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Prenatal Detection and Postnatal Verification of Unusual Intracardiac Total Anomolous Pulmonary Venous Connection (Tapvc) in Complex Heart Defect with Dextrocardia - Case Report 复杂心脏缺损伴右心的异常心内全异常肺静脉连接(Tapvc)的产前检测及产后验证1例
Pub Date : 2018-12-31 DOI: 10.1515/pcard-2018-0009
A. Krasoń, J. Płużańska, M. Łukaszewski, J. Moll, M. Respondek-Liberska
Abstract Prenatal diagnosis of total anomolous pulmonary venous connection (intracardiac) was diagnosed in fetus with dextrocardia and complex heart defect, which allowed fetal echocardiography monitoring, planning the time and place for delivery as well as early cardiac surgery. The differences between prenatal and postnatal evaluations were underlined. Despite life treathening condition neonate was asymptomatic without any heart murmur for the first 3 days after delivery.
摘要对右心合并复杂心脏缺损的胎儿,产前诊断肺静脉连接全异常(心内),可进行胎儿超声心动图监测,规划分娩时间、地点及早期心脏手术。强调了产前和产后评价之间的差异。新生儿无症状,分娩后3天无心脏杂音。
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引用次数: 0
Extraordinary Bulging Mass in the Foetus - A Case Report of Bladder Exstrophy 胎儿异常膨出肿块-膀胱外翻1例报告
Pub Date : 2018-12-31 DOI: 10.1515/pcard-2018-0007
Joanna Łosińska, M. Respondek-Liberska
Abstract INTRODUCTION: Prenatal diagnosis of bladder exstrophy is extremley rare and difficult. BACKGROUND: Due to abnormal development of the cloacal membrane there is an incomplete closure of the lower abdominal wall, absence of the anterior wall of the bladder and external exposition of the posterior wall. The pubic bones are usually separated, the umbilical cord low inserted and there is abnormal external genitalia development. CASE REPORT: At 21st week of gestation of 39-year-old multigravida multipara referred by a primary care obstetrician to high-specialised centre for a detailed ultrasound examination with a suspicion of bladder absence and inferior umbilical localisation. At 29 weeks of gestation presence of bulging mass of 2 cm, between the umbilical outlet and labia was detected. At 31 weeks of gestation previously detected structure among thighs had 3 cm diameter with lateral umbilical outlet. Major labia were prominent and minor labia were within normal limits. Between two umbilical arteries with an appropriate intraabdominal course there were no transsonic area corresponding to the urinary bladder. The newborn baby was born at term in a good condition, but with an exposed bladder of 4 cm in diameter. The urethral outlet was not visualised and the female genitals were abnormal. After a month the girl underwent primary bladder exstrophy closure. Although she suffers from recurring urinary tract infections, she is in a good general condition. CONCLUSIONS: Due to prenatal diagnostics it was possible to detect and make an initial diagnosis of severe malformation. Early diagnosis allowed to prepare parents for a newborn with a defect and teach them how to take care of the baby.
摘要简介:产前诊断膀胱外翻极为罕见和困难。背景:由于泄殖腔膜发育异常,下腹壁不完全闭合,膀胱前壁缺失,后壁外露。耻骨通常分离,脐带插入低,外生殖器发育不正常。病例报告:39岁多孕多产妇,孕21周,由初级保健产科医生转介到高级专科中心进行详细的超声检查,怀疑膀胱缺失和下脐定位。妊娠29周时,在脐出口和阴唇之间发现2厘米的隆起肿块。妊娠31周时,先前检测到的大腿间结构直径为3cm,有外侧脐出口。大阴唇突出,小阴唇正常。在两条脐动脉之间有一个适当的腹腔内路线,没有与膀胱相应的跨声速区。新生儿足月出生,情况良好,但膀胱外露直径4厘米。尿道出口未见,女性生殖器异常。一个月后,女孩接受了原发性膀胱外翻闭合。虽然她反复患尿路感染,但总体情况良好。结论:产前诊断可及时发现并初步诊断严重畸形。早期诊断可以让父母为有缺陷的新生儿做好准备,并教他们如何照顾婴儿。
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引用次数: 1
Prenatal Microcephaly and Hydrocephalus and Normal Heart Anatomy, Postnatal Diagnosis of Nijmegen Syndrome - Case Report 产前小头畸形和脑积水与正常心脏解剖,产后诊断奈梅亨综合征病例报告
Pub Date : 2018-12-31 DOI: 10.1515/pcard-2018-0008
M. Wójtowicz-Marzec, M. Respondek-Liberska
Abstract Nijmengen breakage syndrome is a rare autosomal condition mainly characterized by microcephaly. Patients are predisposed to malignancies due to combined immunodeficiency. The presented patient had prenatally diagnosed microcephaly with atypical ventriculomegaly of occipital horns. Fetal echocardiography showed a normal fetal heart anatomy. Diagnosis of Nijmengen syndrome was confirmed postnatally. The differential diagnosis of fetal microcephaly should take into account intrauterine infections, perinatal brain injury, congenital malformations or biological variants.
摘要Nijmengen断裂综合征是一种罕见的常染色体疾病,主要表现为小头畸形。由于联合免疫缺陷,患者易患恶性肿瘤。本病例产前诊断为小头畸形伴不典型枕角脑室肿大。胎儿超声心动图显示胎儿心脏解剖正常。出生后确诊为奈梦根综合征。胎儿小头畸形的鉴别诊断应考虑宫内感染、围产期脑损伤、先天性畸形或生物学变异。
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引用次数: 0
Isolated Double Aortic Arch (Daa) – Prenatal Detection with Postnatal Follow-Up, Case Report and Literature Review 孤立性双主动脉弓(Daa) -产前检测与产后随访,病例报告和文献复习
Pub Date : 2018-12-31 DOI: 10.1515/pcard-2018-0010
J. Murlewska, Agnieszka Żalinska, D. Roik, B. Werner, M. Respondek-Liberska
Abstract This case report presents a prenatal diagnosis with postnatal confirmation (by angio CT and computer reconstruction) of an isolated double aortic arch, with no blood disturbances and with no clinical symptoms after birth. Literature review was focusing on the possible symptoms in the future. Prenatal findings should be forwarded to neonatologist and pediatrician despite clinical silence.
本病例报告提出了一个孤立的双主动脉弓的产前诊断和产后确认(通过血管CT和计算机重建),无血液紊乱,出生后无临床症状。文献综述的重点是未来可能出现的症状。产前检查结果应转发给新生儿和儿科医生,尽管临床沉默。
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引用次数: 1
Interartery discordance in fetuses with growth restriction 生长受限胎儿的动脉间不协调
Pub Date : 2018-10-01 DOI: 10.1515/pcard-2018-0006
D. Mackeen, J. Ross, A. Betz, W. Feng, J. Bringman, M. Paglia
Abstract OBJECTIVES: Our objectives were two-fold: 1) to determine the frequency of discordant umbilical artery Doppler systolic to diastolic (S/D) ratios in the individual umbilical arteries of growth-restricted fetuses and 2) to examine the impact of the frequency of discordance on clinical outcomes. METHODS: This was a prospective, observational study of growth-restricted fetuses. Doppler velocimetry was performed weekly and two S/D ratios were obtained for each fetal umbilical artery. Inter-artery discordance was defined as a difference in measurement categories (i.e., normal, elevated, absent, reversed) between the arteries. The number of abnormal measurements per visit was summed to 0-4 out of 4 values. A composite average number of abnormal Doppler measurements was calculated and fetuses were stratified based on degree of average number of abnormalities in increments of 25%: 0-<25%, 25-<50%, 50-<75%, and 75-100% abnormality. RESULTS: Of a total 241 fetuses (1762 visits), 110 (45.6%) had abnormal UAD flow and 189 (66%) demonstrated discordance. Abnormal values were noted in only one artery in 53% (n=151) of visits. Fetuses with any abnormal Doppler testing had smaller birthweights compared to fetuses with consistently normal testing (2485g vs 2623g, p <0.01); birthweight decreased as composite average of abnormal measurements increased (p = 0.03). CONCLUSION: The majority (66%) of fetuses with abnormal testing demonstrated UAD discordance. Up to 53% of fetuses could have been misdiagnosed if only one artery was tested. Fetuses with a higher frequency of Doppler abnormalities had lower birthweights. We propose obtaining two measurements from each umbilical artery in growth-restricted fetuses.
目的:我们的目的有两个:1)确定生长受限胎儿个体脐动脉多普勒收缩舒张(S/D)比不一致的频率;2)检查不一致频率对临床结果的影响。方法:这是一项针对生长受限胎儿的前瞻性观察性研究。每周进行多普勒测速,获得每条胎儿脐动脉的两个S/D比。动脉间不一致被定义为动脉之间测量类别的差异(即正常、升高、缺失、逆转)。每次访问的异常测量数被求和为0-4(4个值)。计算异常多普勒测量的综合平均次数,并根据平均异常次数的程度以25%的增量对胎儿进行分层:0-<25%,25-<50%,50-<75%和75-100%异常。结果:在共241例胎儿(1762次就诊)中,110例(45.6%)出现UAD流量异常,189例(66%)出现不一致。在53% (n=151)的就诊中,只有一条动脉出现异常值。多普勒检测异常的胎儿出生体重小于正常胎儿(2485g vs 2623g, p <0.01);出生体重随异常测量的复合平均值的增加而降低(p = 0.03)。结论:大多数(66%)检测异常的胎儿表现为UAD不一致。如果只检测一条动脉,高达53%的胎儿可能会被误诊。多普勒异常频率较高的胎儿出生体重较低。我们建议对生长受限胎儿的每条脐动脉进行两次测量。
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引用次数: 0
Congenital Heart Defects Coexisting with Omphalocele - the Important Prognostic Factor 先天性心脏缺陷合并脐膨出——重要的预后因素
Pub Date : 2018-10-01 DOI: 10.1515/pcard-2018-0005
Ł. Sokołowski, M. Respondek-Liberska, M. Krekora, J. Płużańska, M. Słodki
Abstract Introduction: The aim of this study was to evaluate the following parameters of fetuses and neonates with omphalocele: the prevalence of coexisting congenital heart defects (CHD), abnormalities in heart function and the impact of coexisting CHD on fetal and neonatal survival. Material and methods: The study group consisted of 69 fetuses with omphalocele diagnosed and monitored at the Department of Prenatal Cardiology in our Institute in the years 2007-2017. The retrospective analisis of patients' data was performed. For statistical analysis we used Chi-square test, t-Student test and U Mann-Whitney test.. Results: In the studied group omphalocele was an isolated defect in 31.9% of the cases (22/69), in 68.1% (47/69) coexisting defects were present, in 49.3% (34/69) the coexisting defect was CHD. The most common CHD coexisting with omphalocele were ventricular septal defect (VSD), double outlet right ventricle (DORV) and atrio-ventricular septal defect (AVSD). Abnormalities of heart function were present in 43.5% (30/69) of fetuses with omphalocele: 23.5% (8/34) with normal heart anatomy and in 62.9% (22/35) with CHD. Statistically significant differences between the group with normal heart anatomy and the group with CHD regarded: Cardiovascular Profile Score (CVPS) (median 10 points vs median 9 points, U Mann-Whitney test p=0.034), neonatal birth weight(mean 3253 g vs median 2700 g, U Mann-Whitney test p=0.003), Apgar score (median 8 vs median 7, U Mann-Whitney test p=0.038) and survival rate until discharge from hospital (85% vs 52.9%, Chi-square test p=0.034). The comparison of data from 2007-2017 with data obtained from similar analysis performed in our center in 1999-2006, revealed significant improvement in the early detection of omphalocele (median 14.5 weeks of gestation vs mean 25.4 weeks of gestation), gestational age of delivery (mean 38 weeks of gestation vs mean 34 weeks of gestation) and survival rate until discharge both in neonates with normal heart anatomy and coexisting CHD (85% and 52.9% vs 70% and 23% respectively) . Conclusions: 1. The presence of coexisting CHD is an important prognostic factor in fetuses and neonates with omphalocele, so early fetal echocardiography should be performed in every case of omphalocele. 2. During the last decade (2007-2017), in contrast to years 1999-2006, we observed significant improvement in early and complete prenatal diagnosis of omphalocele. 3. We observed improvement in strategy of obstetrical management resulting in delivering neonates in a more advanced gestational age both in the group with normal heart anatomy and the group with coexisting CHD.
摘要简介:本研究旨在评估脐膨出胎儿及新生儿并发先天性心脏缺陷(CHD)的患病率、心功能异常及并发先天性心脏缺陷对胎儿及新生儿生存的影响。材料与方法:研究对象为2007-2017年在我院产前心内科诊断并监测的69例脐膨出胎儿。对患者资料进行回顾性分析。统计分析采用卡方检验、t-Student检验和U Mann-Whitney检验。结果:本组脐膨出为孤立性缺陷占31.9%(22/69),并存缺陷占68.1%(47/69),并存缺陷占49.3%(34/69)。室间隔缺损(VSD)、右心室双出口(DORV)和房室间隔缺损(AVSD)是最常见的合并脐膨出的冠心病。脐膨出胎儿的心功能异常占43.5%(30/69),心脏解剖正常胎儿的心功能异常占23.5%(8/34),冠心病胎儿的心功能异常占62.9%(22/35)。心脏解剖正常组与冠心病组的心血管特征评分(CVPS)(中位数10分vs中位数9分,U Mann-Whitney检验p=0.034)、新生儿出生体重(平均3253 g vs中位数2700 g, U Mann-Whitney检验p=0.003)、Apgar评分(中位数8 vs中位数7,U Mann-Whitney检验p=0.038)和出院前生存率(85% vs 52.9%,卡方检验p=0.034)具有统计学意义。将2007-2017年的数据与本中心1999-2006年类似分析的数据进行比较,发现心脏解剖正常且合并冠心病的新生儿在脐膨出的早期发现(中位妊娠14.5周vs平均妊娠25.4周)、分娩胎龄(平均妊娠38周vs平均妊娠34周)和出院存活率(分别为85%和52.9% vs 70%和23%)均有显著改善。结论:1。同时存在冠心病是胎儿和新生儿脐膨出的重要预后因素,因此对任何一例脐膨出都应进行早期胎儿超声心动图检查。2. 在过去十年(2007-2017)中,与1999-2006年相比,我们观察到脐膨出的早期和完整产前诊断显着改善。3.我们观察到,在心脏解剖正常组和合并冠心病组中,产科管理策略的改善导致新生儿在更早的胎龄分娩。
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引用次数: 0
Fetal Echocardiography in Uncommon Prenatal Cardiac Anomalies: Right Atrium Diverticulum, Interventricular Septal Aneurysm, Left and Right Ventricle Diverticulum – Report from Referral Center for Fetal Cardiology in Poland 胎儿超声心动图在罕见的产前心脏异常:右心房憩室,室间隔动脉瘤,左右心室憩室-来自波兰胎儿心脏病转诊中心的报告
Pub Date : 2018-08-01 DOI: 10.1515/pcard-2018-0004
J. Płużańska, M. Respondek-Liberska
Abstract The prenatal detection of congenital anomalies of heart walls is very rare. We present a unique series of 8 cases with prenatal echocardiographic monitoring, treatment and postnatal follow-up, providing new insight into this “mysterious” heart problem
摘要先天性心壁异常的产前检测非常罕见。我们报告了一系列独特的8例产前超声心动图监测,治疗和产后随访,为这种“神秘”的心脏问题提供了新的见解
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引用次数: 2
Echocardiographic Methods of Fetal Heart Size Assessmentheart to Chest Area Ratio and Transversal Heart Diameter 胎儿心脏大小评价的超声心动图方法——心胸比和横心直径
Pub Date : 2018-06-01 DOI: 10.1515/pcard-2018-0003
Oskar Sylwestrzak, M. Respondek-Liberska
Abstract Introduction: Ultrasound assessment of fetal heart size (FHS) is widely used and recommended in many guidelines of fetal echocardiography due to its clinical value. The aim of this study was an analysis of some fetal heart measurements: ratio of heart area to chest area (HA/ CA) and transversal diameter of heart (AP) and their correlation to gestational age. Material and methods: This retrospective study was based on database of records of ultrasound and echocardiographic examinations performed in our unit and included fetuses between 15th and 39th week of gestation with no evidence of heart defect or any abnormality. Results: 609 ultrasound examinations were analyzed. The mean HA/CA was 0,30 ± 0,015, with no statistical difference between female and male (p>0,05), and seemed to be relatively constant with slight increase with advancing gestational age. The AP diameter in whole group correlated with gestational age (r=0,94) and there was no difference related to the fetuses gender. Conclusion: The correlation of AP diameter and relative constancy of HA/CA ratio with gestational age presented in our normograms could be used for monitoring fetal development, but also for fetal cardiomegaly assessment.
摘要简介:超声评估胎儿心脏大小(FHS)因其临床价值被广泛应用于许多胎儿超声心动图指南中。本研究的目的是分析一些胎儿心脏测量:心脏面积与胸围面积之比(HA/ CA)和心脏横径(AP)及其与胎龄的关系。材料和方法:本回顾性研究基于本单位超声和超声心动图检查记录数据库,纳入妊娠15 - 39周无心脏缺陷或任何异常的胎儿。结果:对609例超声检查结果进行分析。HA/CA均值为0,30±0,015,男女差异无统计学意义(p> 0.05),且相对稳定,随着孕龄的增加略有增加。全组AP直径与胎龄相关(r=0,94),与胎儿性别无关。结论:心电图显示的AP直径和HA/CA比值与胎龄的相关性可用于胎儿发育的监测,也可用于胎儿心脏肥大的评估。
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引用次数: 9
Hydrops Fetalis and Congenital Pulmonary Capillary Haemangiomatosis in a Premature Infant - A Case Report and Literature Review 胎儿水肿和早产儿先天性肺毛细血管瘤病1例报告并文献复习
Pub Date : 2018-06-01 DOI: 10.1515/pcard-2018-0011
Anna Iacoi, A. Brobeil, M. Götte, C. Enzensberger, V. Müller, S. Gattenlöhner, R. Axt‐Fliedner
Abstract Pulmonary capillary haemangiomatosis (PCH) is a rare disorder of the lung, well described in adult literature. PCH is characterized by capillary proliferation, infiltrating the interstitium and alveolar walls. This leads to development of respiratory distress and to end-stage pulmonary hypertension. Mostly young adults are affected. The affection of newborn is described in less than ten cases in literature in the past forty years. PCH is a mostly deadly ending disease. We present a preterm born infant with antepartal diagnosed hydrops fetalis, who died 30 minutes after birth. Autopsy revealed PCH as lethal reason and not cardial disease as presumed before.
肺毛细血管瘤病(PCH)是一种罕见的肺部疾病,在成人文献中有很好的描述。PCH的特点是毛细血管增生,浸润间质和肺泡壁。这导致呼吸窘迫和终末期肺动脉高压的发展。受影响的主要是年轻人。近四十年来,文献中对新生儿情感的描述不足十例。PCH是一种致命的绝症。我们提出一个早产婴儿与产前诊断积水胎儿,谁死后30分钟出生。尸检显示PCH为致死原因,而非先前推测的心脏疾病。
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引用次数: 0
Recommendations “Cardio-Prenatal 2017” From Poland 来自波兰的“心脏产前2017”建议
Pub Date : 2018-05-17 DOI: 10.1515/pcard-2018-0001
K. Czajkowski, E. Helwich, K. Preis, M. Grzesiak, M. Krekora, E. Gulczyńska, K. Kornacka, Krzysztof Zeman, I. Maroszyńska, M. Respondek-Liberska
Abstract On 27.10.2017, in the course of the CARDIO-PRENATAL Conference at the Polish Mother’s Memorial Institute and Health Centre in Lodz, we presented, among others, the following problems: classification of prenatal heart defects, fetal hemodynamic status evaluation in the third trimester, expected neonate’s clinical condition, planned procedures to be conducted just after birth and also planned medical staff to be present in the delivery room. Here are our main recommendations following the meeting and discussion.
2017年10月27日,在罗兹波兰母亲纪念研究所和健康中心举行的心脏-产前会议上,我们提出了以下问题:产前心脏缺陷的分类、妊娠晚期胎儿血流动力学状态评估、预期新生儿的临床状况、计划在出生后进行的手术以及计划在产房的医务人员。以下是我们在会议和讨论后的主要建议。
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引用次数: 5
期刊
Prenatal Cardiology
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