21-三体综合征胎儿产前超声诊断价值(附152例分析)

目的通过对152例21-三体综合征胎儿产前超声征像分析,探讨超声诊断胎儿21-三体综合征的临床价值。方法回顾性分析152例经本院产前诊断中心确诊的21-三体综合征胎儿,分析其不同孕期及不同级别产前超声特点。结果本文早孕超声筛查49例,超声异常45例(91.84%,45/49),主要征像是颈项透明层增厚35例(71.43%,35/49),鼻骨发育异常28例(57.14%,28/49);中孕胎儿畸形筛查61例(包括15例同时接受早、中孕两次筛查),超声异常47例(77.05%,47/61),主要征像包括鼻骨发育异常21例(34.43%,21/61),颈项软组织厚度增厚20例(32.79%,20/61),左心室强光斑18例(29.51%,18/61),小指第二指节发育不良12例(19.67%,12/61),股骨及肱骨短小11例(18.03%,11/61),上述超声软指标可合并以下结构畸形,包括心脏畸形8例(13.11%,8/61),十二指肠梗阻4例(6.56%,6/61),颈部淋巴水囊瘤1例(1.64%,1/61)。Ⅰ级一般产前超声检查57例,超声异常6例(10.53%,6/57)。早孕筛查组超声阳性率与中孕筛查组差别有统计学意义,P0.05,早孕筛查组、中孕筛查组超声阳性率分别与Ⅰ级一般超声组比较,差别有统计学意义,P0.001。结论 21-三体综合征产前超声表现以发现多发软指标为主,部分病例可合并结构畸形,规范化产前超声筛查可提高21-三体胎儿诊断率,降低21-三体出生率。     

早中孕产前超声检查在染色体非整倍体异常胎儿中的诊断价值

目的：探讨早中孕期产前超声检查在染色体非整倍体异常胎儿中的诊断价值。方法对2014年3月～2015年10月在我院经羊水细胞、脐血细胞及绒毛细胞染色体核型分析诊断为非整倍体异常的38例胎儿早中孕期（11～28周）产前超声异常声像图进行总结分析。结果38例羊水细胞染色体核型分析确诊为非整倍体异常的胎儿中超声显示异常32例（84．2％,32／38）,包括21-三体17例（17／23）、18-三体11例（11／11）、13-三体2例（2／2）,45,X 2例（2／2）。其中单发畸形10例（31．2％,10／32）,多发畸形12例（37．6％,12／32）,仅表现为超声软指标10例（31．2％,10／32）。18-三体、13-三体、45,X胎儿均有超声结构异常,18-三体胎儿中8例表现为超声结构异常合并软指标异常。21-三体胎儿中10例,仅表现为超声软指标异常,7例表现为超声结构异常合并软指标异常。38例非整倍体异常胎儿中以心脏畸形检出例数居多（31．5％,12／38）,而颈部淋巴水囊瘤是45,X胎儿的典型超声表现。结论非整倍体异常胎儿常伴有异常的超声声像图表现,部分还有相应的典型超声畸形谱和超声软指标,早中孕期产前超声检查作为非侵入性检查技术对于非整倍体异常胎儿的诊断有重要价值。     

产前超声诊断胎儿眼部异常的声像图特征及临床价值

目的探讨产前超声诊断胎儿眼部异常的声像图特征及临床价值。方法回顾性分析36例产前超声诊断为胎儿眼部异常的临床资料,总结其声像图特征。结果 40 000例胎儿(妊娠11～40周)中共检出眼部异常36例(0.09%),其中先天性白内障21例(双侧16例,单侧5例),小眼畸形3例,独眼2例,无眼1例,眼距异常9例(眼距过宽3例,眼距过窄6例);其中14例合并其他畸形。引产后病理结果证实31例与产前超声诊断相符,5例失访。结论超声检查能直观显示胎儿眼部的结构,胎儿眼部异常的声像图特征明显,超声筛查11～40周孕期胎儿眼部异常具有无可比拟的优势。     

产前超声诊断胎儿肢体-体壁综合征

目的 探讨产前超声诊断胎儿肢体-体壁综合征(LBWC)的价值,提高对LBWC的认识。资料与方法 回顾性分析经产前超声诊断的20例胎儿LBWC的声像图表现及随访结果,分析胎儿LBWC的超声声像图特点。结果 20例LBWC胎儿均有较大的体壁缺损及脊柱异常,其中16例腹壁缺损,4例胸腹壁缺损;脊柱异常中8例脊柱侧凸畸形,2例后凸畸形,3例扭曲成角,1例扭曲呈S形,6例椎体排列紊乱;脐带异常16例,11例脐带过短,1例无脐带,单脐动脉7例(3例伴脐带过短);肢体异常5例,左下肢缺如2例,左上肢缺如1例,左足内翻、右足稍内翻1例,左足足尖下垂1例。结论 产前超声检查可以及时发现并诊断胎儿LBWC,为临床早期干预提供依据。     

产前超声诊断胎儿肢体-体壁综合征的价值

目的探讨产前超声特别是中孕早期超声诊断胎儿肢体-体壁综合征的价值。方法回顾性分析产前超声诊断的6例胎儿肢体-体壁综合征的超声表现及随访结果,分析其声像图特点。结果 6例诊断的肢体-体壁综合征的胎儿4例于11~14周诊断,占66.7%,2例分别于20周及24周系统超声检查时发现。均有较大的腹壁缺损、脊柱及脐带异常。其中5例脊柱侧凸畸形,1例脊柱呈扭曲状,1例脐带显示不满意,1例无脐带,4例脐带较短而细,3例合并肢体异常,3例伴有单脐动脉,2例NT增厚(分别为0.4cm;0.6cm)。结论产前超声特别是中孕早期超声是诊断胎儿肢体-体壁综合征最有价值的检查方法,对早期临床处理有重要意义。     

67例颈后皮肤皱褶增厚胎儿产前诊断结果分析

 目的 探讨颈后皮肤皱褶厚度(nuchal fold, NF)增厚胎儿染色体异常的类型及分布,明确NF增厚的临床意义。方法 以≥14周胎儿NF≥6 mm为NF增厚诊断标准,回顾性分析2013-01至2016-12医院67例NF增厚胎儿的产前诊断临床资料,其中18~23⁺⁶周胎儿行羊膜腔穿刺,≥24周胎儿行超声引导下脐静脉穿刺,死胎在流产后取胎儿组织送检,分析胎儿标本的染色体核型及基因拷贝数变异结果。结果 67例NF增厚胎儿染色体异常发生率为13.4%(9/67),其中21-三体4例,18-三体2例,性染色体异常1例,病理性致病性基因拷贝数变异2例;孤立性NF增厚胎儿的染色体异常发病率为3%(1/33),显著低于综合征性NF增厚胎儿(23.5%,8/34)。结论 NF是胎儿染色体异常的重要指标,对于NF增厚的胎儿的产前诊断,除了常规检查核型以外,还需要重视检测基因拷贝数变异,特别是综合征性的NF增厚胎儿。     

产前超声对胎儿畸形的诊断价值

目的 探讨产前超声对胎儿畸形的诊断价值.方法 回顾分析27例胎儿畸形患者的临床资料和超声声像图特征,均通过临床分娩或引产证实.结果 27例胎儿畸形中,产前超声准确诊断25例,诊断符合率为92.59%.结论 产前超声检查方便易行,对产前胎儿畸形诊断具有重要的价值,是临床产前诊断的首选方法.     

超声诊断胎儿先天性消化道异常及腹壁缺损的价值

目的　评价超声诊断胎儿先天性消化道异常及腹壁缺损的价值。方法　对美国加州一产前诊断中心 5年中超声发现的13 6例消化道异常及 41例腹壁缺损的孕妇检查结果进行声像图特点分析。结果　发现 13 6例消化道异常中 ,食管闭锁 9例 ,十二指肠闭锁 19例 ,空肠闭锁 12例 ,强回声小肠 68例 ,胎粪性腹膜炎 19例 ,膈疝 9例。 41例腹壁缺损中 ,腹裂 11例 ,脐疝 18例 ,羊膜带综合征 12例 ,各类型有其特异声像图表现 ,其特征与其胚胎发育过程异常相关。结论　超声能准确地发现各种畸形 ,在诊断胎儿先天性消化道异常及腹壁缺损中有重要价值     

胎儿畸形的超声诊断分析

目的探讨产前超声诊断先天性胎儿畸形的价值。方法对经超声诊断的胎儿畸形54例进行分析。结果54例胎儿畸形中产前诊断与产后结果完全符合49例,漏诊5例,单发畸形47例,复合畸形7例,诊断符合率90．7％（49／54）。结论绝大多数先天性胎儿畸形形态改变较大,并具有典型的异常声像图特征。因此,产前常规超声检查是诊断先天性胎儿畸形的重要方法。能为临床尽早终止妊娠提供依据。     

产前超声对胎儿体蒂异常诊断价值研究

目的探讨产前超声对胎儿体蒂异常的诊断价值。方法回顾性分析解放军202医院2013—2016年收治的7例体蒂异常胎儿的临床资料,记录其超声特点与引产结果。结果产前超声显示,7例(100.0%)胎儿均存在腹壁缺损、脐带过短、脊柱异常(包括脊柱侧弯、后弯及脊柱裂),3例(42.9%)存在颅脑异常,5例(71.4%)存在肢体异常,4例(57.1%)存在羊水过少,4例(57.1%)存在其他异常(心脏、颜面、泌尿生殖系统畸形等)。7例(100.0%)胎儿均引产成功,且引产后证实与产前超声诊断结果一致。结论产前超声可有效诊断胎儿体蒂异常。     

Abnormal facial features and extremities in human trisomy syndromes: prenatal US appearance

Twelve cases of fetal trisomy syndromes are reported in which prenatal sonographic findings were highly suggestive of the chromosomal abnormality. The abnormal appearance on the sonogram led to karyotype studies in ten fetuses and to appropriate obstetrical management. The sonographic abnormalities pertained to the extremities and face of the fetus.     

Dandy-Walker variant: prenatal sonographic features and clinical outcome.

The Dandy-Walker variant is a less severe posterior fossa anomaly than the classic Dandy-Walker malformation. In 17 consecutive fetuses, the Dandy-Walker variant was diagnosed at sonography, and associated defects, karyotypic anomalies, and outcomes were evaluated. Four of the 17 fetuses (24%) had mild ventriculomegaly. Eight of the 17 (47%) had concurrent non-central nervous system (CNS) anomalies. Five fetuses (29%) had an abnormal karyotype (two with trisomy 18, one each with trisomy 13, 21, and 11q+) and associated sonographic anomalies. Six of the 17 fetuses (35%) died in utero or during the neonatal period, two are severely handicapped, and the other nine are developing normally at ages 4 months to 4 years. Six of the nine normally developing infants (53%) lacked non-CNS sonographic findings. Because the prognosis is uncertain for an infant born with the prenatal diagnosis of Dandy-Walker variant, prenatal recognition of the anomaly allows for the option of fetal karyotyping and for arrangement for postnatal follow-up.     

Isolated choroid plexus cysts in the second-trimester fetus: is amniocentesis really indicated?

Choroid plexus (CP) cysts have been associated with trisomy 18, although most fetuses with CP cysts are normal. Since many fetuses with trisomy 18 have other sonographic abnormalities, the necessity of obtaining a karyotype for all fetuses with isolated CP cysts remains controversial. The authors prospectively studied 234 second-trimester fetuses with sonographically discovered CP cysts. Two hundred twenty of them had no other sonographic findings. None of these 220 normal fetuses had evidence of aneuploidy at amniocentesis or an anomaly at birth. Fourteen fetuses had major anomalies detected in utero: 11 had trisomy 18, one had triploidy, and two had normal karyotypes but were structurally abnormal. While size and bilaterality of the CP cysts were not helpful in predicting aneuploidy, the meticulous anatomic survey of fetuses with CP cysts allowed successful identification of all aneuploid fetuses. These data show that the yield of abnormal karyotypes in fetuses with isolated CP cysts is low and may not justify the risk of amniocentesis.     

Fetal central nervous system abnormalities

The advances in the sonographic imaging of the fetus have made the detailed examination of the fetal central nervous system (CNS) a routine part of the prenatal sonogram. A logical sonographic approach to the diagnosis of fetal CNS abnormalities is presented, based on the normal sonographic anatomy and the understanding of CNS pathology. This approach results in a classification of CNS abnormalities derived from ultrasound findings. The main categories are (1) hydrocephalus, (2) entities that mimic hydrocephalus, and (3) neural tube defects. Once a disorder is classified and all ultrasound abnormalities identified, a differential diagnosis can be developed.     

Management options for echogenic intracardiac focus and choroid plexus cysts: a review including Australian Association of Obstetrical and Gynaecological Ultrasonologists consensus statement

Echogenic intracardiac focus and choroid plexus cysts are common findings at the midtrimester ultrasound. These findings have been linked with an increased risk of Down syndrome and trisomy 18. Most fetuses with these findings will, however, not have chromosomal abnormalities, especially when these findings are isolated. Patients experience considerable anxiety when informed of these findings and require extensive counselling in order to minimize anxiety not only about aneuploidy but also about the structure and development of the heart and brain. Although early studies showed an association with aneuploidies, several recent studies have cast doubt on this association. Many of the early studies were carried out in high-risk populations or in populations that had not had the benefit of other screening tests. Many Australian and New Zealand patients will access screening tests designed to detect these aneuploidies before presenting for a midtrimester ultrasound. Patients who have been screened by nuchal translucency, maternal serum screening or some combination of the two will already have had most cases of Down syndrome and trisomy 18 detected, and any soft marker found will almost certainly be a false positive. It is time to rethink the management of these markers. Recent evidence indicates that if these markers are found in isolation in an otherwise low-risk pregnancy, then there is minimal or no increase in the risk of Down syndrome or trisomy 18: these markers should be considered normal variants.The Australian Association of Obstetrical and Gynaecological Ultrasonologists consensus statement on these markers is included.     

彩色多普勒超声诊断先天性膈疝的产前分析

目的：探讨先天性膈疝的产前超声表现。材料和方法：回顾性分析6例先天性膈疝胎儿声像图表现特征,并与病理结果相对照。结果：左侧膈疝5例,右侧膈疝1例,其中2例伴有其它复杂畸形。超声显示胎心、纵隔受压移位,心轴偏移明显。疝入器官见有胃泡、肠管、肝脏,胎儿呼吸样运动可致疝入器官运动幅度增加。结论：先天性膈疝的特征性声像图表现,可作为诊断的重要依据。     

Alobar holoprosencephaly: ultrasonographic prenatal diagnosis

Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. Specific sonographic findings included a large central cranial fluid collection (a monoventricular cavity lacking ventricular horns and midline structures), a fused thalamus at the floor of this cavity, and characteristic facial features (proboscis, single orbit, single nostril, or severe hypotelorism). Differential diagnosis of the fetus with a large intracranial fluid collection is discussed and illustrated.     

Initial experience using magnetic resonance imaging in prenatal diagnosis of osteogenesis imperfecta type II: a case report

We report a fetus with osteogenesis imperfecta (OI) first diagnosed by ultrasound in routine prenatal examination and further evaluated by magnetic resonance imaging (MRI). Fetal MRI was undertaken with a 1.5-T magnet using a body-phased array coil and an ultrafast imaging technique, half-Fourier single-shot turbo spin-echo (HASTE). Radiological examination shortly after birth and postmortem examination confirmed the prenatal diagnosis. In this case, fetal MRI provided excellent spatial and tissue resolution with multiplanar display. It revealed additional diagnostic information and improved imaging conspicuity. MRI complemented sonography for further differentiating clinical and sonographic findings.     

Prenatally detected myelomeningoceles: sonographic accuracy in estimation of the spinal level.

The sonograms and case records of 53 patients with prenatally detected myelomeningoceles were retrospectively reviewed. Sonographic findings were correlated with pathologic, surgical, and/or radiographic findings in 28 cases. Fourteen mothers chose to continue their pregnancies, and the level of neuromotor deficit was available for 11 children of this group. The sonographic and pathologic levels were in agreement in 18 of 28 cases (64%) and were within one spinal level in 22 of 28 cases (79%). The pathologic level of the lesion was underestimated (sonographic level lower than pathologic) in three fetuses and overestimated (sonographic level higher than pathologic) in another three. In 10 of 11 living children (91%) the neuromotor level was equal to or better than the anatomic level. The authors conclude that ultrasonography can, in most cases, allow accurate prediction of the level of the spina bifida lesion and the severity of neuromotor handicap in children with prenatal diagnoses of myelomeningocele.