系统产前超声检查在双胎妊娠产前筛查中的应用价值

目的探讨系统产前超声检查在双胎妊娠产前筛查中的应用价值。 方法对2012年10月至2017年12月在咸阳市妇幼保健院进行系统产前超声检查的393例双胎妊娠资料进行回顾性分析,将其中27例双胎妊娠畸形病例纳入研究。通过将双胎妊娠畸形病例产前超声检查资料与随访及病理解剖结果进行对比,分析双胎妊娠系统产前超声检查胎儿畸形检出率及诊断符合率。 结果纳入研究的27例双胎妊娠畸形病例中19例为胎儿结构畸形,8例为双胎妊娠特有畸形。19例胎儿结构畸形均为双胎之一胎儿的单一畸形,8例双胎妊娠特有畸形多为两个胎儿同时受到累及。系统产前超声检查检出17例胎儿结构畸形和8例双胎妊娠特有畸形均与病理诊断符合,系统产前超声检查诊断符合率100%（25/25）;漏诊胎儿结构畸形2例,胎儿畸形检出率92.6%（25/27）。 结论系统产前超声检查应用于双胎妊娠产前筛查有较高的畸形检出率及诊断符合率,具有重要的临床应用价值。     

胎儿泌尿系统畸形的超声诊断

目的:进一步探讨胎儿泌尿系统畸形的超声表现及超声诊断价值,提高超声诊断符合率。方法:回顾性地分析了95例产前超声诊断为泌尿系统畸形的胎儿超声图像,并与产后结果进行对照。结果:95例产前超声诊断泌尿系异常的胎儿随访80例,随访率为84.2%;产前超声诊断与产后随访结果基本一致。结论:产前超声检查对胎儿泌尿系统畸形有重要的诊断价值,并有利于估计预后。     

胎儿泌尿系统畸形产前、产后超声检查与尸体解剖结果的对比研究

目的 评价胎儿泌尿系统畸形产前超声诊断准确率,探讨泌尿系统畸形产前、产后超声扫查方法,探讨产后超声诊断泌尿系统畸形的可靠性.方法 对产前超声检查发现单纯泌尿系统畸形或合并其它系统畸形且父母决定引产并同意尸体解剖的21例胎儿的尸体行高频超声检查并解剖,对比分析产前、产后超声检查及尸体解剖结果.结果 21例中,产前超声发现泌尿系统异常19例,灵敏度为90.5%;产后高频超声检查均发现泌尿系统异常,灵敏度为100%.21例中,泌尿系统畸形共33处(除外3处输尿管畸形),产前超声准确诊断22处(66.7%),漏诊6处(18.2%),误诊5处(15.1%).产后高频超声检查准确诊断30处(90.9%),漏诊1处(3.0%),误诊2处(6.1%).结论 产前超声发现胎儿泌尿系统畸形的灵敏度较高,但对畸形的归属能力的判断还有待进一步提高;泌尿系统畸形的胎儿尸体高频超声检查与尸体解剖结果符合率较高,在家属拒绝尸体解剖时,可作为替代尸体解剖的另一种选择.     

产前超声检查胎儿肢体畸形临床诊断价值技术

目的:分析产前超声检查胎儿肢体畸形临床诊断价值。方法:选取2016年5月-2019年5月我院确诊为胎儿肢体畸形的孕妇20例,所有孕妇均接受产前超声检查,观察超声检查符合率及不同孕周检查结果。结果:20例肢体畸形患儿中超声技术检出肢体畸形胎儿19例,诊断符合率为95.00%,超声技术检出符合率与引产/分娩结果对比无明显差异(P>0.05);孕20周~24周与孕25周~29周检查符合率对比无明显差异(P>0.05),但均比孕12周~19周、孕30周~34周符合率高,差异具有统计学意义(P<0.05)。结论:产前超声检查可尽早发现胎儿肢体畸形,促进优生优育。     

胎儿肢体畸形的产前超声检查最适时间探讨

目的 探讨超声在产前诊断胎儿肢体畸形(FLM)的临床价值和最适检查时间.方法 采用连续顺序追踪超声法(SCSA),对33 438例产前超声检查已确诊有FLM的全部畸形儿,记录超声检查时间和结果并与引产或产后结果对照.结果 FLM[指胎儿短肢、缺肢、手或足形态异常等畸形和胎儿指(趾)畸形],畸形发生率约为4.48‰.产前超声诊断FLM中胎儿短肢、缺肢、手或足形态异常等畸形和胎儿指(趾)畸形的符合率分别为71.7%和1.0%.产前超声筛查FLM中胎儿短肢、缺肢、手或足形态异常等畸形在孕17～20周诊断符合率为72.2%.结论 超声筛查是产前诊断FLM的必要手段,在孕17～20周开始进行初次产前超声筛查能早发现FLM.     

产前超声诊断胎儿心血管畸形的临床应用价值

目的探讨产前超声诊断在胎儿心血管畸形的临床应用价值。方法回顾性分析4200例孕妇系统产前超声检查结果及心血管畸形的影像图特征,追踪随访产前超声诊断胎儿心血管畸形的孕妇通过引产后尸检或产后超声检查证实产前超声诊断的准确性。结果 4200例孕妇共检出胎儿心血管畸形26例(不包括房间隔缺损),发病率为6.19‰,通过随访结果可以证实产前超声诊断准确17例,5例拒绝行尸检,失访4例,诊断准确率达65.38%。结论产前超声能够达到早期筛查、早期诊断、早期干预,降低出生缺陷的目标。     

产前超声检查对胎儿畸形的诊断价值分析

目的:探讨产前超声检查对胎儿畸形的诊断价值。材料与方法:对10995例孕12-40周胎儿行常规超声检查,对胎儿畸形进行诊断,记录其产前超声检查结果,并将其与引产或分娩后诊断结果进行对比,将所得数据进行统计学分析。结果:10995例胎儿中共发现胎儿畸形79例,其中中枢神经系统畸形所占比例最高(27.85%),其他还包括心脏、颜面部及头颈部畸形、泌尿系统、消化系统、腹壁缺陷、骨骼系统及肢体、胸腔畸形、联体双胎等,诊断符合率92.94%(79/85)。结论:对孕妇实施的产前超声检查可获得较为理想的胎儿畸形检出率,有利于保障孕妇身心健康并提高人口素质。     

连续顺序追踪超声法诊断早中孕期胎儿肢体异常及图像分析CSCD

目的对胎儿常见肢体畸形及少见复杂肢体畸形(海豹肢和人体鱼序列综合征)胎儿产前超声声像图特征进行总结分析。方法采用连续顺序追踪超声法对2014年9月至2016年8月在解放军第一〇五医院产前超声筛查的18 708例胎儿行常规肢体和手足检查。与引产胎儿外观、影像检查及尸检结果对照,总结胎儿肢体畸形产前超声声像图特征。结果产前常规和系统超声筛查检出胎儿肢体畸形76例(0.41%,76/18 708),包括:(1)前臂及手部畸形2例;缺指、多指、并指等手指数目异常11例;裂手畸形2例;手缺如2例;手姿势异常7例;(2)下肢及足部畸形:足内翻45例,海豹肢2例,人体鱼序列综合征1例;(3)四肢短小4例。其中孕14~19+6周胎儿肢体畸形超声检出率为0.69%(18/2627),孕20~27+6周超声检出率为0.46%(38/8195),孕20~27+6周超声检出率为0.40%(17/4237),均高于孕11~13+6周超声检出率(0.08%,3/3649)。76例肢体畸形胎儿中合并其他系统异常37例(包括颅脑、心脏、消化、肾脏、头面部及脊柱等);其中染色体异常11例(21-三体2例,18-三体6例,13-三体3例)。76例肢体畸形引产胎儿标本外观检查均与产前超声检查结果一致,尸检(64例)证实产前超声仅遗漏1例胎儿左足多趾畸形。结论早中孕期采用连续顺序追踪超声法筛查胎儿四肢及指趾,可及早发现胎儿肢体畸形,为临床处理提供诊断依据。     

超声影像在诊断胎儿上肢末端异常类型中的应用价值

目的探讨超声影像在诊断胎儿上肢末端异常类型中的应用价值。方法采用连续顺序追踪超声法(SCSA)对胎儿肢体进行扫查,当疑有异常时,运用超声实时三维等多种成像模式对可疑异常处进行成像观察。超声诊断胎儿上肢末端异常的病例,追踪随访产后与病理结果。结果在本研究中,超声影像检出胎儿上肢异常42例,其中手姿势异常21例、多指畸形13例、并指5例、裂手畸形2例、手指缺失1例。随访病例共21例,其中19例(90.48%)产前超声结果与随访结果一致,误诊2例(9.52%)。结论胎儿上肢末端严重畸形的检出受胎儿体位、羊水量及上肢末端状态的影响,SCSA的规范运用、二维及三维等多种超声显像模式的联合应用有助于检出。     

胎儿先天性肺囊腺瘤样畸形产前超声诊断及临床意义

目的探讨产前超声检查对胎儿先天性肺囊腺瘤样畸形(CCAM)的诊断价值及临床意义。方法对39例产前超声诊断为CCAM胎儿的超声声像图特征进行总结分析;39例胎儿中28例引产,尸体解剖病理证实26例为CCAM;其余11例胎儿均随访至出生后6个月,随访结果证实该11例均为CCAM。结果 (1)产前超声表现:39例胎儿产前超声检查均显示胸腔内异常回声,其中双侧3例,单侧36例(左侧15例,右侧21例);超声分型CCAMⅠ型4例,CCAMⅡ型16例,CCAMⅢ型19例。(2)伴发症状及畸形:36例胎儿(36/39,92.3%)出现伴发症状及畸形,均伴发纵隔移位,羊水过多6例,胸腔积液4例,腹腔积液3例,胎儿全身水肿3例,心包积液2例,肝囊肿2例,胎盘增厚1例,颈部水囊瘤1例;3例胎儿(3/39,7.7%,CCAMⅢ型)未出现其他伴发症状和畸形。(3)产后随访结果及妊娠结局:28例引产胎儿中26例产前超声分型诊断与产后病理诊断符合,2例隔离肺产前超声检查误诊为CCAMⅢ型。其余11例胎儿随访至出生后6个月,超声随访示2例肿块逐渐缩小至消失,余9例胎儿出生后MRI诊断为CCAM,产前超声分型诊断与产后随访诊断结果均相符。产前超声诊断符合率为94.9%(37/39),误诊率为5.1%(2/39)。结论产前超声分型对评估CCAM胎儿预后有重要临床意义。     

产前超声在胎儿消化道异常诊断中的价值

目的探讨产前超声在胎儿消化道异常诊断中的价值,提高其对胎儿消化道疾病诊断的准确率。方法回顾性分析22例产前超声筛查并发现先天性消化道异常的患儿和13例产前超声未发现异常但出生后检出先天性消化道异常患儿的声像图资料。结果22例产前超声发现胎儿消化道异常征象者中,出生后检出先天性消化道畸形16例,阳性预测值为72．7％。29例消化道先天异常患儿中,产前超声检出16例,总检出率为55．2％。结论产前超声筛查对胎儿消化道畸形的部位无法直接显示,对消化道畸形检出率有一定限制,但通过间接征象的显示以及多次重复的细心检查能有效检出绝大部分消化道畸形。     

Fetuses and infants with congenital urinary system anomalies: correlation between prenatal ultrasound and postmortem findings.

OBJECTIVE: Detection of congenital urinary system anomalies is an important part of the prenatal ultrasound examination. The present study compares prenatal ultrasonographic findings and postmortem examinations of fetuses and infants with renal and urinary tract anomalies. DESIGN: Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine (Trondheim, Norway) and autopsy performed during the period 1985-94. Results from the ultrasound examination and autopsy regarding urinary system anomalies were categorized according to the degree of concordance. RESULTS: Urinary system anomalies were found in 112 (27%) of 408 fetuses with congenital anomalies. The renal and/or urinary tract anomaly was the principal reason for induced abortion or cause of death in 50 cases (45%). In 97 (87%) of the 112 cases there was full agreement between the ultrasound observations and the autopsy findings. In five cases the autopsy revealed minor findings not mentioned in the ultrasound report. The main diagnosis was thus correct in 102 cases (91%). In four cases major autopsy findings had not been found by ultrasound examination; in another four, none of the autopsy findings were suspected by ultrasound, and in two, minor ultrasound findings were not confirmed at autopsy. CONCLUSIONS: The accordance between ultrasound diagnoses and postmortem examinations proved to be satisfactory. The close co-operation between ultrasonographers and perinatal pathologists is mutually beneficial. In addition to complementing prenatal diagnosis, postmortem examination is of vital importance for the quality control of ultrasonography in fetal diagnosis and plays an important role in genetic counseling.     

Poor prenatal detection rate of cardiac anomalies in Noonan syndrome.

BACKGROUND: The wide variation and nonspecific nature of many of the associated ultrasonographic findings complicate prenatal diagnosis of Noonan syndrome. The aim of the present study was to define the rate of prenatal diagnosis of heart malformations in cases diagnosed postnatally with Noonan syndrome. METHODS: English-language literature review of 29 cases of Noonan syndrome examined prenatally with confirmed postnatal diagnosis and four case reports from our center. RESULTS: Cases were evaluated for cervical spine pathologies, cardiac anomalies and other pathological findings, including hydrops fetalis and polyhydramnios. Cardiac anomalies were suspected in only nine of 33 cases; three of these were associated with cystic hygroma. Cardiac anomalies were eventually diagnosed in 31/33 cases postnatally. Polyhydramnios was diagnosed in 19/33 cases in the third trimester, and hydrops fetalis was detected in eight of 33. Cystic hygroma was present in a total of nine cases at mid-trimester. CONCLUSIONS: Noonan syndrome is characterized by late-onset and progressive pathologies, particularly the associated cardiac anomalies, which develop through the course of gestation and postnatal life. This complicates or precludes prenatal diagnosis at mid-trimester or at any time in the prenatal period, and partly explains the low rate of detection of fetal cardiac lesions in this syndrome.     

胎儿泌尿系统畸形的产前超声诊断与产后随访及引产后尸体解剖的对比分析

目的 提高泌尿系统畸形产前超声检查的准确率. 方法 将产前超声检查发现单纯泌尿系统畸形或合并其他系统畸形的14例胎儿进行产后超声随访及引产后进行尸体解剖,将随访结果及尸体解剖结果与产前超声检查结果进行对比分析. 结果 产前超声诊断14例泌尿系统畸形.共有泌尿系统畸形24处,产前超声诊断19处,灵敏度98％,特异度85.4％;准确率79.2％,漏诊率20.8％. 结论 产前超声检查发现胎儿泌尿系统畸形的准确率较高,对该疾病的早期发现有重要意义.     

胎儿泌尿系统异常的产前超声诊断

目的总结胎儿泌尿系统异常的产前超声图像特征,探讨胎儿泌尿系统异常产前超声诊断的临床价值。 方法对产前超声检出泌尿系统异常的492例胎儿超声影像表现及合并畸形进行总结分析。 结果492例胎儿产前超声检出泌尿系统异常548处,其中以肾盂增宽（或肾积水）（47.2%,232/492）、肾缺如或萎缩（20.3%,100/492）、肾脏多囊性病变（16.9%,83/492）检出例数居多（84.3%,415/492）,其余类型泌尿系统异常（肾脏发育不良、肾脏异位、融合肾、重复肾、肾囊肿、巨膀胱、膀胱输尿管囊肿、脐尿管憩室、泄殖腔外翻、梅干腹综合征等）检出例数较少（27.0%,133/492）。早孕期发现胎儿巨膀胱5例,其余泌尿系统异常多于中晚孕期发现。492例胎儿中单纯泌尿系统异常366例（74.4%,366/492）,合并1种或多种其他异常的胎儿126例（25.6%,126/492）共214种异常。其中合并心脏（17.5%,22/126）、消化系统（15.1%,19/126）、颅脑（13.5%,17/126）、肢体（9.5%,12/126）、颜面（7.1%,9/126）、脊柱（7.1%,9/126）部位异常88例（69.8%,88/126）,羊水过少34例（27.0%,34/126）。与后期随访及临床检查结果对照,产前超声漏误诊5例（2例正常肾误诊为重复肾,1例肾上腺囊肿误诊为肾脏囊肿,2例异位肾误诊为肾缺如）。 结论超声是胎儿泌尿系统异常首选的检查方法,产前超声早期发现胎儿泌尿系统异常并进行连续随访对指导临床诊断治疗有重要意义。     

先天性心脏大动脉畸形的产前超声诊断线索

目的探讨先天性心脏大动脉畸形的产前超声诊断线索、检测技巧及临床意义,提高此类畸形的产前检出率。方法对16200例受检胎儿均采取胎儿心脏四腔心切面加胎儿头侧偏转法快速筛查胎儿心脏畸形,对疑有胎儿心脏畸形者获取左右心室流出道及主、肺动脉长轴切面、主动脉弓切面、大动脉短轴切面、动脉导管弓切面、三血管平面、三血管气管平面观察大动脉的排列关系、内径、血管数目、内部血流的彩色多普勒及频谱多普勒情况。结果产前共诊断累及大动脉的各种胎儿先天性心脏畸形94例,包括大动脉的内径异常55例,血管排列关系异常25例,血管数目异常19例,大动脉相对气管位置关系异常2例,血流方向及性质异常53例。结论大动脉起始部的平行排列,内径异常,数目异常及相对气管的位置关系异常,内部血流异常均是胎儿先天性大动脉畸形的产前超声诊断线索和依据。     

产前超声检查对胎儿畸形的诊断价值

目的探讨胎儿畸形的声像图特征和超声对产前胎儿畸形的诊断价值。方法对87例产前孕妇行常规超声检查,发现胎儿畸形声像予以测量记录,并且通过临床分娩或引产证实。结果胎儿畸形以神经系统畸形（33例,占37．93％）,消化系统畸形（16例,占18．39％）,颜面部畸形（9例,占10．34％）和泌尿系统畸形（7例,占8．05％）最为常见。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-洛床产前诊断的首选方法。     

产前超声诊断胎儿全前脑及其面部畸形

目的 观察胎儿全前脑畸形(HPE)及其面部畸形的声像图特点,探讨产前超声诊断HPE的价值。方法 回顾性分析我院产前超声诊断或拟诊的15胎HPE的超声表现,与引产后尸体解剖结果进行对照分析。结果 15胎HPE中,无叶型10胎,半叶型5胎,均伴不同程度、不同部位面部畸形,其中独眼畸形7胎、正中唇腭裂4胎、猴头畸形2胎、头发育不全畸胎1胎、轻度眼距过近1胎。27处面部畸形中,以眼、鼻、唇、腭等中轴结构多处受累、多种畸形组合为主,超声诊断符合率为70.37%(19/27)。10胎合并面部以外其他结构异常(共30处),7胎为多发畸形,超声诊断符合率76.67%(23/30)。结论 超声可准确显示HPE的典型颅内改变和特殊的面部畸形,有助于诊断及鉴别诊断。     

Imperforate anus: A relatively common anomaly rarely diagnosed prenatally.

OBJECTIVE: Despite the relatively common occurrence of imperforate anus, prenatal diagnosis is rarely reported. In this study, we investigated the presence and diagnosis of imperforate anus along with strategies for improving prenatal diagnosis of the condition. PATIENTS AND METHODS: Fetuses and infants with imperforate anus who had been examined prenatally by ultrasound at the National Center for Fetal Medicine (NCFM) from 1987 to 2004, were evaluated. RESULTS: Of 69 cases with imperforate anus, only 11 (15.9%) were diagnosed prenatally, at a median gestation of 18 + 4 (range, 15 + 6 to 35 + 6) weeks. In all 11, dilatations of the rectum or lower part of the bowel were seen. Additional anomalies, most of them diagnosed prenatally, were present in 59/69 (85.5%) of the cases. The most frequent additional anomalies were urogenital (53.6%). The karyotype was abnormal in nine cases (13.0%). A retrospective evaluation of available videotapes of 22 cases of imperforate anus that were not diagnosed prenatally revealed that it was possible to suspect the diagnosis in 11/22 (50%) cases. Sixteen infants were born with imperforate anus without prenatal diagnosis of any abnormality. In total, 31/69 (44.9%) cases were terminated, two (2.9%) died in utero and 12 (17.4%) died postnatally. Twenty-four (34.8%) infants survived, including all 10 with isolated imperforate anus and seven of eight cases with only one additional anomaly. CONCLUSIONS: The prenatal detection rate of imperforate anus was only 15.9%. Imperforate anus is often associated with other anomalies; in this study, 85.5% had additional anomalies. Prenatal diagnosis makes prenatal counseling possible and facilitates optimized postnatal care. We believe that the prenatal detection rate of imperforate anus could be improved. Examiners should intensify their search for typical findings of imperforate anus especially when other anomalies that frequently accompany this condition are present.     

胎儿泌尿系畸形的超声随访监测与临床对比观察

目的对孕期超声监测到胎儿泌尿系统畸形者的妊娠结局和患儿以后的肾脏功能进行评估.方法对1993年1月～2003年12月所有产前超声检查怀疑泌尿系先天畸形的患儿进行产前死亡率、产后超声诊断、产后处理、肌酐清除率进行回顾性分析,以评估以后的肾脏功能.结果 74例产前超声怀疑为泌尿系畸形者,18例考虑到泌尿系畸形可能为致命性病变而终止妊娠,15例患儿于产前或产后1个月内死亡.至今存活者,21例肾脏功能良好、5例肾功能欠佳、3例肾功能极差,12例胎儿于出生后超声证实不是畸形,他们的肾功能良好,产前怀疑双侧泌尿系畸形和合并其他相关畸形患儿预后较差.结论产前诊断泌尿系畸形预后依靠特有的异常发现,染色体组型异常、合并其它相关畸形、累及双侧的先天泌尿系畸形预后较差.