超声早期诊断胎儿单心室、单心房、永存动脉干一例

胎儿心血管异常以复杂和多种畸形并存,是新生儿死亡的一大关键要素。产前联合应用多种超声成像技术早期准确诊断胎儿先天性心脏畸形,判断其类型和检出合并的畸形,对孕期咨询、评估、抉择及出生后救治具有重要意义,从而达到优生优育的目的。报道1例超声早期诊断胎儿单心室、单心房、永存动脉干的临床资料,观察其在超声下特征性的结构改变,以提高超声医师诊断该疾病的技术水平,使得胎儿复杂畸形在妊娠早中期就能被检查出来。     

胎儿单脐动脉临床评估及预后

目的:了解单脐动脉胎儿的转归,围生结局及处理方式。方法:回顾我院近4年170例单脐动脉胎儿的临床资料(经超声、MRI、羊水或脐血染色体检查、引产胎儿尸体解剖结果等),随访出生后婴儿情况并进行临床评估及分析。结果:单脐动脉合并其他结构畸形的发生率为49.3%,合并一种畸形的发生率为15.9%,合并多种畸形发生率为33.3%;单脐动脉胎儿合并染色体异常发生率为18.4%;行MRI检查37例,与超声结果相符29例,8例与超声结果有差异,与超声符合率为78.4%。结论:超声检查易早期诊断单脐动脉,单脐动脉具有胎儿畸形的高风险性。单脐动脉合并其他结构畸形者建议行胎儿染色体检查。超声、染色体检查诊断未发现合并畸形的胎儿出生后仍有异常可能。单脐动脉不是剖宫产指征。     

单羊膜囊双胎的诊断及处理

影响单羊膜囊双胎围产儿生存的主要因素为:脐带缠绕、脐带相关意外、胎儿先天畸形、双胎输血综合征、胎儿生长受限和早产.妊娠第一期超声对单羊膜囊双胎早期诊断十分重要,妊娠中晚期的精确超声诊断是对胎儿间的相互关系、是否存在胎儿畸形以及胎儿宫内状况评估的重要手段.目前认为妊娠中晚期应适时将孕妇收入院管理,每日2次或更多的胎心监护对增加胎儿生存率有所帮助.     

产前超声诊断单脐动脉与胎儿异常的相关性研究

目的探讨超声检测胎儿脐带血管数目预测胎儿先天异常的价值。方法2000年1月至2006年10月在中山大学附属第一医院采用超声检测胎儿脐血管数目，对单脐动脉胎儿行产前超声系统筛查及胎儿染色体检查；分析单脐动脉合并畸形类型，与染色体异常的关系及胎儿结局。结果产前超声诊断胎儿单脐动脉119例，包括左侧72例（60．5％），右侧47例（39．5％）。单纯性单脐动脉59例（49.6％）；合并其他结构畸形60例（50．4％），其中泌尿系统畸形25例（41．7％），心血管系统畸形17例（28.3％），中枢神经系统畸形15例（25.0％），下肢畸形9例（15．0％），前腹壁和消化道畸形各5例（各占8．3％），唇裂或唇腭裂畸形3例（5．0％），其他畸形3例（5．0％）。行胎儿染色体检查41例，发现染色体异常8例，包括18-三体综合征3例、13-三体综合征1例、21．三体综合征1例、染色体片段异常3例，均合并其他畸形。结论胎儿单脐动脉左侧发生率高于右侧，约50％合并其他畸形；合并畸形时，染色体异常发生率较高；大部分单纯性单脐动脉胎儿结局良好。     

胎儿单脐动脉的发生及其合并畸形的超声诊断进展

单脐动脉(SUA)是指脐带内只有一条脐动脉,另一条脐动脉缺失,是常见的胎儿先天异常之一。SUA常合并其它先天性畸形,几乎发生在所有的器官,甚至可与多系统畸形同时发生,SUA胎儿妊娠结局相对较差。现就SUA的发生机制、超声特征、脐动脉血流动力学指标的变化、类型及其合并畸形的超声诊断进展做一综述。     

胎儿单脐动脉超声检出率及临床分析

目的:探讨产前超声筛查胎儿单脐动脉声像图的特征及其临床意义。方法:选择2007年12月—2009年7月于天津市中心妇产科医院进行产前超声检查的38 215例患者,发现单脐动脉366例,其中经分娩或引产证实的40例住院患者获得全部胎儿单脐动脉的临床和超声资料。结果:胎儿单脐动脉检出率约0.96%(366/38 215),40例超声均诊断为胎儿单脐动脉,超声显示在胎儿盆腔膀胱及脐轮斜切面仅见膀胱一侧脐动脉走行。其中,超声发现合并胎儿其他系统发育异常5例而引产,因宫内死胎引产1例;继续妊娠并生产的34例中,有12例在妊娠期间和产程中出现异常,7例胎儿发现异常。结论:彩色多普勒超声检查能准确诊断胎儿单脐动脉,超声检查发现胎儿单脐动脉时需多角度动态观察以明确是否合并其他器官发育畸形,对于继续妊娠者需密切注意胎儿发育情况和产程。     

超声技术在胎儿畸形早期诊断上的应用

对胎儿畸形的产前诊断有多种方法 ,分为侵入性产前诊断和非侵入性产前诊断两大类。超声显像技术因其直观、可重复性强和安全性能 ,已成为非侵入性产前诊断的主要手段。尤其随着阴式超声技术 (TVS)的成熟 ,利用超声早期检测胎儿畸形的研究已成为目前新的研究热点。现就超声技术在胎儿畸形早期诊断上的应用 ,综述如下。一、妊娠早期的诊断及检查方法妊娠早期的诊断是根据患者的症状、体征和辅助检查综合判断得出的 ,其中辅助检查包括生化检查 (如早孕因子、人绒毛膜促性腺激素等 )和超声检查。早孕诊断时应用超声可直接观察宫内胚胎发育情况…     

单胎产前超声诊断单脐动脉352例临床分析

目的:探讨单胎产前超声诊断单脐动脉的妊娠结局,为产前咨询和临床处理提供依据。方法:对2012年5月至2018年4月住院并分娩的352例单胎产前超声诊断为单脐动脉的病例进行回顾性分析。结果:同期单胎妊娠83238例,单胎单脐动脉发生率为0.42%。352例单脐动脉中孤立性单脐动脉(iSUA)308例,占87.5%,其中27例行染色体检查,1例染色体异常(3.7%)。308例中活产296例,死胎10例,流产1例,引产1例。活产儿中合并胎儿畸形14例,畸形率为4.7%(14/296)。非孤立性单脐动脉(niSUA)44例,占12.5%,其中29例行染色体检查,7例染色体异常(24.1%)。44例中活产14例,死胎1例,流产1例,引产28例。44例中合并单一畸形25例,以中枢神经系统及骨骼系统畸形为最常见(各5例);合并多发畸形19例,以心血管畸形及肢体骨骼畸形最常见(各10例)。产后排除单脐动脉病例15例。5例妊娠晚期首次发现单脐动脉,产后病理检查提示脐血管栓塞。结论:iSUA多数结局良好,但产后应注意排查隐匿性畸形。niSUA结局不良,染色体异常风险明显增加,应积极进行产前诊断。对于妊娠晚期首发单脐动脉的病例,应高度警惕脐血管栓塞。     

胎儿肾积水的病因、诊治及预后研究进展

胎儿肾积水是产前超声诊断中发现的最常见的一种胎儿泌尿系统畸形。随着产前超声检查的普及和超声诊断技术的不断提高,更多的胎儿先天性畸形得以发现。胎儿肾积水的病因复杂,分为生理性和病理性肾积水。目前对于胎儿肾积水的宫内治疗及产后处理都存在很大的争议。胎儿肾积水的预后与积水的病因、程度等密切相关。     

超声与MRI联合诊断14例单绒毛膜多胎畸形

目的 探讨超声和MRI联合诊断单绒毛膜多胎妊娠畸形的应用价值.方法 产前超声检出14例多胎妊娠畸形,均于超声检查后48 h内接受MRI检查,并于分娩或引产后证实.回顾性分析此14例的超声和MRI图象,并与随访结果比较.结果 14例多胎妊娠中无心畸胎7例、联体双胎5例、多胎之一消失2例.超声与MRI图像比较:(1)对于无心畸胎和多胎之一消失,超声可以明确诊断且是重要的随访手段;MRI能更清晰显示无心胎儿的器官与结构,并能检测供血胎儿和存活胎儿有无颅内继发改变.(2)对于联体儿,在心脏和血管结构的显示及心功能判断中超声明显优于MRI;在胃泡、肾脏、膀胱、肢体等结构的显示中超声与MRI较一致;在食管、肺、肝脏、肠管等器官的显示超声不如MRI,尤其是颅脑的显示;MRI具有较高软组织分辨力及视野大的特点,可显示较大病变及其与周围组织结构的关系,在联体双胎中可以同时显示两胎儿及两胎儿间的关系.结论 产前超声和MRI在诊断单绒毛膜多胎妊娠畸形中各有优劣,两者联合应用诊断价值更高.     

Sonography at the time of genetic amniocentesis to screen for fetal malformations

Obstetric ultrasound performed in conjunction with genetic amniocentesis at 14-18 weeks' gestation identified 16 fetuses with structural malformations among 4781 examinations. The outcomes for these 16 fetuses included 12 terminations, two fetal deaths, one related death six months after birth, and one transient abnormality with no apparent significant sequelae. The ultrasound examination failed to detect at least nine other fetuses with structural malformations. The relatively small size and early stage of development of the fetuses at the time of genetic amniocentesis appears to have contributed to the failure of ultrasound to detect these malformations. A brief search for fetal malformations during obstetric ultrasound performed at early genetic amniocentesis appears productive enough to be worthwhile. However, if there is a special indication to search for fetal malformations, the ultrasound examination should probably be repeated later.     

Pathologic ultrasound findings and risk for congenital anomalies in teenage pregnancies

Objective: To detect the number and diagnosis of fetal malformations in teenage pregnancies and to evaluate whether low maternal age or epigenetic factors have an influence on this issue. Materials and methods: We performed a retrospective analysis in a single center for prenatal diagnostics in Northern Germany. We searched our electronic databank for all pregnancies with maternal age under 20 years. Pregnancy outcome and fetal malformations are described. Results: The incidence of teenage pregnancies in our study was 638 patients (4.4%). The total of fetal malformations in teenage pregnancies was 51(8.3%). Chromosomal aberrations were found in 5 cases (0.9%). 9 cases of fetal gastroschisis as one of the most frequent malformations were followed up and neonatal outcome was uneventful. Furthermore we found 16 cases with different heart defects and 30 cases with other malformations. Patients’ body mass indices showed an increase over the years and nicotine consumption was testified in more than 50% of the patients. Conclusions: Teenage pregnancies are at risk for fetal non-chromosomal and chromosomal abnormalities. As these might be detected by first-trimester-screening prenatal care in teenage pregnancies should include at least early ultrasound examination. Epigenetic factors may play a key role in certain fetal malformations.     

Early fetal echocardiography: a new challenge in prenatal diagnosis

During the past decade, an increasing number of reports concerning the diagnosis of most major congenital heart defects (CHDs) using early fetal echocardiography (before the 18th week of gestation) have been reported in both low- and high-risk populations for CHD. The finding of increased nuchal translucency seems to be the strongest predictor of CHD during the first trimester. Although some malformations are detected as early as 11 weeks' gestation, the optimal gestational age to perform the early scan is at least 13 weeks' gestation. Transvaginal ultrasound is the preferred approach, although most authors agree that results can be improved if transabdominal ultrasound is also incorporated. The further application of color Doppler enhances visualization. The sensitivity and specificity for the detection of CHD are of an acceptable level, compared with mid-gestational echocardiography. CHDs diagnosed early in pregnancy tend to be more complex than those detected later, with a higher incidence of associated structural malformations, chromosomal abnormalities and spontaneous abortions. The neonate follow-up or postmortem examination in the case of termination of pregnancy is essential to assess the actual role of early fetal echocardiography.     

Antenatal ultrasound diagnosis of fetal malformations: possibilities, limitations and dilemmas

The antenatal ultrasound diagnosis of fetal abnormalities in 150 fetuses over the period 1975-early 1983 is reported. The perinatal outcome of the whole series has been assessed. The most frequently encountered malformations involved the central nervous system (34.9%), the nephro-urological system (17.2%), and the gastro-intestinal tract, abdominal wall and diaphragm (17.1%). Neonatal findings in incompletely explained polyhydramnions, fetal hydrops, and severe intrauterine growth retardation are also commented upon. Numerical chromosomal abnormalities were present in at least 13.3% of the malformed fetuses. The accuracy of the antenatal ultrasound diagnosis in a defined subgroup with congenital malformations resulting in perinatal death was analysed: in 76.9% one (or more) malformations were correctly diagnosed or relevant information was obtained. Comment is made on the obstetrical management and its inherent dilemmas, with appropriate references to the literature. Antenatal ultrasound, together with complementary techniques, can reach an acceptable level of accuracy, but associated anomalies may be missed. Groups for which there are different prognoses can be assessed, and serve as a guideline in perinatal management. Ethical attitudes, psychological aspects, and the possible promises of fetal treatment are briefly discussed.     

Transvaginal sonographic detection of embryonic-fetal abnormalities in early pregnancy

OBJECTIVE: To estimate the detection rate of abnormalities by transvaginal ultrasound in early pregnancy. METHODS: We prospectively analyzed records of 3592 sequential pregnant women at 10-16 weeks' (singleton) gestation (mean 13 weeks and 2 days). After exclusion of 114 women, there were 3478 women in the study. Each woman underwent a transvaginal sonographic survey for fetal anomalies as well as biometric measurements. Fetuses diagnosed with malformations were followed to delivery, and those without underwent transabdominal sonography at 18-24 weeks' gestation.Results: The anomaly detection rate by transvaginal ultrasound was 51.6% (33 of 64; 95% confidence interval [CI] 38.7, 64.2) in early pregnancy, and the detection rate by transvaginal ultrasound combined with second-trimester transabdominal ultrasound was 84.4% (54 of 64; 95% CI 73.1, 92.2). Cystic hygroma and fetal hydrops were the anomalies detected most frequently by transvaginal ultrasound. Low detection rates for abnormalities of the face and of the cardiac, skeletal, and urinary systems were found even when both methods were used. CONCLUSION: Transvaginal sonography appears to be an effective way to identify many congenital fetal anomalies in early pregnancy. There is a good probability of diagnosing cystic hygroma and fetal hydrops, although other abnormalities, particularly heart defects, are associated with lower detection rates.     

Ultrasound in pregnancy – a contribution to safe and gentle delivery?

Summary The routine application of ultrasound in pregnancy has had an important impact on perinatal medicine. New trends in perinatal medicine, aiming at more individual and self-determined pregnancy and delivery, are realizable because of the safety provided by ultrasound. Often prenatal ultrasound is regarded as only being able to detect fetal malformations, but ultrasound provides many more benefits for a safe pregnancy: early detection of fetal viability; intrauterine localization of the pregnancy; exact determination of the gestational age in early pregnancy; later in pregnancy, confirmation of appropriate fetal growth, position and localization of placenta site. In addition, the development of close mother-child bonding by visualizing the fetus could be of positive impact. These aspects are contributions of ultrasound to a gentle and safe pregnancy and delivery for mother and child.      

Cerebral malformations in the 30th-36th pregnancy week--diagnosis and consequences

When serious cerebral malformations of the fetal cerebrum are diagnosed, the pregnancy is in most cases so far advanced, that termination would be difficult medically, controversial ethically and--depending on legislation--impossible legally. Most cerebral malformations associated with hydrocephalus appear late in the 2nd and early in the 3rd trimester. Routine pregnancy ultrasound scan of the fetal brain is difficult due to the dynamic changes in cerebral anatomy during normal pregnancy and due to the artefacts produced by intra-cranial reverberations. The concept that there is a "right time" for in utero diagnosis of fetal hydrocephalus is reviewed. Unequivocal early diagnosis is only possible in cases of anencephaly. 15 cases of severe cerebral malformations that were seen during prenatal ultrasound at Innsbruck University Hospital are presented "Nonaggressive Obstetric Management" as a novel and structured approach to such cases is discussed.     

Antenatal Depiction of the Fetal Ear With Three-Dimensional Ultrasonography

Objective: To evaluate the feasibility of examining the fetal ear with three-dimensional ultrasound.Methods: In 125 pregnancies between 19 and 38 weeks of gestation, fetal ears were evaluated by three-dimensional ultrasound. The volume images with surface rendering were analyzed to depict the morphology, lying axis, orientation, and cranial location of the fetal ears.Results: Three-dimensional images of one or both ears were successfully reconstructed in 105 fetuses. Among them, 18 fetuses had anomalous ears. The anomalous ears, including microtia, low-set ear with slope axis, abnormal ear orientation, and edematous ear, were confirmed after delivery. Three-dimensional ultrasound consistently displayed fetal ear abnormalities with greater accuracy and clarity.Conclusion: Because anomalous ears may be a part of complex fetal malformations, it is important to recognize ear abnormalities. Due to the complexity of the fetal ear, three-dimensional ultrasound offers more important information than two-dimensional ultrasound, which simply gives auricular geometry. We suggest that three-dimensional ultrasound can be used better to examine the fetal ear and may prove to be useful for prenatal diagnosis and genetic counseling.     

Congenital diaphragmatic hernia. Two cases with early prenatal diagnosis and increased nuchal translucency

The early ultrasound prenatal diagnosis of congenital diaphragmatic hernia is uncommon and suggests a poor outcome. We report 2 cases diagnosed at 10 and 12 weeks' gestation, with increased fetal nuchal translucency thickness (4 and 11 mm) and associated abnormalities (complex heart defect in one and many malformations in the other, including duodenal atresia and asplenia). In 1 case, the baby was delivered vaginally at 36 weeks, but neonatal death occurred; the pregnancy was terminated at 15 weeks in the second case.     

Fetal magnetic resonance imaging: a review

PURPOSE OF REVIEW: To describe advances in magnetic resonance technology and the current indications and advantages of magnetic resonance imaging that have led to increased utilization in fetal medicine. RECENT FINDINGS: The article covers the most common uses of magnetic resonance imaging in fetal medicine. The advantages of magnetic resonance imaging for the diagnosis of fetal malformations are described, in particular the advantages of magnetic resonance imaging in central nervous system malformations not optimally diagnosed by ultrasound are described. These cases include malformations of migration, malformations of development, such as agenesis of the corpus callosum, and destructive lesions. Noncentral nervous system lesions include chest abnormalities, abdominal wall defects, gastrointestinal and genitourinary abnormalities and fetal neoplasms. Abnormalities of placentation and other maternal factors affecting pregnancy are shown. SUMMARY: Recent studies have shown that magnetic resonance imaging can add significantly to the prenatal diagnosis and management of congenital abnormalities. In addition, placental abnormalities have been diagnosed with greater accuracy.