速度向量成像技术评价妊娠期糖尿病胎儿左室心肌节段功能的探讨

目的 探讨VVI技术检测妊娠期糖尿病胎儿左室心肌6节段功能的临床意义.方法 采集98例妊娠期糖尿病胎儿和135例正常对照组胎儿四腔观,利用VVI软件测量左室各节段收缩期峰值速度(Vs)、舒张期峰值速度(Vd)、收缩期峰值应变(S)、收缩期应变率(SRs)和舒张期应变率(SRd).结果 233例胎儿中207例被成功分析.妊娠期糖尿病组胎儿Vs、Vd随孕周的增加而增大(P＜0.05),基底段、中间段、心尖段心肌的Vs、Vd依次逐渐减低(P ＜0.05).32+0周后妊娠期糖尿病胎儿Vs、28+0周后Vd、24+0周后S、SRs、SRd均较相应的正常胎儿组减低(P＜0.05).结论 VVI技术可以检测妊娠期糖尿病胎儿左室长轴6节段心肌功能的变化.

Abstract：

Objective To investigate the clinical value of velocity vector imaging in the assessment of regional left ventricular longitudinal myocardial function in fetuses with gestational diabetes mellitus (GDM). Methods Digital dynamic four-chamber views of 98 fetuses with GDM and 135 normal fetuses were collected and analyzed using velocity vector imaging. The regional tissue velocity, strain and strain rate of the interventricular septum and left lateral wall were measured in systole and diastole. Results Two hundred and seven of 233 cases were analyzed successfully. Systolic velocity(Vs) and diastolic velocity(Vd)were age-dependent, Vs and Vd were both gradually decreased from the basal segment to the apical segment in the left ventricle( P ＜0. 05). The Va after 32+0 weeks and Vd after 28+0 weeks and systolic strain(S),systolic strain rate(SRs) and diastolic strain rate(SRd) in left ventricle of fetuses with GDM after 24+0weeks were obviously lower than the corresponding parameters of normal fetuses ( P ＜0. 05). Conclusions Velocity vector imaging can evaluate the fetal regional left ventricular longitudinal myocardial function.     

胎儿腹腔大血管异常与内脏异位畸形的关系研究

目的 探讨胎儿腹腔大血管异常与胎儿内脏异位的关系及以腹腔大血管异常作为产前超声标志筛查胎儿内脏异位畸形的价值.方法 在我院行产前系统超声检查的6532例孕妇,超声检查胎儿生长径线、腹腔大血管和脏器结构.以腹腔大血管异常的胎儿为研究对象.结果 产前超声共发现胎儿腹腔大血管异常45例,占0.7%.产后证实内脏异位综合征35例,完全性内脏反位7例,3例失访.腹腔大血管异常胎儿畸形总发生率、内脏异位综合征发生率、完全性内脏反位发生率高于腹腔大血管正常胎儿,差异有统计学意义(P＜0.001).Ⅰ型和Ⅱ型异常内脏异位综合征发生率高于Ⅲ型,差异有统计学意义(P＜0.001);Ⅰ型左侧异构发生率高,Ⅱ型右侧异构发生率高,差异有统计学意义(P＜0.001).结论 腹腔大血管异常胎儿均存在脏器的异位或反位;腹腔大血管观察方法 简单,可以作为产前筛查内脏异位畸形的有效超声标志.

Abstract：

Objective To investigate the relation between anormalities of fetal abdominal great vessels and heterotaxy, the clinical significance of screening fetal heterotaxy by the abnormalities of fetal abdominal great vessels. Methods 6532 fetuses from our hospital were scanned and the fetuses with abdominal great vessels abnormalities were included. Parameters of fetal growth, abdominal great vessels and anatomical survey were detected. Results Forty-five cases (0.7%) of fetal abdominal great vessels abnormalities were detected prenatally. Forty-two cases were confirmed postnatally, including 35 cases of heterotaxy syndrome and 7 cases of situs inversus totalis and 3 cases missed. The incidences of the abnormal fetus,heterotaxy syndrome and situs inversus totalis of the fetuses with abnormal abdominal great vessels were higher than that of the fetuses with normal abdominal great vessels, the differences were statistically significant( P＜ 0.001). The incidence of both type Ⅰ and type Ⅱ of the heterotaxy syndrome were significantly higher than that of type Ⅳ (P＜0.001). There was a high incidence of left isomerism in abnormal type Ⅰ and of right isomerism in abnormal type Ⅱ , the differences were statistically significant (P＜ 0.001). Conclusions Abnormal great vessels abnormalities have strong relations to heterotaxy and situs inversus which can be used as effective and simple indicator in screening heterotaxy syndrome.     

时间-空间相关成像技术对正常胎儿心脏大动脉空间角度的定量研究

目的 应用时间-空间相关成像(spatiotemporal image correlation,STIC)技术建立不同孕周胎儿心脏大动脉空间角度的正常参考值范围.方法 运用STIC采集352例孕20～38周正常胎儿的心脏三维数据,通过正交三平面模式测量标准四腔观与左室长轴观之间、左室长轴观与主肺动脉干观之间以及动脉导管弓观与主动脉弓观之间的角度.应用相关回归分析评价上述角度与孕周的相关性.结果 正常胎儿标准四腔观与左室长轴观的角度与孕周不相关(r=0.04,P=0.51),95%正常参考值范围为34.5°～56.7°.左室长轴观与主肺动脉干观之间以及动脉导管弓长轴观与主动脉弓长轴观之间的角度与孕周相关(r分别为-0.53、0.57,P＜0.001),回归方程分别为:Y=154-4.24X+0.05X2,Y=-20.8+2.65X-0.37X2.结论 STIC能定量测量20～38周胎儿心脏大动脉之间的角度并建立正常参考值范围,为产前筛查大动脉空间关系异常的先天性心脏病提供有价值的参考标准.

Abstract：

Objective To establish the reference ranges of the spatial angles among cardiac chambers and great vessels in second and third trimester fetuses measured by spatiotemporal image correlation (STIC).Methods Volume images of 352 normal fetuses from 20 to 38 weeks of gestation were recruited in the study.An off-line analysis of acquired volume datasets was carried out with multiplanar mode.Parameters measured included angles between:(1) the 4-chamber view and the left ventricular long axis view; (2) the left ventricular long axis view and main pulmonary artery; and (3) the ductal arch and aortic arch.The relationships between above-mentioned angles and gestational age were assessed by correlation and regression analysis.Results The angle between the 4-chamber view and the left ventricular long axis view (range:55.7° - 35.7°,mean:45.7° ± 5.12°) was uncorrelated with gestational age (r = 0.03,P = 0.51).In contrast,the angle between the left ventricular long axis view and main pulmonary artery,and the angle between the ductal arch and aortic arch were correlated with gestational age (P ＜ 0.001),and the correlation coefficient was - 0.53 and 0.57 respectively.The best-fit exponential curve regression equations of the angle between the left ventricular long axis view and main pulmonary artery was:Y = 154- 4.24X +0.05X2 ,and the angle between the ductal arch and aortic arch was:Y = - 20.8 + 2.65X - 0.37X2.Conclusions The angles among cardiac chambers and great arteries of fetuses from 20 to 38 weeks of gestation can be quantitatively measured by STIC.The reference ranges provide a reliable quantitative standard to estimate the spatial relationships of the cardiac large arteries of fetuses,which may be clinically useful in prenatal screening congenital heart disease.     

时间-空间相关成像技术对正常胎儿心脏大动脉空间角度的定量研究

Objective To establish the reference ranges of the spatial angles among cardiac chambers and great vessels in second and third trimester fetuses measured by spatiotemporal image correlation (STIC).Methods Volume images of 352 normal fetuses from 20 to 38 weeks of gestation were recruited in the study.An off-line analysis of acquired volume datasets was carried out with multiplanar mode.Parameters measured included angles between:(1) the 4-chamber view and the left ventricular long axis view; (2) the left ventricular long axis view and main pulmonary artery; and (3) the ductal arch and aortic arch.The relationships between above-mentioned angles and gestational age were assessed by correlation and regression analysis.Results The angle between the 4-chamber view and the left ventricular long axis view (range:55.7° - 35.7°,mean:45.7° ± 5.12°) was uncorrelated with gestational age (r = 0.03,P = 0.51).In contrast,the angle between the left ventricular long axis view and main pulmonary artery,and the angle between the ductal arch and aortic arch were correlated with gestational age (P ＜ 0.001),and the correlation coefficient was - 0.53 and 0.57 respectively.The best-fit exponential curve regression equations of the angle between the left ventricular long axis view and main pulmonary artery was:Y = 154- 4.24X +0.05X2 ,and the angle between the ductal arch and aortic arch was:Y = - 20.8 + 2.65X - 0.37X2.Conclusions The angles among cardiac chambers and great arteries of fetuses from 20 to 38 weeks of gestation can be quantitatively measured by STIC.The reference ranges provide a reliable quantitative standard to estimate the spatial relationships of the cardiac large arteries of fetuses,which may be clinically useful in prenatal screening congenital heart disease.     

胎儿半椎体的产前超声诊断

目的 探讨产前超声对胎儿半椎体的诊断价值.方法 回顾分析我院诊断的3例胎儿半椎体病例的产前二维及三维超声表现,并与产后超声检查、其他影像学检查及病理结果进行对照.结果 3例胎儿超声检查均可见脊柱形态改变,受累节段仅有一半的椎体.其中1例经出生后影像学证实,1例经尸检病理证实,1例尚在随访中.结论 胎儿半椎体具有特征性超声表现,不合并其他畸形时多数预后良好,仔细的中孕期超声检查有助于早期发现病变并给予适当的遗传咨询.

Abstract：

Objective To investigate the diagnostic value of prenatal ultrasonography in the fetal hemivertebra. Methods The ultrasonographic findings of three fetuses with hemivertebra diagnosed in our hospital were reviewed and compared with those of postnatal ultrasonography,other image modalities,and autopsy. Results In all fetuses,a distortion of the spine was observed where only one half of the vertebra could be identified. The parents opted for termination of the pregnancy in one case and the deformity was confirmed by autopsy. The other two fetuses were delivered and in one fetus the diagnosis was confirmed by radiological assessment. Conclusions Hemivertebra can be diagnosed accurately by second-trimester ultrasonography. The prognosis is mostly favorable when no other anomalies are associated. Meticulous examination may disclose the lesion and help decide the fate of pregnancy.     

孕DOWN综合征胎儿妇女血浆游离胎儿DNA浓度定量研究

Objective To investigate the application of real-time quantitative PCR in quantification of cell-free fetal DNA maternal plasma in patients bearing fetuses affected with DOWN syndrome. Methods Cell-free fetal DNA in maternal serum was isolated from 30 samples(7 male DOWN syndrome fetal ,3 female DOWN syndrome fe-tal,14 male euploid fetal,6 female euploid fetal). Cell-free fetal DNA levels in maternal serum were measured using real-time quantitative PCR using SRY as marker. Results The median cell-free fetal DNA levels in pregnant carry-ing male fetuses(n=7) and the controls (pregnant carrying male euploid fetuses,n=14)were 318.03±96.74 ge-nome-equivalents/ml and 154.40±39.43 genome-equivalents/ml of maternal serum,respectively (t=3.33,P=0.004 ),which was o in women with female fetuses. Conclusion The cell-free fetal DNA levels in pregnant women with DOWN syndrome fetuses are higher than that in pregnant women with normal fetuses.     

孕DOWN综合征胎儿妇女血浆游离胎儿DNA浓度定量研究

Objective To investigate the application of real-time quantitative PCR in quantification of cell-free fetal DNA maternal plasma in patients bearing fetuses affected with DOWN syndrome. Methods Cell-free fetal DNA in maternal serum was isolated from 30 samples(7 male DOWN syndrome fetal ,3 female DOWN syndrome fe-tal,14 male euploid fetal,6 female euploid fetal). Cell-free fetal DNA levels in maternal serum were measured using real-time quantitative PCR using SRY as marker. Results The median cell-free fetal DNA levels in pregnant carry-ing male fetuses(n=7) and the controls (pregnant carrying male euploid fetuses,n=14)were 318.03±96.74 ge-nome-equivalents/ml and 154.40±39.43 genome-equivalents/ml of maternal serum,respectively (t=3.33,P=0.004 ),which was o in women with female fetuses. Conclusion The cell-free fetal DNA levels in pregnant women with DOWN syndrome fetuses are higher than that in pregnant women with normal fetuses.     

孕DOWN综合征胎儿妇女血浆游离胎儿DNA浓度定量研究

Objective To investigate the application of real-time quantitative PCR in quantification of cell-free fetal DNA maternal plasma in patients bearing fetuses affected with DOWN syndrome. Methods Cell-free fetal DNA in maternal serum was isolated from 30 samples(7 male DOWN syndrome fetal ,3 female DOWN syndrome fe-tal,14 male euploid fetal,6 female euploid fetal). Cell-free fetal DNA levels in maternal serum were measured using real-time quantitative PCR using SRY as marker. Results The median cell-free fetal DNA levels in pregnant carry-ing male fetuses(n=7) and the controls (pregnant carrying male euploid fetuses,n=14)were 318.03±96.74 ge-nome-equivalents/ml and 154.40±39.43 genome-equivalents/ml of maternal serum,respectively (t=3.33,P=0.004 ),which was o in women with female fetuses. Conclusion The cell-free fetal DNA levels in pregnant women with DOWN syndrome fetuses are higher than that in pregnant women with normal fetuses.     

孕DOWN综合征胎儿妇女血浆游离胎儿DNA浓度定量研究

Objective To investigate the application of real-time quantitative PCR in quantification of cell-free fetal DNA maternal plasma in patients bearing fetuses affected with DOWN syndrome. Methods Cell-free fetal DNA in maternal serum was isolated from 30 samples(7 male DOWN syndrome fetal ,3 female DOWN syndrome fe-tal,14 male euploid fetal,6 female euploid fetal). Cell-free fetal DNA levels in maternal serum were measured using real-time quantitative PCR using SRY as marker. Results The median cell-free fetal DNA levels in pregnant carry-ing male fetuses(n=7) and the controls (pregnant carrying male euploid fetuses,n=14)were 318.03±96.74 ge-nome-equivalents/ml and 154.40±39.43 genome-equivalents/ml of maternal serum,respectively (t=3.33,P=0.004 ),which was o in women with female fetuses. Conclusion The cell-free fetal DNA levels in pregnant women with DOWN syndrome fetuses are higher than that in pregnant women with normal fetuses.     

孕DOWN综合征胎儿妇女血浆游离胎儿DNA浓度定量研究

Objective To investigate the application of real-time quantitative PCR in quantification of cell-free fetal DNA maternal plasma in patients bearing fetuses affected with DOWN syndrome. Methods Cell-free fetal DNA in maternal serum was isolated from 30 samples(7 male DOWN syndrome fetal ,3 female DOWN syndrome fe-tal,14 male euploid fetal,6 female euploid fetal). Cell-free fetal DNA levels in maternal serum were measured using real-time quantitative PCR using SRY as marker. Results The median cell-free fetal DNA levels in pregnant carry-ing male fetuses(n=7) and the controls (pregnant carrying male euploid fetuses,n=14)were 318.03±96.74 ge-nome-equivalents/ml and 154.40±39.43 genome-equivalents/ml of maternal serum,respectively (t=3.33,P=0.004 ),which was o in women with female fetuses. Conclusion The cell-free fetal DNA levels in pregnant women with DOWN syndrome fetuses are higher than that in pregnant women with normal fetuses.     

胎儿小脑延髓池增宽的产前超声与MRI对比研究

目的探讨胎儿小脑延髓池（枕大池）增宽病例的产前超声诊断价值。 方法回顾性收集2017年10月至2019年10月北京协和医院因产前筛查发现小脑延髓池增宽（＞10 mm）的进行系统超声检查的胎儿73例,所有病例均在超声检查后行胎儿颅脑MRI检查,并对检查结果进行对比,计算超声诊断符合率。 结果73例胎儿小脑延髓池增宽胎儿经胎儿颅脑MRI检查最终提示Dandy-Walker畸形4例,小脑蚓部发育不良2例,小脑发育不良4例,颅后窝蛛网膜囊肿8例,Blake's囊肿1例,单纯小脑延髓池增宽54例。与胎儿颅脑MRI检查结果比较,产前超声诊断颅后窝异常的符合率为84.9%（64/73）。本组中MRI诊断合并其他颅内异常者17例（23.3%,17/73）,其中超声诊断13例（76.5%,13/17）。 结论与MRI相比,超声对胎儿小脑延髓池增宽相关疾病的诊断准确率较高。对于Dandy-Walker畸形、小脑发育不良等相对较严重的疾病,超声声像图特点典型,不易漏误诊,对于小脑蚓部发育不良、Blake's囊肿、颅后窝蛛网膜囊肿等疾病需仔细鉴别。     

Sonography of fetal Dandy-Walker malformation: a reappraisal.

Thirty-four cases of fetal Dandy-Walker malformation recognized in utero with ultrasound between 16 and 37 weeks' gestation are reported. In each case a qualitative examination of the posterior fossa structures was performed, including the cerebellar hemispheres, cerebellar vermis, fourth ventricle and cisterna magna. In each case, the transverse cerebellar diameter and the depth of the cisterna magna were measured in a standard transcerebellar view of the fetal brain. The atrial width of the lateral ventricles was also assessed. The transverse cerebellar diameter was abnormal in 15 cases, the cisterna magna depth was abnormal in 33, and the atrial width was abnormal in 30. It is concluded that measurement of the transverse cerebellar diameter is unreliable in predicting fetal Dandy-Walker malformation. Measurements of the cisterna magna and atrium seem to be more valuable, although the real sensitivity remains unclear. In pregnancies at risk for fetal Dandy-Walker malformation, the sonographic examination should not be limited to the cerebral ventricles and transcerebellar view but should include a detailed evaluation of all the different anatomical components of the posterior fossa, especially the fourth ventricle and inferior cerebellar vermis.     

Clinical significance of isolated enlargement of the cisterna magna (> 10 mm) on prenatal sonography.

Enlargement of the cisterna magna has been reported to be associated with aneuploidy. In prior studies of cisterna magna enlargement, however, those fetuses with abnormal chromosomes have had other sonographic abnormalities in addition to a large cisterna magna. Our goal was to assess the clinical significance of the isolated finding of a cisterna magna measuring more than 10 mm in anteroposterior dimension on a prenatal sonogram. We retrieved all prenatal sonograms performed at our institution between 1989 and 1996 in which an enlarged cisterna magna was the only sonographic abnormality. Cases were included in our study if the cisterna magna measured more than 10 mm in the appropriate plane and the fetal survey was otherwise normal, including normal cerebellar size and morphology. Pregnancy outcome and postnatal follow-up were obtained in each case. Fifteen cases comprised our study population. In all 15 fetuses, the enlarged cisterna magna was first seen in the third trimester (gestational age range, 26 to 37 weeks). The cisterna magna ranged from 11 to 19 mm in size (mean, 12.9 mm). All 15 pregnancies resulted in phenotypically normal liveborn infants. All the mother and infants had short hospital stays (1 to 4 days), and the infants were normal at discharge. Longer follow-up was available in eight cases (range, 2 to 69 months), and all eight of these infants were normal. Our results suggest that isolated enlargement of the cisterna magna to more than 10 mm is associated with normal pregnancy and neonatal outcome.     

Linear echoes in the fetal cisterna magna.

Linear echoes are seen in the fetal cisterna magna, (CM) on obstetrical sonography. These echoes often are paired, joining as they descend toward the base of the posterior fossa. Histologic correlation suggests that these echoes are most consistent with dural folds, which likely represent the inferior attachment of the falx cerebelli. A prospective series of 322 prenatal studies was performed in which the sonographer was asked to look for the linear echoes in the cisterna magna and image them. Linear echoes were identified in 84% of all fetuses studied. Identification of these echoes was dependent on CM size, in that they were seen less commonly when the CM was less than 3 mm in diameter. However, their identification was not dependent on gestational age. In addition, 18 fetuses with Dandy Walker cyst or Dandy Walker variant were evaluated and in 16 linear echoes were not seen. We conclude that recognition of normal anatomy within the fetal brain, specifically the fetal CM, is helpful for identifying abnormalities in the size of the CM, whether large or small.     

The cisterna magna septa: vestigial remnants of Blake's pouch and a potential new marker for normal development of the rhombencephalon.

OBJECTIVE: The purpose of this study was to show the normal sonographic embryologic anatomy of the cisterna magna septa, fourth ventricle, and cerebellar vallecula at various stages of development and our experience with their variable appearance in multiple planes and to discuss the probable relationship between the cisterna magna septa, Dandy-Walker continuum, mega cisterna magna, and persistent Blake's pouch. METHODS: Retrospective and prospective selection of examples of cisterna magna septa was performed over approximately a 12-month period. Standard and nonstandard imaging planes were adopted as necessary. RESULTS: The septa are typically seen inferoposterior to the cerebellar vermis, usually straight and parallel, arising at the cerebellovermian angle and coursing posteriorly to the occipital bone. The cisterna magna septa become contiguous with the roof of the fourth ventricle inferior to the cerebellar vermis. The cerebrospinal fluid space enclosed between the cisterna magna septa is in direct contiguity with the fourth ventricle via the vallecula and is always completely anechoic because it develops intra- and not extra-axially. CONCLUSIONS: We propose that the cisterna magna septa represent the walls of Blake's pouch, a phylogenetic vestigial structure observed during ontogeny. Additionally, our observations support current opinion that a persistent Blake's pouch and mega cisterna magna represent (less severe) abnormalities within the Dandy-Walker continuum. The cisterna magna septa therefore are a marker of normal development of the roof of the rhombencephalon. Deviation from their normal appearances should prompt a closer assessment for associated abnormalities of the cerebellum, vermis, and brain stem by additional imaging in orthogonal planes with either sonography or magnetic resonance imaging.     

Rotation of the vermis as a cause of enlarged cisterna magna on prenatal imaging.

OBJECTIVES: Dandy-Walker complex is a continuum of developmental anomalies of the posterior fossa which includes vermian rotation. However, vermian rotation alone may be benign. The aim of this study was to describe our experience with sagittal-plane prenatal ultrasound in the diagnosis of rotation of the vermis in cases of suspected enlarged cisterna magna on routine antenatal imaging, and to describe the follow-up of these patients. METHODS: Seven women, who were referred to our ultrasound unit for evaluation of an enlarged fetal cisterna magna and suspected agenesis of the vermis on axial-plane imaging, underwent further multiplanar studies of the posterior fossa and measurements of the vermis. RESULTS: The mean maternal age was 27 (range, 20-33) years and the mean gestational age at diagnosis was 19.5 (range, 18-31) weeks. The standard axial plane image showed a 'direct communication' between the cisterna magna and the fourth ventricle. In the mid-sagittal plane, the vermis was clearly delineated, with posterosuperior rotation. Vermis size was within normal limits for gestational age in all cases. Findings were confirmed by prenatal magnetic resonance imaging (MRI) in two cases and postnatal MRI and/or sonography in five. During a mean follow-up of 4.5 (range, 1-7.5) years, all children developed normally, with no neurological complications. CONCLUSION: The finding of an enlarged cisterna magna on standard- (axial-)plane ultrasound should be evaluated further in the sagittal plane to determine whether the cause is rotation of a normal vermis. This may spare patients unnecessary tests, anxiety and, in some cases, pregnancy termination.     

胎儿脑中线异常对产前诊断胎儿颅内发育异常的价值探讨

目的回顾性分析胎儿脑中线异常病例的产前声像图、胎儿MRI等影像学表现，探讨产前超声、MRI及其他辅助检查方法在产前诊断和鉴别诊断中的作用。方法应用中晚孕系统超声检查检出胎儿脑中线异常如大脑镰缺如、透明隔缺如、侧脑室及丘脑融合、第三脑室扩张、小脑蚓部缺如、小脑延髓池增宽、脑中线囊肿、脑中线偏移等，同时检出其他颅内、外结构异常，必要时加用MRI检查、染色体核型分析等进行进一步的诊断及鉴别诊断。结果产前超声共检出脑中线异常胎儿14例，根据产前超声、MRI、染色体分析结果诊断为前脑无裂畸形3例，其中2例为18号染色体异常；脑积水4例，其中2例合并其他异常；小脑延髓池增宽4例，其中1例为经典型Dandy-Walker综合征，2例合并心脏异常，1例随访至1岁未见异常；脑中线囊肿2例；脑实质出血致脑中线偏移1例。结论脑中线异常是多种胎儿颅内病变的主要超声表现之一，通过超声观察分析不同脑中线异常的特征、并结合其他颅内外伴发表现，以及MRI、染色体核型分析等结果，有助于对胎儿颅内结构发育异常进行更好的诊断和鉴别诊断。     

50例胎儿颅后窝异常的超声诊断及预后分析

目的分析胎儿颅后窝异常超声诊断准确性及预后表现。 方法对2015年8月至2018年3月于首都医科大学附属北京妇产医院超声检查提示颅后窝异常50例胎儿的二维和三维超声图像进行分析,总结不同种类颅后窝异常胎儿产前超声声像图特点,与胎儿颅脑磁共振检查、出生后检查及随访结果对照,分析超声诊断胎儿颅后窝异常的准确性。 结果50例颅后窝异常胎儿经三维超声检查最终提示Dandy-Walker畸形8例,小脑蚓部发育不良8例,Blake′s陷窝囊肿6例,小脑发育不良5例,颅后窝蛛网膜囊肿9例,单纯小脑延髓池增宽13例,小脑蚓部形态异常1例。其中26例胎儿颅脑磁共振检查证实23例与产前三维超声提示诊断相符合,2例与产前三维超声提示诊断不符合,1例胎儿颅脑磁共振检查对超声诊断进行了补充。妊娠结局：50例胎儿经超声及颅脑磁共振检查后,24例孕妇选择终止妊娠（5例失访）;26例孕妇继续妊娠（小脑蚓部发育不良和小脑发育不良各1例,Blake′s陷窝囊肿4例,颅后窝蛛网膜囊肿7例,单纯性小脑延髓池增宽13例）。其中1例小脑蚓部发育不良胎儿出生后诊断为Joubert综合征,余25例胎儿预后良好。诊断准确性：与胎儿颅脑磁共振及出生后检查随访结果相比,产前二维超声诊断准确率为62.2%（28/45）,产前三维诊断准确率为88.9%（40/45）。 结论不同种类颅后窝异常（Dandy-Walker畸形、小脑蚓部发育不良、Blake′s陷窝囊肿）产前二维超声图像上表现相似,产前三维超声对颅后窝异常疾病分类及诊断有重要意义。     

超声诊断和鉴别诊断胎儿颅后窝池畸形

胎儿颅后窝池畸形主要包括Dandy-Walker综合征、Blake囊肿和颅后窝蛛网膜囊肿,其中Dandy-Walker综合征又包括典型的Dandy-Walker畸形、小脑蚓部发育不良(Dandy-Walker变异型)及巨大枕大池。各种颅后窝池畸形的预后差异较大,约90%Blake囊肿和巨大枕大池胎儿神经系统发育正常,而Dandy-Walker畸形和小脑蚓部发育不良胎儿中,约50%伴神经系统发育异常。各类型颅后窝畸形超声表现相似,鉴别诊断困难,应用二维超声与三维超声相结合,可获得理想的胎儿头部正中矢状切面,对鉴别诊断胎儿颅后窝池畸形帮助极大。     

Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities.

Posterior fossa abnormalities are sonographically diagnosable in the fetus. Anomalies of this region include Dandy-Walker malformation, enlarged cisterna magna, and arachnoid cyst. Despite prenatal diagnosis, the uncertainties related to natural history and neurodevelopmental outcome in survivors make patient counseling difficult. The purposes of this study were to determine the accuracy of prenatal diagnosis of these lesions and elucidate long-term neurodevelopmental outcome in survivors in prenatally diagnosed posterior fossa abnormalities. Fifteen cases of posterior fossa abnormalities were reviewed. Antenatal diagnoses of Dandy-Walker malformation was made in 13 of these cases, arachnoid cyst in one case, and enlarged cisterna magna in one case. Hydrocephalus was present in 66% of patients. The sonographic diagnosis was concordant with the pathologic or neonatal radiologic diagnosis in 13 of 15 cases. Seven fetuses (47%) exhibited additional cranial or extracranial anomalies. A karyotypic abnormality (trisomy 18) was found in one of 15 cases of posterior fossa abnormalities. Neurodevelopmental delay was present in 80% of survivors with follow-up study to 4 years of age. Prenatal diagnosis of posterior fossa abnormalities is highly accurate, yet the differential diagnosis can be challenging. Cognitive and psychomotor developmental delays remain commonplace despite early diagnosis and treatment. The approach with families in cases of prenatal diagnosis of posterior fossa abnormalities should include a search for additional central nervous system and extra-central nervous system anomalies in the fetus and counseling of parents regarding potential adverse outcome for survivors.