Spatio-temporal image correlation (STIC) as a new screening tool for prenatal detection of congenital heart defects. The first Spanish experience

Introduction. The recent introduction of three- and four-dimensional ultrasonography opens a promising perspective in prenatal diagnosis.

Objective. To assess the use of the STIC technique as a screening tool in order to perform a “basic and extended fetal cardiac evaluation”.

Methods and material. A number of volumes are prospectively obtained during the routine morphological scan by a general sonographer in 28 patients randomly selected among those attending our unit. Afterwards, an experimented examiner in fetal echocardiography proceeds to their offline analysis. The successful rate of volume acquisition and analysis is evaluated, as well as the percentage of cases in which a “basic” or “extended” cardiac evaluation is possible through single sweep and multiplanar navigation. Cases with chromosomal anomalies, cardiac abnormalities or extracardiac malformations are excluded.

Results. A number of 58 volumes are included, with gestational ages ranging between 17 and 35 weeks. STIC acquisition was possible in all cases. A “basic cardiac study” was achieved in 100% of cases, while an “extended cardiac study” was achieved in 86% of them. Multiplanar study improved the visualization of those structures not identifiable through the initial acquisition single plane in all cases.

Conclusions. We present the first study on a nationwide scale about the introduction and applications of the STIC technology. STIC volumes can be obtained by operators inexperienced in fetal echocardiography and their offline analysis enables recognition of most of the structures and views necessary to assess fetal cardiac anatomy.     

Fetal circulation and placental blood flow in monochorionic twins

Objectives. Twin to twin transfusion syndrome (TTTS) is one of the most important problems for perinatal management of monochorionic twins. Since TTTS is deeply related to the prognoses of both fetuses, fetal circulation and placental blood flow of monochorionic twins were studied with the purpose of clarifying characteristic features.

Methods. The patterns and numbers of vascular anastomoses were checked on the placental surface, arterio-arterial (A-A) anastomosed vessels by ultrasound, and circulatory changes were studied with relation to uterine contraction.

Results. The high risk of monochorionic twin pregnancies was largely related to the patterns of vascular anatomy of the placenta and numbers of anastomosed vessels. The first placental vascular connection detected in vivo was the A-A anastomosis characterized by the bidirectional flow waveform in pulsed Doppler velocimetry.

Conclusion. TTTS is related to anastomosed vessels on the surface of placenta. To manage and prevent TTTS, fetal circulation and placental blood flow should be carefully observed.     

胎儿心脏超声Yagel法扫描在产前诊断双胎妊娠胎儿先天性心脏病中的价值

目的探讨胎儿心脏超声Yagel法扫描对双胎妊娠胎儿先天性心脏病的产前诊断价值。方法1103例双胎妊娠孕妇中,有胎儿先天性心脏病的高危病史孕妇127例（高危双胎组）,正常双胎妊娠孕妇976例（低危双胎组）。应用超声Yagel法对两组双胎妊娠胎儿进行心脏5个心脏横切面（胎儿腹部胃泡平面、四腔心平面、五腔心平面、三血管气管平面和动脉弓平面）快速扫描,并对诊断为先天性心脏病而引产的胎儿进行尸体解剖,以核对产前超声Yagel法诊断的正确性,同时进行胎儿染色体分析;对未引产或产前诊断未发现明显异常的胎儿进行临床随访,胎儿出生后进行新生儿或婴儿的心脏超声检查,判定产前超声Yagel法诊断的正确性。结果（1）1103例双胎妊娠中,有12例产前发现有先天性心脏病,检出率为1．09％,其中4例（33．3％,4／12）来自高危双胎组,8例（66．7％,8／12）来自低危双胎组。（2）2例双胎为两个胎儿同时患同一种先天性心脏病,其中1例双胎胎儿均为法洛四联症（TOF）,另1例双胎两个胎儿均为心脏横纹肌瘤;1例双胎为两个胎儿患不同类型异常,一胎儿为TOF,另一胎儿心脏正常,但十二指肠闭锁。上述3例患者均选择终止妊娠放弃胎儿,尸体解剖结果与产前超声诊断相同。9例双胎仅一胎儿受累为先天性心脏病,另一胎儿正常,均足月分娩或自然早产,其中7例在行新生儿心脏检查时得出的诊断与产前相同。（3）12例中,2例有先天性心脏病的双胎被发现染色体异常。（4）1091例双胎妊娠孕妇产前超声检查未发现胎儿心脏异常,但其中1例双胎中的1个胎儿出生后被诊断为室间隔缺损（VSD）,染色体异常（为21三体）。另1个胎儿正常。另1例双胎中的1个胎儿出生后被诊断为动脉导管未闭,另1个胎儿正常。（5）应用超声Yagel法产前诊断双胎先天性心脏病的敏感度为82．4％,特异度为100％。结论心脏超声Yagel法是筛查和诊断双胎妊娠中胎儿先天性心脏病的简单、有效和可靠方法,值得在临床产前诊断中推广应用。     

Ultrasound tissue characterization with the gray level histogram width of the B-mode

Objectives. We investigated fetal lung immaturity, fetal brain periventricular echodensity (PVE) and other problems related to changes in fetal tissue by non-invasive ultrasound tissue characterization, using a commonly available real-time B-mode ultrasound machine.

Methods. Histograms of a region of interest (ROI) were displayed on a B-mode screen. The base length of a histogram divided by the full gray-scale length gave the gray level histogram width (GLHW); this value is insensitive to changes in B-mode model, device gain or image depth. Any variation in the magnitude of GLHW in high-contrast images was easily corrected. Fetal lung immaturity was suspected when the fetal lung GLHW was less than that of normal fetal lung and fetal liver after 30 weeks of pregnancy. The GLHW values of fetal brain PVE were also compared to those of normal fetal brain.

Results. GLHW values were compared between the “mature fetal lung” and the “immature fetal lung” groups, as determined by the stable microbubble test: the former had 5 or more microbubbles per 1 mm² of aspirated and shaken amniotic fluid on microscopic observation, while the latter had less than 5. The sensitivity and specificity of the GLHW criterion in predicting lung immaturity were 89% and 79%, respectively, when the GLHW was less than 31%, and less than that for fetal liver. The GLHW of fetal brain PVE was significantly higher than that of normal fetal brain. The GLHW was also high in various obstetrical abnormalities and in the case of malignant gynecological masses.

Conclusion. The GLHW of B-mode images from simple real-time ultrasound imaging machines is useful for the characterization of fetal tissue.     

The value of spatiotemporal image correlation technique in the diagnosis of fetal ventricular septal defect

Objective

To investigate the value of spatiotemporal image correlation (STIC) technique in the ventricular septal defect diagnosis.

Methods

A total of 1,163 fetuses were enrolled in this study, diagnosed by fetal echocardiography and analyzed by STIC technique. We obtained effective STIC volumes from the fetus according to the Goncalves?? report, and judged fetal cardiac structure from STIC volume information again with a double-blind method. Another echocardiography was obtained during neonatal or infant period as follow-up.

Results

(1) As much as 1,062 cases were diagnosed to have normal fetal heart by fetal echocardiography, 43 cases had congenital heart disease without VSD, and 58 cases had VSD [21 cases (36.2%) were simple VSD and 37 cases (63.8%)were VSD with other heart malformation]. (2) Three fetal VSD cases (0.26%) were missed and one normal case was diagnosed as VSD after two-dimensional (2D) echocardiography. STIC technique corrected the diagnosis for two cases: one case of VSD after fetal 2D echocardiography was confirmed to be normal with STIC and neonatal heart examination; one case that was diagnosed as normal by fetal 2D echocardiography was confirmed to have VSD with STIC and neonatal heart examination.

Conclusions

The special value of STIC technique in the diagnosis of VSD had been confirmed by this study, and it had been proved as the best additional method to fetal echocardiography.     

时空关联成像-超声断层成像技术与二维超声进行产前胎儿心脏筛查的质量及效率比较

目的 探讨如何提高产前胎儿心脏超声筛查的效率.方法 以心尖四腔心为起始切面,使用时空关联成像(spatio-temporal image correlation,STIC)技术采集83例正常胎儿心脏的容积数据,利用超声断层成像(tomographic ultrasound imaging,TUI)技术进行脱机分析,获取胎儿心脏筛查所需要的9个切面,并与二维(two-dimensional,2D)超声检查的图像进行质量及分析效率的比较.结果 83例均获取满意的图像.(1)TUI对大动脉短轴的合格率显著高于2D(94.0％与84.3％,x2 =5.57,P=0.042),对其他8个切面,TUI合格率高于2D,差异无统计学意义.(2)TUI对于四腔心、五腔心、左室流出道、右室流出道和大动脉短轴切面的显示和2D达到了极好的一致性(Kappa分别为0.79、0.90、0.92、0.93和0.77);对于主动脉弓、动脉导管弓腔静脉长轴和心室短轴切面的显示和2D的一致性较好(Kappa分别为0.72、0.67、0.74和0.70).(3)STIC采集时间短于2D检查时间[(0.85±0.18) min与(5.80±1.58) min,t=3.500,P=0.000],STIC采集+TUI分析时间亦短于2D检查时间[(3.29±1.13) min与(5.80±1.58)min,t=2.877,P=0.001].结论 STIC联合TUI能方便、快捷、清晰地显示胎儿心脏筛查的9个切面,有助于提高胎儿心脏超声筛查工作的质量及效率.     

Four-dimensional ultrasonography of the fetal heart using a novel Tomographic Ultrasound Imaging display

OBJECTIVE: The objective of this study was to investigate the feasibility of examining the fetal heart with Tomographic Ultrasound Imaging (TUI) using four-dimensional (4D) volume datasets acquired with spatiotemporal image correlation (STIC). MATERIAL AND METHODS: One hundred and ninety-five fetuses underwent 4D ultrasonography (US) of the fetal heart with STIC. Volume datasets were acquired with B-mode (n=195) and color Doppler imaging (CDI) (n=168), and were reviewed offline using TUI, a new display modality that automatically slices 3D/4D volume datasets, providing simultaneous visualization of up to eight parallel planes in a single screen. Visualization rates for standard transverse planes used to examine the fetal heart were calculated and compared for volumes acquired with B-mode or CDI. Diagnoses by TUI were compared to postnatal diagnoses. RESULTS: (1) The four- and five-chamber views and the three-vessel and trachea view were visualized in 97.4% (190/195), 88.2% (172/195), and 79.5% (142/195), respectively, of the volume datasets acquired with B-mode; (2) these views were visualized in 98.2% (165/168), 97.0% (163/168), and 83.6% (145/168), respectively, of the volume datasets acquired with CDI; (3) CDI contributed additional diagnostic information to 12.5% (21/168), 14.2% (24/168) and 10.1% (17/168) of the four- and five-chamber and the three-vessel and trachea views; (4) cardiac anomalies other than isolated ventricular septal defects were identified by TUI in 16 of 195 fetuses (8.2%) and, among these, CDI provided additional diagnostic information in 5 (31.3%); (5) the sensitivity, specificity, positive- and negative-predictive values of TUI to diagnose congenital heart disease in cases where both B-mode and CDI volume datasets were acquired prenatally were 92.9%, 98.8%, 92.9% and 98.8%, respectively. CONCLUSION: Standard transverse planes commonly used to examine the fetal heart can be automatically displayed with TUI in the majority of fetuses undergoing 4D US with STIC. Due to the retrospective nature of this study, the results should be interpreted with caution and independently confirmed before this methodology is introduced into clinical practice.     

三个心脏超声切面在常见先天性心脏病产前诊断中的作用

目的 探讨三个胎儿超声心动图标准切面：四腔心切面、五腔心切面、三血管平面在发现和诊断胎儿常见先天性心脏病中的作用及对于先天性心脏病产前筛查的意义。方法 回顾2003年5月至2004年7月胎儿心脏畸形各病例的心脏超声图像，记录每一病例三个超声切面（四腔心切面、五腔心切面、三血管平面）的彩色多普勒超声图像表现，分析并总结各切面异常表现的特点。结果 （1）研究共包括胎儿心脏畸形病例26例，疾病类型包括房室间隔缺损、单纯性室间隔缺损、单心室、单心房、左心发育不良综合征、法洛四联症、右心室双出口、纠正性／完全性大动脉转位、动脉单干、主动脉瓣狭窄、肥厚性心肌病（梗阻型）、心脏肿瘤。（2）各心脏畸形病例在这三个心脏超声切面的扫查中至少有1个切面显示异常。每一类心脏畸形在这三个切面图像上均有特征性表现。（3）所有病例中二维四腔心切面（常规产科筛查切面）显示异常的比例为73％，四腔心切面未显示异常的病例包括：完全性大血管转位3例、法洛四联症1例、右心室双出口1例、动脉单干1例、主动脉骑跨伴室间隔缺损1例。（4）各标准切面获得率分别为：96．2％、88．5％、84．6％。结论 （1）四腔心切面、五腔心切面、三血管平面这三个胎儿彩色多普勒心脏超声切面探查在各类胎儿常见的先天性心脏病超声产前检查与诊断中起重要的作用。（2）与运用单个二维四腔心切面探查比较，三个切面的探查方法可提高常见先天性心脏病，尤其是胎儿心脏锥干畸形的检出率。（3）三个切面探查操作较为简便，有望成为一项胎儿先天性心脏病的筛查方法。     

Fetal nasal bone as ultrasonographic marker for trisomy 21 in a low-risk population between 18 and 22 gestational weeks

Objective. The aim of this article is to evaluate the role of the fetal nasal bone as a marker for trisomy 21 in prenatal diagnostic ultrasound (18-22 weeks) in the general population and to establish the reference values for nasal bone length at this gestational stage.

Subjects and methods. The nasal bone length was determined in 7054 consecutive fetuses among our general population who underwent the prenatal diagnostic ultrasound (18-22 weeks). Of this sample, 20 fetuses had trisomy 21. For each gestational week, the 2.5, 5, 50, 75, and 95 percentiles, mean, and standard deviation were determined.

Results. The exam was satisfactory in 6972 out of 7054 (98.8%) cases. Hypoplastic nasal bone (less than 2.5 percentile for the gestational age) was found in 11 out of 20 (55%) fetuses with trisomy 21 and in 124 out of 6952 (1.8%) normal fetuses. The measurement of nasal bone resulted in an increase in sensitivity of the second trimester screening from 14% to 43%. Tables were elaborated with reference lengths for each gestational age.

Conclusion. The detection of nasal bone hypoplasia (nasal bone absent or below the 2.5 percentile) results in an increase in sensitivity in the screening for trisomy 21 in the second trimester ultrasound in a low-risk population.     

Echogenic intracardiac focus: A review of the literature

Objective. The objective was to review the existing literature on the echogenic intracardiac focus (EIF) with an emphasis on its association with fetal aneuploidy.

Methods. A thorough bibliographic search was performed using the terms echogenic intracardiac focus and golf-ball sign.

Results. The incidence of EIF in 19 studies was about 2.4%, varying from 0.17% to 20.34%. EIF varies in different ethnic groups and can be as high as 15-30% in Asian populations. It is usually isolated and located in the left ventricle. Pathological studies have shown that EIF is caused by increased mineralization of the papillary muscles. EIF is associated with Down's syndrome but its sensitivity and positive predictive value are low.

Conclusions. The identification of an EIF is an indication to perform a detailed and accurate examination for other major or “soft” sonographic findings-markers of aneuploidy.     

胎儿部分型及过渡型房室间隔缺损的产前超声诊断特点

目的 探讨产前超声诊断胎儿部分型及过渡型房室间隔缺损的价值。方法 回顾性分析11例经尸体解剖和产后超声心动图证实的部分型及过渡型房室间隔缺损胎儿的产前超声表现,总结其声像图特征。 结果胎儿超声心动图显示,7例部分型和4例过渡型房室间隔缺损在四腔心切面均显示原发孔型房间隔缺损,二尖瓣和三尖瓣在室间隔的附着点位于同一水平,关闭时与室间隔构成“T”字形图像。7例部分型房室间隔缺损中1例伴有左室-右房通道;4例过渡型房室间隔缺损均伴有室间隔上部缺损。11例胎儿中伴有二尖瓣反流4例,二、三尖瓣反流1例,双侧桡骨缺如1例。 结论产前超声观测心脏“T”字形声像图特征对诊断胎儿部分型和过渡型房室间隔缺损具有重要临床价值,但应注意与冠状静脉窦形成的假象鉴别。     

Conotruncal anomalies in fetal life: Accuracy of diagnosis, associated defects and outcome

Objectives

To assess the accuracy of prenatal echocardiography, associated anomalies, and outcome of fetuses with conotruncal anomalies (CTA).

Study design

We searched our database for CTA prenatally diagnosed between 1990 and 2005. We included tetralogy of Fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), truncus arteriosus (TA), pulmonary atresia with ventricular septal defect (PA-VSD) and posterior malalignment type VSD with aortic arch obstruction (pmtVSD-AAO). Data of 144 fetuses with complete follow-up were retrieved and analyzed.

Results

The main reason for referral was suspected heart defect on a routine obstetric scan (72%). Most cases were detected ≤22 weeks (55%). The presence of a CTA was confirmed postnatally in 143 cases (99%), and the diagnosis of the first fetal echocardiography was correct in 126 (87.5%). Most diagnosis of TOF (33/36, 91.7%), TGA (34/38, 89.5%) and DORV (34/38, 89.5%) were proved correct. Inadequate assessment of the interventricular septum, the distal aortic arch and/or the severity of the right outflow tract obstruction accounted for most errors. The accuracy rate was lower in TA (11/14, 78.6%) and PA-VSD (4/7, 57.1%), with evaluation of the branch pulmonary arteries as the main source of discrepancies. In 7/18 incorrect cases subsequent scans allowed to obtain a correct diagnosis. Most fetuses (64%) had an isolated CTA. Thirty-seven had chromosomal anomalies (26%) but none were found in TGA. 22q11 deletion affected 8.7% of the tested patients. Nuchal translucency (NT) was above 95th centile in 19/104 cases (18%) in which NT were measured. Fifty cases were interrupted. The overall one-year survival rate was 71%, with differences between cases with and without associated defects (9/25, 36% vs. 57/68, 83.8%; p < 0.01). The uncomplicated forms of TGA and TOF had the best survival rates (100%).

Conclusions

Most CTA can be diagnosed by fetal echocardiography with a high degree of accuracy. Chromosomal defects should always be ruled out, except for simple TGA. Current survival figures in many isolated CTA, especially simple TGA and TOF, support a change in the “classical” concept that congenital heart defects detected prenatally often have the worst outlook.

Condensation

Most CTA can be diagnosed by fetal echocardiography with a high degree of accuracy. Isolated CTA are more common and most of these may have a favourable outcome.     

Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999 -- the experience of a joint fetal-pediatric cardiology unit

OBJECTIVES: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus. METHODS: From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto-neonatal outcome. RESULTS: CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age <25 weeks was 65.2%. Evolutive changes determined progressive prognostic deterioration in 21 cases (5%), consisting of semilunar valve obstructions and development of ventricular hypoplasia. CONCLUSIONS: The high association rate with extracardiac and chromosomal anomalies (29.3% and 25.9%) and the possible progressive prognostic deterioration require a multidisciplinary team for correct management and follow-up. Survival of fetuses with certain CHD is severely reduced, in comparison with postnatal figures, for the common association with aneuploidies.     

First trimester combined screening biochemistry in detection of congenital heart defects

Objective: To evaluate the performance of first trimester biochemical markers, pregnancy-associated plasma protein-A (PAPP-A), free beta human chorionic gonadotropin (fβ-hCG), and nuchal translucency (NT) in detection of severe congenital heart defects (CHDs).

Methods: During the study period from 1 January 2008 to 31 December 2011, biochemical markers and NT were measured in 31,144 women as part of voluntary first trimester screening program for Down’s syndrome in Northern Finland. Data for 71 severe CHD cases and 762 controls were obtained from the hospital records and from the National Medical Birth Register, which records the birth of all liveborn and stillborn infants, and from the National Register of Congenital Malformations that receives information about all the CHD cases diagnosed in Finland.

Results: Both PAPP-A and fβ-hCG multiple of median (MoM) values were decreased in all severe CHDs: 0.71 and 0.69 in ventricular septal defects (VSDs), 0.58 and 0.88 in tetralogy of Fallot cases (TOFs), 0.82 and 0.89 in hypoplastic left heart syndromes (HLHSs), and 0.88 and 0.96 in multiple defects, respectively. NT was increased in all study groups except of VSD group. ROC AUC was 0.72 for VSD when combining prior risk with PAPP-A and fβ-hCG. Adding NT did not improve the detection rate. With normal NT but decreased (<0.5 MoM) PAPP-A and fβ-hCG odds ratios for VSD and HLHS were 19.5 and 25.6, respectively.

Conclusions: Maternal serum biochemistry improves the detection of CHDs compared to NT measurement only. In cases with normal NT measurement but low concentrations of both PAPP-A and fβ-hCG, an alert for possible CHD, especially VSD, could be given with thorough examination of fetal heart in later ultrasound scans.     

Sonographic determination of gestational age

Objective.To review current evidence regarding sonographic determination of gestational age.

Methods.We reviewed current and available data to evaluate optimal methods of gestational age determination.

Results.First trimester estimates of gestational age based on crown-rump length and second trimester estimates of gestational age based on composite biometry are very accurate with an absolute error of less than 5 days in the first trimester and 7 days in the second trimester in most cases.

Conclusion.Ultrasound is an accurate and useful modality for assessment of gestational age in the first and second trimester of pregnancy and, as a routine part of prenatal care, can greatly impact obstetric management and improve antepartum care.     

Does prenatal diagnosis of critical congenital heart diseases influence the prereferral mortality in a center without surgical intervention?

Background: Prenatal diagnosis ameliorates some preoperative and postoperative outcomes in critical congenital heart disease (CHD). Despite large variability among anatomical defect types, nearly half of them are diagnosed antenatally. We aimed to investigate the effect of the antenatal diagnosis on prereferral mortality of infants with critical CHD in a center without cardiovascular surgery clinic.

Methods: Medical records of the neonates who were diagnosed with critical CHD between the years 2010 and 2016 in Zekai Tahir Burak Women’s health Education and Research Hospital were retrospectively reviewed for the study. Patients were divided in two groups as prenatal and postnatal regarding the time of diagnosis. Groups were compared in terms of demographical, clinical characteristics, and prereferral mortality rates.

Results: Seventy seven neonates were included in the study. Of those, 39 (50%) infants had prenatal diagnosis. Most common types of CHD were tetralogy of Fallot (TOF) with pulmonary atresia, hypoplastic left heart syndrome (HLHS), and transposition of the great arteries (TGA), respectively. Demographical and clinical characteristics were similar between the groups. Minor congenital anomalies were more common in the patients with prenatal diagnosis (41 versus 18%, p?=?.021). Blood gas parameters were similar except pCO₂ levels, which were slightly lower in the postnatal diagnosis group (p?=?.048). There was no difference with regard to prereferral mortality between prenatal and postnatal diagnosed infants.

Conclusions: Prenatal diagnosis may not be always associated with improved survival in critical CHD in a center without immediate surgical intervention opportunity.     

Prenatal diagnosis of Ebstein’s anomaly using spatio-temporal image correlation (STIC) and inversion mode

BACKGROUND: Ebstein's anomaly is a rare cardiac defect where the septal and posterior leaflets are displaced, towards the right ventricle. The leaflets are dysplastic and stuck to the ventricular wall. Its antenatal diagnosis is usually made through bidimensional echocardiography, which also has prognostic value. Recently, the technological breakthrough of three-dimensional ultrasound (3D-US) offered new diagnostic tools for congenital heart defects, less dependent on the ultrasonographer experience, when compared to two-dimensional ultrasound (2D-US). The spatio-temporal image correlation (STIC) technique allows the acquisition of the fetal heart volume and its structures as a 4D cineloop sequence showing the complete cardiac cycle. Inversion mode is a new image analysis tool for the examination of fluid-filled fetal structures that inverts the gray scale. CASE REPORT: We present a case of Ebstein's anomaly diagnosed at 26 weeks of pregnancy through bidimensional echocardiography. We emphasize its main findings in 3D-US using the STIC and inversion mode techniques.     

Prenatal diagnosis of complete atrioventricular septal defect with truncus arteriosus

Truncus arteriosus (TA) is a rare cardiac anomaly constituting less than 1% of all congenital heart defects. Its association with complete atrioventricular septal defect (AVSD) is extremely unusual and only 12 cases diagnosed postnatally or postmortem have been reported so far. We describe the first case of truncus arteriosus with AVSD to be diagnosed prenatally by fetal echocardiography.     

Counselling impact of three-dimensional imaging in perinatal consultation

Objective The medical and emotional impact of three-dimensional imaging will be reviewed in the context of perinatal consultation.

Methods A literature review on three-dimensional (3D) imaging is compared to our experience with consecutive patients referred for perinatal consultation. High-resolution two-dimensional (2D) scanning and concurrent volume-mode imaging (Aloka 1700) were available for all patients. Informed consent for three-dimensional use was obtained to document patient acceptance. Patients with superficial defects underwent typical surface rendering, with images obtained by mechanical sweep in less than 4 s. Patients with defects requiring internal rendering underwent imaging with a new sectional technique similar to 'tomogram' slices. This rapidly produces volume-rendered images in a single plane with unique three-dimensional characteristics. No post-image processing was required, allowing immediate patient feedback. All patients were followed to delivery. Post-delivery neonatal images were obtained when possible. A follow-up patient survey is reported.

Results Of 1639 consecutive patients, 2.9% were preconceptual, leaving 1591 available for high-resolution 2D scanning and concurrent volume-mode imaging (Aloka 1700). Abnormal ultrasound findings (positive examinations) were found in 537 of the 1591 ultrasound patients (33.7%). The percentage of positive scans ranged from 2% (1/50) for patients referred only for '3D' to 67.2% for patients referred for a previous suspected abnormality on screening ultrasound (236/351). There were 386 patients with structural fetal abnormalities potentially amenable to volume rendering (24.2%). Consistently improved counselling occurred for major abnormalities such as chromosomal defects (14/14), abdominal wall defect (11/11), neural tube defect (11/11), cystic hygroma/lymphangioma (9/9), skeletal dysplasia (5/5), hydrops (7/7), ovarian mass (6/6), myoma (11/14) and fetal chest mass (5/5). Moderate image concordance was seen for nuchal thickness (4/8), renal dysgenesis and dilatation (37/76), and placental mass or separation (28/49). Lowest concordance was seen for 'soft' findings such as echogenic bowel (0/15), isolated single umbilical artery (0/9) and isolated choroid plexus cysts (4/34). If we include all ultrasound patients, 3D imaging had added counselling value in 10.5% of consultative visits. In a post-delivery follow-up interview, patient acceptance was high (no refusals) and up to 87% of patients felt the 3D imaging was 'successful'. Despite this high acceptance, only 61 % thought 3D imaging should be used in routine obstetric ultrasound. The highest stated concern for routine use would be the potential added charges of the examination.

Conclusion Volume-mode imaging of fetal abnormalities can provide powerful visual concordance for discussing normal and abnormal fetal development. Complex syndromes with superficial and deep architecture are accessible with a simple volume-mode planar scanning technique. Care must be taken to consider this tool as advanced practice sonography as the potential emotional and financial impact of routinely adding three-dimensional imaging is not yet understood.     

Association of maternal diseases during pregnancy with the risk of single ventricular septal defects in the offspring – a population-based case-control study

Abstract

Objective: In general, the analytical epidemiological studies evaluated cases with congenital heart defects (CHDs) together. However, different CHD entities have different etiology, and in the vast majority of patients the underlying causes are unclear. Thus the objective of the study was to evaluate the possible etiological factors in the origin of single ventricular septal defect (VSD) after surgical intervention or lethal outcome, i.e. as homogeneous as possible.

Method: In the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities acute and chronic maternal diseases with related drug treatments and pregnancy supplements in early pregnancy were evaluated in the mothers of 1661 cases with isolated/single VSD and their 2534 matched and 38?151 all controls without defect, and 19?833 malformed controls with other isolated non-cardiac defect.

Results: There was a higher risk of VSD in the children of mothers with high fever related influenza during the critical period of VSD and this risk was limited by antifever therapy. In addition paroxysmal supraventricular tachycardia and epilepsy treated with anticonvulsant drugs associated with higher risk of VSD. Finally, the high doses of folic acid alone in early pregnancy.

Conclusions: High-fever-related maternal diseases may have a role in the origin of VSD which is preventable with antifever drug therapy, and the high doses of folic acid in early pregnancy reduced the risk of VSD.