产前超声诊断胎儿双侧小耳畸形1例并文献复习

许多遗传综合征常伴小耳畸形,因此早期产前超声诊断发现胎儿小耳畸形可以有效地进行针对性的遗传学筛查,有利于早期发现其他隐匿畸形并作出处理.本文报道孕22周产前超声诊断胎儿双侧小耳畸形1例并做相关文献复习.     

产前诊断重度胎儿生长受限的Wolf-Hirschhorn综合征三例

目的:探讨产前超声诊断为重度胎儿生长受限的Wolf-Hirschhorn综合征胎儿的遗传学病因。方法:回顾性分析2018年至2020年间在长沙市妇幼保健院产前超声诊断为重度胎儿生长受限伴或不伴其他畸形的3例Wolf-Hirschhorn综合征胎儿的病历资料。所有病例均在超声引导下采集羊水进行染色体核型分析和单核苷酸多态...     

胎儿脑积水的超声诊断

胎儿脑积水是胎儿最常见的畸形之一,而产前超声检查是发现胎儿脑积水最常用的方法.脑积水可由于其病因的不同在超声图像上有不同的表现,各种临界性脑积水对预后的影响近年来也颇有争议.通过脑室系统的发育、脑脊液的循环说明各种病因引起的脑积水的超声图像,对超声诊断胎儿脑积水的现状、困难及展望作一探讨.     

胎儿脑积水的超声诊断

胎儿脑积水是胎儿最常见的畸形之一，而产前超声检查是发现胎儿脑积水最常用的方法。脑积水可由于其病因的不同在超声图像上有不同的表现，各种临界性脑积水对预后的影响近年来也颇有争议。通过脑室系统的发育、脑脊液的循环说明各种病因引起的脑积水的超声图像，对超声诊断胎儿脑积水的现状、困难及展望作一探讨。     

超声在胎儿肾积水的诊断和监测中的应用进展

胎儿肾盂集合系统的扩张、胎儿肾积水是产前超声检查可发现的常见胎儿异常表现之一,发生率约为1%～5%。生理性肾积水可在出生后自行缓解,而病理性肾积水则会继续恶化,甚至导致肾功能受损。产前检查区分胎儿肾积水的原因报道较少。多数胎儿肾积水分级以肾盂前后径值为标准,有的同时结合其他超声表现,如肾盏扩张、肾脏回声、肾实质变薄、膀胱扩张及羊水量等。目前对胎儿肾积水的诊断和分级尚无统一的标准。综述一些超声检查新指标,为临床处理胎儿肾积水提供循证医学依据。     

超声检查在先天畸形诊断中的应用

随着超声诊断技术的飞速发展，产前超声诊断的内容及范围不断拓宽，目前已成为诊断胎儿畸形的主要手段。现将我院4460例超声检查发现胎儿畸形情况进行总结分析如下；     

胎儿心脏锥干畸形产前诊断评价

目的评价胎儿心脏锥干畸形产前超声心动图诊断准确性。方法运用胎儿超声心动图进行先天性心脏病产前诊断，并与心脏病理诊断或新生儿心脏超声诊断进行比较分析。结果2063例胎儿进行心脏超声检查，产前发现胎儿心脏锥干畸形28例，诊断时平均孕周26．6周（16～40周），产前诊断包括大血管转位5例，法洛四联症5例，右室双出口6例，永存动脉干9例，室间隔缺损合并主动脉骑跨可能1例，2例检查发现大血管位置异常但胎儿超声心动图未予明确诊断。24例经胎儿心脏病理检查或新生儿心脏超声检查确诊，4例失访（包括1例TOF／TA？，2例“大血管发育异常”，1例TGA）。比较产前诊断与产后诊断，分析大血管位置关系诊断准确性为75．0％（18／24）。结论胎儿超声心动图可正确诊断胎儿心脏锥干畸形，需运用多种超声切面及彩色脉冲多普勒确定大血管位置关系。     

胎儿染色体异常的超声软指标分析

由于绝大部分染色体异常的胎儿均可以通过产前核型分析进行诊断,使产前筛查并诊断胎儿染色体异常的方法获得了很大的进步.染色体异常的胎儿常合并微小或严重的结构畸形,随着超声分辨技术和诊断水平的提高,特别是近年来遗传学超声(genetic sonog-raphy)的发展,通过超声检查首先发现并确诊的染色体异常胎儿愈来愈多.目前,超声筛查结合母血血清学筛查已成为发现染色体异常胎儿的主要途径.     

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。     

彩色多普勒超声产前诊断对胎儿畸形的临床分析

目的：探讨彩色多普勒超声产前诊断对胎儿畸形的临床应用。方法：对146例胎儿进行彩色多普勒超声产前诊断,对结果提示异常进行分析。结果：唇裂（含腭裂）畸形9例,占6．16％,神经管畸形18例,占12．3％;先天性心脏畸形90例,占61．6％;肢体畸形20例,占13．7％;肾积水2例;肾多囊样改变1例;肝囊肿2例;腹裂畸形3例;多发畸形1例。结论：彩色多普勒超声对产前腹中的胎儿畸形的诊断比较准确,对临床的应用具有非常重要的价值。     

Fetal hydronephrosis. Case report and literature review

Fetal hydronephrosis is the most common congenital anomaly detected by routine prenatal ultrasound. It is the abnormal dilatation of the urinary canal, and its most frequent causes are physiologic and transitory hydronephrosis, with spontaneous resolution. Pelvi-ureteric junction obstruction represents its first pathological cause. Renal function worsening is its major complication. During pre and post-natal periods ultrasound is the election diagnostic method for this entity. The two most accepted criteria to defining hydronephrosis are Society for Fetal Urology grade and anterior-posterior diameter of renal pelvis. Here we present a case of unilateral fetal hydronephrosis detected at 31" gestational week, its pre and postnatal ultrasound control, and obstetric and neonatal treatment. Prenatal opportune diagnosis and adequate postnatal treatment (medical or surgical) are very important to preserve renal function.     

Prenatal diagnosis of structural anomalies.

The ultrasound diagnoses of fetal anomalies affecting obstetric management were initially made in the early 1970s. Since this breakthrough, ultrasound diagnosis and prenatal management of structural fetal abnormalities have become essential and evolving components of prenatal diagnosis and therapy. In this overview, we review recent contributions in the peer review literature on four controversial topics: choroid plexus cysts, cystic hygroma, ventral wall defects, and hydronephrosis.     

Prenatal diagnosis of zygosity by fetal DNA analysis,a contribution to the management of multiple pregnancies. A series of 31 cases

OBJECTIVE: To evaluate the contribution of prenatal diagnosis of zygosity by fetal DNA analysis to the management of multiple pregnancies. METHODS: Between March 1999 and March 2000, 31 same-sex multiple pregnancies, were referred to our Institute during their second trimester to have amniocentesis done. Fetal DNA variants were studied in addition to karyotype. The main indications for amniocentesis were fetal growth discordance, fetal malformations or selective pregnancy termination. Zygosity results were compared to the first-trimester ultrasound diagnosis. RESULTS: 21 out of the 31 multiple pregnancies were dizygous, and 10 out of the 31 pregnancies were monozygous. First-trimester ultrasound provided information on chorionicity only in 24 out of the 31 cases (77%). Of these 24 reports, 21 proved to be correct (87.5%). Moreover, in 2 cases among 14 pregnancies with growth discordance, DNA analysis ruled out a twin-to-twin transfusion syndrome, while ultrasound could not yield a conclusion. In 2 twin pregnancies with fetal malformations affecting one of the fetuses, DNA analysis made it possible to assess the risk for the other twin. In the 5 cases leading to selective termination, prenatal diagnosis of zygosity had a decisive value for the surviving fetus. CONCLUSION: Fetal DNA analysis is a simple and highly useful test for prenatal diagnosis of zygosity in the management of complicated multiple pregnancies.     

Prenatal diagnosis of long QT syndrome using magnetocardiography: a case report and review of the literature

OBJECTIVES: To investigate the usefulness of magnetocardiography (MCG) in the prenatal diagnosis of fetal long QT syndrome. METHODS: Fetal MCG was recorded in a case of fetal long QT syndrome suspected in utero. The literature on the prenatal diagnosis of fetal long QT syndrome was also reviewed. RESULTS: The MCG was performed at 36 weeks' gestation because sustained fetal bradycardia of 110-120 bpm was detected by cardiotocography. The 64-channel MCG revealed a prolonged fetal corrected QT-interval of 0.57 s. The postnatal electrocardiogram coincided with prenatal MCG. CONCLUSION: An accumulation of cases of prenatally diagnosed long QT syndrome using MCG indicates that MCG may be the most reliable tool for the prenatal diagnosis of long QT syndrome.     

Usefulness of additional fetal magnetic resonance imaging in the prenatal diagnosis of congenital abnormalities

Objective

Our aim was to compare the value of fetal magnetic resonance imaging (MRI) with detailed ultrasound in the prenatal diagnosis of congenital abnormalities.

Materials and methods

This retrospective study reviewed the medical records of pregnant women and their neonates who, after ultrasound, were suspected to have congenital abnormalities. They then underwent a detailed ultrasound examination and a fetal MRI in our institutions. Fetal MRI was performed in 81 cases. Each prenatal presumptive diagnosis, based on detailed ultrasound examination and fetal MRI, was compared with the postnatal confirmed diagnosis. In 58 cases, the data collected were confirmed by the postnatal diagnosis.

Results

Supplemental information from fetal MRI was useful in 17 of the 22 cases involving the central nervous system (CNS), two of two cases involving the thorax, nine of nine cases involving the genitourinary system, two of eight cases involving the gastrointestinal system, and ten of ten cases involving complex malformations. Fetal MRI did not provide significantly useful information or facilitate a more accurate diagnosis except for CNS abnormalities.

Conclusion

Fetal MRI was not superior to an ultrasound examination in the prenatal detection of congenital abnormalities. A detailed ultrasound examination performed by experienced obstetricians had satisfactory accuracy in the diagnosis of fetal abnormalities compared with fetal MRI. Fetal MRI might be useful in appropriate cases in Korea. Greater effort is required to increase the ultrasound knowledge and skill of competent obstetricians.     

Dedicated fetal neurosonographic evaluation improves patient care and maternal fetal medicine fellow training

Fetal malformations of the central nervous system are among the most common major birth defects encounter during prenatal ultrasound screening. Patients with fetal intracranial findings require further work-up for improving the accuracy of the sonographic diagnosis. We developed and advanced fetal neurosonography and related services to improve clinical care and to positively impact the fetal outcome. Currently, dedicated neurosonography in the prenatal period is not routinely offered across all prenatal diagnostic centers. We propose that dedicated neurosonography done in advanced prenatal diagnostic centers improves fetal outcomes. This is directly related to proper counseling, pediatric and neonatal involvement during the prenatal period. We present here our model of dedicated neurosonography adapted to our center in the last 4 years to improve diagnosis and better understand fetal CNS pathology. With commitment of resources and coordination of services, this model is easy to implement and benefits not only parents and babies but also provides the maternal fetal medicine fellows advanced training in fetal neurosonography.     

Congenital hydronephrosis: correlation of fetal ultrasonographic findings with infant outcome

Although congenital hydronephrosis is a common fetal disorder, ultrasonographic criteria for prenatal diagnosis remain poorly defined. In this study prenatal ultrasonographic findings were correlated with postnatal outcome in 63 fetuses with suspected hydronephrosis. Prenatal ultrasonographic measurements included length, anteroposterior diameter, and transverse diameter of the kidney and renal pelvis, as well as dorsal renal parenchymal thickness. In 45 of the 63 fetuses, hydronephrosis was confirmed postnatally. These infants were divided into two groups on the basis of renal status: (1) abnormal renal function and/or surgery required (n = 31) and (2) normal renal function with no surgery required (n = 14). The anteroposterior diameter of the renal pelvis was the simplest and most sensitive technique for prenatal diagnosis of congenital hydronephrosis, allowing identification of 100% of cases. Postnatal follow-up studies are warranted if an anteroposterior pelvic diameter is greater than or equal to 4 mm before 33 weeks or greater than or equal to 7 mm after 33 weeks.     

3800例羊水细胞染色体核型分析及相关遗传咨询

目的：探讨染色体异常核型与产前诊断指征的关系及羊膜腔穿刺术的安全性,为产前遗传咨询提供客观的实验依据。方法：3800例具备产前诊断指征的妊娠妇女,在知情选择的情况下行羊膜腔穿刺术及染色体核型检测。分析相关数据,追踪羊膜腔穿刺术的结局。结果：羊水细胞一次培养成功率为99.26%（3772/3800）,两次培养成功率为99.97%（3795/3796）。在3795例羊水细胞培养成功的染色体核型中,检出异常核型120例,异常率为3.16%,其中染色体数目异常率1.61%（61/3795）,结构异常率0.58%（22/3795）,多态性变异异常率0.97%（37/3795）。产前诊断指征中,按羊膜腔穿刺例数,位于前3位的分别是唐氏综合征筛查高危人群组（以下简称唐筛高危组,3541例）、不良妊娠分娩史组（95例）和单纯高龄组（≥35岁,83例）。检出染色体异常核型例数前3位的分别是唐筛高危组（103例）、夫妻单方染色体异常组（8例）和单纯高龄组（4例）。染色体核型异常率前3位的分别是夫妻单方染色体异常组（38.10%,8/21,仅1例有临床意义）、超声提示胎儿异常组（9.38%,3/32）和单纯高龄组（4.82%,4/83）。唐筛高危组中,高龄和低龄妊娠妇女染色体核型异常率差异有统计学意义（χ2=4.342,P〈0.05）。单纯高龄组与唐筛高危组中高龄妊娠妇女染色体核型异常率差异无统计学意义（χ2=0.157,P〉0.05）。胎儿丢失率0.237%（9/3800）,胎死宫内率0.053%（2/3800）。结论：①唐筛高危、高龄、超声提示胎儿异常及夫妻单方染色体异常者均有必要进行产前诊断。②羊膜腔穿刺术相对安全。③根据相关实验数据对高危妊娠妇女进行个体化遗传咨询是必要的。     

Fetal echocardiography: are we getting it right?

OBJECTIVE: To determine the diagnostic accuracy of prenatal fetal echocardiography. METHODS: The study was a retrospective chart review of 190 consecutive patients over a 3-year period from November 1998 to February 2002 of all women referred to the Maternal Fetal Medicine unit, Mater Mothers Hospital, for fetal echocardiography. The prenatal diagnosis was compared with the postnatal diagnosis made by postnatal echocardiography, surgical findings or post-mortem. The accuracy of prenatal diagnosis was described on a predetermined 4-point scale. RESULTS: Of the 89 patients, for whom complete diagnostic follow-up was available, there was complete agreement between the prenatal and postnatal diagnosis in 63 cases, minor discrepancies in 25 cases and major disagreement in 1 case. CONCLUSIONS: In experienced hands, fetal echocardiography is accurate and allows medical staff and patients information in order manage a pregnancy appropriately.