70例侧脑室增宽胎儿中,重度非孤立性侧脑室增宽6例,其中致病性CNVs 2例(33.3％,2/6);重度孤立性侧脑室增宽3例,未检出致病性CNVs,意义不明确、可能致病CNVs 1例(33.3％,1/3);轻度非孤立性侧脑室增宽31例,其中致病性CNVs 6例(19.4％,6/31),意义不明确、可能致病CNVs 2例(6.5％,2/31);轻度孤立性侧脑室增宽30例,其中致病性CNVs 1例(3.3％,1/30),意义不明确、可能致病CNVs 1例(3.3％,1/30).结论 CMA可更有效地检测出传统核型分析无法识别的微缺失、微重复等染色体异常,对侧脑室增宽的胎儿进行CMA检测能够提高异常检出率,对临床产前诊断及遗传咨询具有重要价值.     

产前超声诊断胎儿脉络丛囊肿声像图特征及临床意义

目的 探究产前超声诊断胎儿脉络丛囊肿的声像图特征及临床意义。方法 选择2020年8月至2022年7月于我院产前超声检出胎儿脉络丛囊肿的孕妇78例均行染色体核型检查。分析胎儿超声检查结果及脉络丛囊肿的声像图特征;以染色体核型结果为金标准,分析产前超声检查应用价值;对孕妇均进行随访并分析妊娠结局。结果 检出双侧脉络丛囊肿27例,检出率为35%(27/78);单侧脉络丛囊肿51例,检出率为65%(51/78);另孤立性脉络丛囊肿检出71例,检出率为91%(71/78),复杂性脉络丛囊肿7例,检出率为9%(7/78)。所有孤立性脉络丛囊肿孕妇经染色体核型检查均未见异常;另7例复杂性脉络丛囊肿经染色体核型分析可见存在2例存在异常;产前超声在不同性质脉络丛囊肿诊断中灵敏度为97.26%(71/73),特异度为28.57%(2/7),准确度为93.59%(73/78),阳性预测值为93.42%(71/76),阴性预测值为100.00%(2/2)。78例孕妇均获得完整随访,孤立性脉络丛囊肿胎儿均活产;7例复咋性脉络丛囊肿胎儿中4例终止妊娠。结论 产前超声能够有效辨别孤立性或复杂胎儿脉络丛囊肿,为临床诊...     

超声检查在胎儿畸形筛查中的应用效果及与染色体异常相关性研究

目的评价超声检查应用于胎儿畸形筛查的效果及胎儿畸形与染色体异常的相关性。方法从2012年1月～2017年10月我院接受产前筛查的孕妇中选取1000例为观察对象,回顾分析孕妇超声检查胎儿畸形筛查结果,并分析胎儿畸形与染色体异常存在的关系。结果产后显示受检者中共有16例畸形胎儿,超声检查共检出15例,准确率为93.75%(15/16),漏诊率为6.25%(1/16);15例畸形胎儿均引产,与大体标本观察结果比较,超声诊断符合率为93.75%;先天性足或手畸形、四肢短小发生率最高,所占比例分别为40.00%、13.33%;10例行胎儿染色体检查,提示染色体正常为7例(70.00%),染色体异常为3例(30.00%)。结论超声检查中,胎儿畸形显示存在典型图像特征,可获得较高检出率,胎儿肢体畸形常与染色体异常存在一定相关性。     

羊水过少致胎儿肺发育不良的MRI评价

目的:探讨MRI对羊水过少致胎儿肺发育不良的定性和定量诊断价值。方法:病例组包括26例因羊水过少致胎儿肺发育不良的孕妇,年龄21～43岁,平均28岁;孕龄22～36周,平均25周。另选取26例相应孕周胎儿肺发育正常的孕妇作为对照组,产前常规行超声(US)检查后24～48h内行MRI检查,采用稳态自由进动(SSFP)序列和单次激发快速自旋回波(SSTSE)序列T2WI以及快速T1WI序列,将产前MRI、US表现与胎儿出生后影像学或尸检结果进行对照。结果:26例孕妇均诊断为羊水过少,其中泌尿系异常所致22例、胎膜早破所致4例。羊水过少组胎儿肺肝信号强度比(LLSIR)为1.34±0.27,显著低于正常对照组(2.14±0.70),2组间差异有高度统计学意义(P<0.01)。26例胎儿US均未提示双肺发育不良;对于羊水过少的病因诊断,US漏诊2例、诊断不完全正确3例,MRI均诊断正确。结论:MRI可以量化评价羊水过少致胎儿肺发育不良程度,准确诊断羊水过少病因,是诊断羊水过少合并胎儿异常的较理想的评价方法。     

胎儿超声软指标及结构异常在胎儿染色体异常产前诊断中临床价值

目的 探讨胎儿超声软指标及结构异常在胎儿染色体异常产前诊断中的临床价值。方法 选取百色市妇幼保健院产前诊断中心自2020年2月至2022年11月收治的孕育具有超声软指标或结构异常胎儿的283例孕妇为研究对象。所有胎儿均接受介入性染色体筛查,分析不同超声软指标和结构异常胎儿的染色体异常情况,采用多因素Logistic回归分析影响胎儿染色体异常的相关因素。结果 283例孕妇中：单项超声软指标异常249例(87.98%),2项软指标异常29例(10.25%),3项及以上软指标异常5例(1.77%);单项结构异常96例(33.92%),2项结构异常19例(6.71%),3项及以上结构异常2例(0.71%)。超声软指标异常胎儿的染色体异常检出率依次为鼻骨发育异常(16.39%)、侧脑室增宽(13.43%)、NT增厚(12.36%)、脉络丛囊肿(11.76%)、单脐动脉(11.53%)、长骨短小(10.00%)、心室强光点(8.70%)、肾盂分离(4.17%),肠管强回声胎儿未检出染色体异常。超声单项结构异常胎儿的染色体异常检出率依次为颈部水囊瘤(25.00%)、心脏系统(19.23%)、神经系统...     

妊娠中、晚期超声筛查胎儿染色体三体的临床价值

目的探讨妊娠中、晚期超声筛查胎儿染色体三体的临床价值。资料与方法在妊娠中期和中晚期对产前诊断染色体有异常指征的3 297例孕妇行羊水或脐血穿刺术检查染色体核型,比较超声异常组、唐氏高危组、高龄孕妇组的染色体三体检出率为7.14%,并分析染色体三体与超声异常的关系。结果接受羊水穿刺并培养成功的3 110例孕妇中,检出染色体三体53例,染色体三体检出率为1.70%;3 110例孕妇中超声异常98例,其中检出染色体三体7例,染色体三体检出率为7.14%。超声异常组染色体三体检出率明显高于唐氏高危组1.15%(14/122 2()χ2=20.842,P<0.001)、高龄孕妇组0.73%(5/688)(χ2=23.489,P<0.001)。187例脐血染色体核型分析,检出染色体三体18例,染色体三体检出率为9.62%;187例孕妇中超声异常128例,检出染色体三体12例,染色体三体检出率为9.38%。结论超声筛查胎儿染色体三体既具有重要价值,又有一定的局限性,运用联合筛查的方法,可取长补短,提高染色体三体胎儿的检出率。     

MRI在诊断胎儿肾发育异常中的价值

目的 探讨MRI在诊断胎儿肾发育异常(FRDA)中的价值.方法 采用MR扩散加权成像(DWI)和快速成像序列对11例超声(US)提示FRDA的胎儿进行盆腹部横断面、矢状面及冠状面扫描,将MRI表现与产前和产后超声结果对照.结果 MRI诊断结果与产后US一致,MRI和产后US诊断一侧异位肾4例(左侧2例、右侧2例,其中1例产前US诊断为右肾缺如),一侧肾缺如5例(左侧2例、右侧3例,其中1例产前US诊断为左肾发育不全),1例左肾发育不全,1例双肾发育不全(产前US诊断为右肾缺如伴左肾发育不全).结论 MRI可以清晰显示胎儿肾的形态和位置,是产前US诊断FRDA的重要补充.     

羊水过少胎儿结构和相关畸形的MRI诊断价值

目的:评价磁共振成像(MRI)对羊水过少胎儿结构及相关畸形的诊断价值.方法:34例孕妇,孕龄20～35周.产前常规行超声(US)检查后24～48h内行MR检查,采用二维快速平衡稳态采集(2D FIESTA)序列、单次激发快速自旋回波(SSFSE)序列,行胎儿颅脑胸腹部常规及双肺、双肾重点冠状面、矢状面及横断面扫描,将产前MRI、US表现与出生后影像或引产后尸解对照.通过MRI采用感兴趣区工具(ROI)测量胎儿肺肝信号强度比(LLSIR).结果:34例羊水过少胎儿MRI均能清晰显示其结构,20例存在泌尿系统畸形(其中12例合并肺发育不良),3例只合并双肺发育不良,特发性羊水过少11例.合并肺发育不良共计15例.18例出生,16例引产.除4例引产未尸检外,其余均由出生影像学或引产后尸解证实.结论:MRI是显示羊水过少胎儿结构及相关异常最有效的诊断方法,它能不受羊水过少的影响,清晰显示胎儿结构及相关异常.     

Fetal MRI as a complement to US in the evaluation of cleft lip and palate

Purpose

The aim of our study was to investigate the role of fetal magnetic resonance imaging (MRI) as a complement to ultrasound (US) in the evaluation of cleft lip and palate (CLP), whether isolated or in association with syndromic conditions.

Materials and methods

We enrolled 24 pregnant women (27 fetuses) (mean gestational age 23.7 weeks) with a level-two US diagnosis of cleft lip (CL) or CLP with or without associated central nervous system (CNS) or facial-bone anomalies. All individuals underwent a fetal MRI examination to study the facial skeleton, CNS and fetal body. For each fetus, the main anatomical facial landmarks and biometric parameters [anteroposterior diameter (APD), biparietal diameter (BPD), inferior facial angle (IFA), frontomaxillary angle (FMA), bi-orbital diameter (BOD), intraorbital diameter (IOD)] were measured.

Results

Twenty-five of 27 fetuses had a US diagnosis of CL or CLP. MRI confirmed the diagnosis in 16/25 fetuses and added information about the extent of the cleft and the degree of involvement of the anterior and posterior palate in 8/25 fetuses. MRI ruled out the diagnosis in 1/25 fetuses and identified an alteration of the parameters IFA, FMA and IOD in 6/24 fetuses.

Conclusions

In the study of CLP fetal, MRI is able to define the degree of involvement of the posterior palate and the lateral extent of the cleft with higher diagnostic accuracy than US. Furthermore, MRI provides a complete study of the fetal head and biometric development of the facial bones, thus enabling early detection of potential syndromic conditions.     

Fetal MRI as complement to US in the diagnosis and characterization of anomalies of the genito-urinary tract

The purpose of this study is to compare the accuracy of prenatal ultrasound (US) and prenatal magnetic resonance imaging (MRI) in the diagnosis and characterization of congenital abnormalities of the genito-urinary tract and to determine if the additional information obtained by MRI may influence the management of the fetus.We retrospectively evaluate 15 cases of congenital genito-urinary tract anomalies detected by prenatal US and with echographic inconclusive diagnosis. We compare the MRI findings with the US findings and the final diagnosis, obtained from neonatal outcomes, imaging studies and pathology records. Fetal US diagnosis was correct in 9 cases (60%) and MRI in 13 cases (86.7%). Prenatal MRI revealed additional information to US in 9 cases (60%), which modified the initial US diagnosis in 5 cases (33.3%) and changed the therapeutic approach in 5 fetuses (33.3%). Fetal MRI was better than US in cases of oligoamnios and in fetuses with genito-urinary pathology concerning the pelvic and perineum region. We believe that MRI should be considered as a complementary diagnostic method in cases of echographic suspicion of congenital pathology of the genito-urinary tract and inconclusive prenatal US.     

Fetal central nervous system biometry on MR imaging

OBJECTIVE: We sought to compare the biometry of the fetal head on MR imaging with sonographic measurements in fetuses with and without suspected central nervous system abnormalities. MATERIALS AND METHODS: Blinded retrospective measurements of biparietal diameter, head circumference, and cerebellar width obtained on MR imaging were assigned a gestational age on the basis of median sonographic measurements and compared with sonographic and clinical assignment of gestational age in fetuses with no central nervous system abnormalities. In fetuses with central nervous system abnormalities, the same MR measurements were compared with sonographic measurements obtained within 1 week. Single-shot fast spin-echo sequences were obtained. Pearson's product moment correlation coefficients and paired sample t tests were performed. RESULTS: In 22 fetuses with no suspected central nervous system abnormalities, significant correlation was seen in the assignment of gestational age by MR measurements and sonographic gestational age. In 25 fetuses with central nervous system abnormalities, significant correlation was also seen between biparietal diameter and head circumference measurements. The mean biparietal diameter on MR imaging was greater than on sonography in those fetuses with central nervous system abnormalities (p = 0.038). CONCLUSION: MR imaging measurements of biparietal diameter, head circumference, and cerebellar width are strongly correlated to gestational age in fetuses without central nervous system abnormalities. Significant correlation is found between MR imaging and sonographic measurements of biparietal diameter and head circumference in fetuses with central nervous system abnormalities. Larger biparietal diameter measurements were seen with MR imaging than with sonography in the abnormal group. Fetal central nervous system biometry can be performed as part of the MR imaging evaluation of the fetal central nervous system.     

Role of fetal MRI in the diagnosis of cerebral ventriculomegaly assessed by ultrasonography

Purpose

To evaluate the additional diagnostic value of fetal MRI to evaluate cerebral ventriculomegaly assessed by ultrasonography (US) for the possibility to change the diagnosis, the counseling and the management of pregnancy.

Materials and Methods

From february 2006 to october 2008, we studied 55 pregnant women by fetal MRI (mean age 28 years), 4 with twin pregnancy, for a total of 59 fetuses with mean gestational age of 27 weeks. The number of fetuses affected by ventriculomegaly assessed by US was 55. All fetuses had a US diagnosis of ventriculomegaly: 29 fetuses with isolated ventriculomegaly and 26 fetuses with ventriculomegaly associated with CNS (central nervous system) abnormalities (18) and with no CNS abnormalities (8).

Results

The findings showed that the two techniques are substantially in agreement in defining the degree of VM, with the exception of some cases in which the disagreement could be attributed to the possible progression of the dilatation between the US and MRI examinations, which sway between two days and two weeks. We proved a low correlation between US and MRI in the evaluation of ventriculomegaly associated either with CNS or non-CNS anomalies: in fact while fetal MRI detected 26/55 (47,3%) VM associated with CNS anomalies, US demonstrated only 18/55(32,7%). Referring to VM associated with non-CNS anomalies, MRI diagnosed 10/55 cases (18,2%) compared to 8/55 fetuses (14,5%) showed by US.

Conclusions

Our experience demonstrated that fetal MRI has an important role as adjunctive tool to sonography in the evaluation of cerebral ventriculomegaly for the additional informations given to parents and for the possibility to change the diagnosis, the counseling and the management of pregnancy.     

FIRM序列在胎儿异常诊断中的应用价值

目的 评价快速反转恢复运动抑制序列(FIRM)在胎儿病变诊断中的价值.资料与方法 对45例21～39周异常胎儿行FIRM及快速稳态进动采集序列(FIESTA)扫描,将其诊断结果与产前超声、(引)产后所见或病理结果进行比较.结果 45例胎儿病变分别为中枢神经系统异常(CNS)4例,FIRM确定了胎儿颅内出血诊断;胸部异常6例,FIRM显示了先天性肺囊腺瘤样畸形(CCAM)、先天性膈疝(CDH)的信号特点;腹部异常25例,FIRM显示了腹部囊性病变、部分脐部异常(脐膨出、腹裂)、肠梗阻、肝囊肿、腹部占位的信号特点;泌尿系统异常6例,FIRM显示了多囊肾的信号特点;其他异常4例,FIRM显示了腹股沟斜疝及骶尾部畸胎瘤的信号特征.结论 FIRM序列作为FIESTA序列的补充,对诊断胎儿病变有重要作用.     

Increased renal parenchymal echogenicity in the fetus: importance and clinical outcome

Pre- and postnatal ultrasound (US) findings and clinical course in 19 fetuses (16-40 menstrual weeks) with hyperechoic kidneys (renal echogenicity greater than that of liver) and no other abnormalities detected with US were evaluated to determine whether increased renal parenchymal echogenicity in the fetus indicates renal disease. Four infants (21%) were healthy at birth and had normal postnatal sonograms. Another 10 infants (53%) survived, but abnormalities were found at neonatal US. Postnatal diagnoses in these 10 neonates included unilateral renal dysplasia (n = 3), unilateral multicystic dysplastic kidney and a contralateral hyperechoic kidney (n = 2), hydronephrosis (n = 2), and renal abnormalities of unknown type (n = 3). Five fetuses with either infantile polycystic kidney disease (n = 4) or bilateral multicystic dysplasia (n = 1) did not survive. Oligohydramnios was predictive of a poor prognosis. Hyperechoic renal parenchyma in the fetus was associated with sonographic or functional abnormalities in 15 of 19 cases (79%) and a 74% survival rate.     

Fast MR imaging of fetal central nervous system abnormalities

PURPOSE: To evaluate with respect to gestational age (GA) the effect of magnetic resonance (MR) imaging on changes in diagnosis, patient counseling, and case management regarding fetuses suspected of having central nervous system (CNS) anomalies. MATERIALS AND METHODS: The authors compared images from 242 ultrasonographic (US) studies and 242 MR imaging studies of the CNS in 214 fetuses. Reference standards of postnatal physical examination, imaging, surgical, and autopsy findings were available in 171 (79.9%) fetuses. Referring physicians were surveyed on how MR imaging findings changed patient counseling or case management. Outcomes were compared with respect to GA. Statistical tests used were the Fisher exact test, Student t test, and analysis of variance. RESULTS: Confirmatory US findings were normal in 69 fetuses. MR imaging findings changed diagnosis in 46 of 145 (31.7%) fetuses with abnormal US findings. The mean GA of 72 of 145 fetuses with changes in maternal counseling (25.9 weeks) was significantly greater than that in 73 of 145 fetuses without changes in maternal counseling (22.6 weeks, P <.01). The mean GA of the 46 fetuses with changes in diagnosis (26.3 weeks) was significantly greater than that of the 99 fetuses with no major change in diagnosis (23.3 weeks, P <.01). There were 27 of 145 changes in case management, with no significant difference in mean GA of fetuses with and those without changes in case management. In fetuses with abnormal US findings, MR images were used to decide to terminate the pregnancy (n = 13; mean GA, 20.1 weeks), continue the pregnancy (n = 4; mean GA, 19.2 weeks), direct the mode and/or location of delivery (n = 5; mean GA, 30.5 weeks), and direct perinatal care (n = 5; mean GA, 30.2 weeks). CONCLUSION: When a CNS anomaly is detected or suspected at US, MR imaging may demonstrate additional findings that can alter diagnosis and case management. Changes in management are GA dependent.     

Fetal MRI of the central nervous system: State-of-the-art

Prenatal ultrasonographic (US) examination is considered as the first tool in the assessment of fetal abnormalities. However, several large-scale studies point out that some malformations, in particular central nervous system (CNS) anomalies, are not well characterized through US. Therefore, the actual malformation severity is not always related to prenatal ultrasound (US) findings.Over the past 20 years, ultrafast Magnetic Resonance Imaging (MRI) has progressively increased as a prenatal 3rd level diagnostic technique with a good sensitivity, particularly for the study of fetal CNS malformations. In fact, CNS anomalies are the most common clinical indications for fetal MRI, representing about 80% of the total examinations.This review covers the recent literature on fetal brain MRI, with emphasis on techniques, safety and indications.     

快速MRI对胎儿中枢神经系统先天畸形的诊断价值与超声对照研究

目的 探讨快速MRI对胎儿中枢神经系统先天畸形的诊断价值并与超声（US）对照。方法 对48例孕妇产前行US和MRI检查，胎儿尸检及出生后随访检查证实中枢神经系统畸形22例，共26处。于US检查后3d内行胎儿颅脑脊柱及胸腹部MR扫描，并与US诊断结果和尸检及随访结果进行比较。结果 引产后尸检发现17处畸形，出生后随访检查证实9处畸形，共26处（无脑畸形6处、脊柱裂2处、脑膜脑膨出3处、先天性脑积水7处、前脑无裂畸形1处、脑穿通畸形3处、蛛网膜囊肿2处、脉络丛囊肿2处），US诊断24处，准确率92．3％（24／26），误、漏诊各1处，假阳性率3．8％（1／26），漏诊率为3．8％（1／26），MRI诊断23处，准确率88．5％，误诊1处，假阳性率3．8％（1／26），漏诊2处，漏诊率为7．7％（2／26）。比较2种方法差异无统计学意义（X^2=0．22，P〉0．05）。但快速MRI视野大，运动伪影少，组织分辨率高，能清楚显示脑灰白质、脑室系统、脑沟裂、蛛网膜下腔、脊柱等中枢神经系统解剖结构。结论 MRI对胎儿中枢神经系统先天畸形具有较高的诊断价值，可作为胎儿中枢神经系统先天畸形的一种重要的影像学诊断手段。     

MRI在显示胎儿中枢神经系统发育畸形中优势的初步探讨

目的:探讨MRI在检出胎儿中枢神经系统发育异常中的优势。方法:对42例超声检查发现胎儿异常的孕妇进行胎儿MRI检查(超声检查48h内完成),孕妇年龄22~35岁,胎龄16~35周。MRI检查采用半傅立叶单激励快速自旋回波(HASTE)序列获得T2WI,其中8例还行快速小角度激励(fastlowangleshot,FLASH)T1WI成像,4例行扩散加权成像。将超声结果、MRI与尸体解剖、手术或/和出生后随访MRI比较。结果:产前超声漏诊的病例共20例,MRI的T2WI仅漏诊1例。超声漏诊病例多数为脑实质及脊髓病变,且多种中枢神经系统发育畸形的声像图可表现相同,缺乏特异性。结论:MRI可直接显示脑实质、脊髓以及病变与脑脊髓的关系,在超声检查基础上进行胎儿磁共振成像,有助于弥补超声之不足,进一步完善、验证、甚至更正超声诊断。