胎儿肢体畸形产前超声诊断及预后

胎儿肌肉骨骼系统畸形及肢体畸形发生率约为1／500，且畸形种类及受累部位较多，形成原因复杂。骨发育不良或骨软骨发育不良，常表现为全身性骨骼或软骨发育异常，而非全身性或局限性骨骼畸形也常表现为多个畸形同时存在。因此，肌肉骨骼系统及肢体畸形常表现为全身性或多发性畸形，单一畸形较少见。     

胎儿泌尿系畸形的超声诊断及预后

近年来随着超声诊断仪器的进步，对胎儿泌尿系畸形的检出率逐渐增高，Kim等报道产前超声波筛查泌尿系异常的总发生率妊娠总数的2‰～9‰，B超诊断与产后病理结果符合率为85．7％，高艳娥等报道胎儿生殖泌尿系畸形的发生率为1．56‰。胎儿泌尿系畸形大致分为肾的囊泡性疾病、多囊肾及泌尿系闭锁性疾患，其中以多囊肾和肾盂积水的诊断率最高，且多合并羊水过少和肺发育不良。通过超声检查做出产前诊断对产前处理及新生儿预后至关重要。     

胎儿致命性畸形的超声诊断进展

本文讨论胎儿的11类主要致命性畸形的超声显像特征,并结合临床研究进展提出各类畸形的超声诊断标准,对于早期检测畸形胎儿促进优生优育有重要的意义。     

胎儿常见畸形的超声诊断

目的:探讨胎儿先心性畸形的超声显像特点及其诊断价值方法:应用超声诊断技术分析胎儿,先心性畸形的声像图特征和诊断依据结论:超声检查可以较准确的诊断胎儿先天性畸形,对临床产前筛查提供可靠依据,有较高的诊断价值,是产前诊断不可缺少的方法之一。     

胎儿骨骼系统畸形的超声诊断

胎儿先天性骨骼系统畸形种类繁多,受累部位涉及胎儿头颅骨、躯干骨、四肢及手、足等。随着超声影像技术的普及与诊断水平的提高,通过产前超声检查使胎儿骨骼系统畸形的诊断准确性得以提高,超声检查能够对宫内严重的、致死性骨骼畸形进行较为确切的形态学诊断,为减少重残障儿分娩率和降低围生儿死亡率,提高人口素质具有十分重要的作用。1胎儿骨骼的形成与致畸的可能因素胚胎时期,骨骼系统发生自间充质[1]。密集的间充质形成软骨,成为骨的透明软骨雏形,在这些软骨雏形中出现骨化中心。四肢骨发生自软骨雏形的软骨内成骨,上、下肢芽按照从肢体…     

产前超声诊断胎儿小眼畸形的价值

目的:探讨产前超声诊断对胎儿小眼畸形的价值。方法:回顾分析2013年4月30日至2019年4月30日四川大学华西第二医院超声科产前超声检查提示小眼畸形的胎儿超声图像及临床资料。结果:产前超声诊断小眼畸形胎儿12例,孕妇平均年龄27.92±4.50岁(高龄1例);平均孕周26.33±3.50周。12例胎儿中单侧小眼畸形8例,双侧小眼畸形4例;单纯小眼畸形3例,合并其他部位发育畸形9例(颜面部结构异常5例;颅内结构异常6例;胸部发育异常2例;心脏发育异常3例;消化系统发育异常2例;多囊性肾发育不良1例;腹腔积液1例;羊水过多4例);重度小眼畸形8例。12例胎儿中7例行羊水穿刺或引产后胎儿染色体检查,其中4例无明显异常,3例胎儿染色体异常(13-三体综合征2例;21-三体综合征1例)。2例孕妇及配偶行自身染色体检查,其中1例母亲染色体为46,XX,inv(9)(p12q13),父亲染色体未见明显异常(其胎儿染色体未见明显异常);另1例双方染色体均未见明显异常(其胎儿染色体结果为21-三体综合征)。所有产前超声诊断胎儿小眼畸形的孕妇均选择引产,引产后证实与产前诊断结果一致,产前超声诊断小眼畸形...     

胎儿产前神经系统畸形检查中三维超声的诊断效果分析

目的 探讨胎儿产前神经系统畸形检查中应用三维超声的诊断效果。方法 选取进行产检的1000名单胎孕妇为研究对象,均进行二维超声及三维超声检查,以病理学检查/随访结果为金标准。比较不同超声对胎儿产前神经系统畸形的检出结果及诊断效能。结果 病理检查/随访结果显示,1000例单胎孕妇产前筛查中,胎儿产前神经系统畸形53例,二维超声检出31例,占比58.41%,三维超声检出51例,占比96.23%,三维超声检出率高于二维超声;对胎儿产前神经系统畸形的诊断中,三维超声与二维超声的特异度经比较差异无统计学意义（P>0.05）,三维超声的灵敏度、准确度均高于二维超声,差异有统计学意义（P<0.05）。结论 三维超声检查在胎儿产前神经系统畸形检查中具有重要作用,可以为患者提供更加清晰的图像和更准确的信息,且具有较高的检出率,诊断价值较高。     

三维超声诊断胎儿畸形

三维超声是在二维超声的基础上,利用计算机再处理功能发展起来的新型超声诊断仪器,能扫查与了解各脏器的「空间立体形态,有利于观察各组织结构间的空间相互关系,能显示传统二维超声不能显示的在各平面的解剖学及病理学情况,加强可疑部位的显示,有助于提高产前诊断胎儿畸形的能力。     

Congenital generalized cystic lymphangiomatosis diagnosed by prenatal ultrasound

We describe a previously unknown congenital abnormality of the lymphatic system, characterized by multiple cystic lesions of the lower extremities and thorax. Diagnosis was made by ultrasound in the second trimester. The ultrasound findings, pathology results, and differential diagnosis are presented.     

Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound

Increased use of fetal ultrasound imaging by obstetricians has led to an increased rate of in utero detection of fetal malformations. Eight patients referred for level II sonography for confirmation of suspected fetal hydrocephalus were found to have affected fetuses. Examination of the resulting fetuses and infants revealed remarkable etiologic heterogeneity for the hydrocephalus. The risk for recurrence of hydrocephalus and other malformations in future offspring of these mothers varies from negligible to 25%. This experience emphasizes that there are many causes of fetal hydrocephalus and that careful diagnostic studies must be performed on any fetus or infant found to have hydrocephalus, so that accurate genetic counseling can be provided to the family.     

Decision-making after ultrasound diagnosis of fetal abnormality

During the last few decades, the use of ultrasonography for the detection of fetal abnormalities has become widespread in many industrialised countries. This resulted in a shift in timing of the diagnosis of congenital abnormalities in infants from the neonatal period to the prenatal period. This has major implications for both clinicians and the couples involved. In case of ultrasound diagnosis of fetal anomaly, there are several options for the obstetric management, ranging from standard care to non-aggressive care and termination of pregnancy. This essay explores the context of both clinical and parental decision making after ultrasound diagnosis of fetal abnormality, with emphasis on the Dutch situation. While normal findings at ultrasound examination have strong beneficial psychological effects on the pregnant woman and her partner, the couple is often ill prepared for bad news about the health of their unborn child in the case of abnormal findings. This is, in particular, true in settings where ultrasonography for the detection of fetal abnormalities is offered as an integral part of antenatal care without appropriate counselling. An important question is to what extent the couple should be supported in decision making when a fetal abnormality is diagnosed. In this context, the parental perception of having a choice varies markedly. When parents consider end-of-life decisions, they experience both ambivalent and emotional feelings. On the one hand, they are committed to their pregnancy, while on the other hand, they want to protect their child, themselves and the family from the burden of severe disability. These complex parental reactions have implications for the counselling strategy.

A survey of non-cardiac fetal intrathoracic malformations diagnosed by ultrasound

Between November 1986 and April 1993, 22 cases of intrathoracic abnormality were detected prenatally by ultrasound, and examined postnatally. There were 11 cases of diaphragmatic hernia, 5 cases of cystic adenomatoid malformation of lung, one case of chylothorax, two cases of lung sequestration, and three cases of bronchogenic cyst. The total number of deliveries during that period was 48,281 and the total number of major anomalies at that time was 669 (1.38%). Cases of hydrothorax of various etiology, as well as thoracic cage anomalies were excluded. Prenatal diagnosis allows planned delivery and the assembly of neonatologists and pediatric surgeons. Received: 4 June 1993 / Accepted: 4 October 1993     

Correlation between prenatal diagnosis by ultrasound and fetal autopsy findings in second-trimester abortions

We evaluated the correlation between prenatal diagnosis by ultrasound and autopsy findings, based on 52 second-trimester pregnancies terminated due to fetal malformations or chromosome aberrations diagnosed at a gestational age of 12-25 weeks. In 24 pregnancies, there was full agreement between ultrasound and autopsy. In 23 fetuses, the main diagnosis was confirmed and additional or more specific findings were observed on autopsy. In five fetuses, there were considerable differences. Discrepancies between ultrasound and autopsy findings were mainly anomalies undetectable by ultrasound and thus expected; however, about one-third of the discrepancies were not expected, representing findings that were 'missed' at ultrasound. The main ultrasound diagnoses were confirmed in the majority of the pregnancies, but the additional information obtained at autopsy in more than half of the fetuses clearly shows the value and benefit of postmortem fetal examination following termination of a pregnancy.