Fetal Cardiac Anomalies Research Articles

Prenatal diagnosis of left ventricular aneurysm

Fetal cardiac anomalies involving the ventricular and atrial septa, outflow tracts, chambers, and valves are often encountered in routine screening. However, the prenatal detection of a fetal left ventricular aneurysm is rare. This report describes the case of a left ventricular aneurysm that was diagnosed at 24 weeks of gestation; the diagnosis was later confirmed by postnatal echocardiography. This case is reported because of its rarity and the characteristic echocardiographic findings. An early specific antenatal USG diagnosis helps in prognostication and in counseling of the parents.

Prenatal diagnosis of arterial tortuosity syndrome

Arterial tortuosity syndrome is a rare connective tissue disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries. Some patients also have excessively stretchable skin and joint laxity suggestive of a connective tissue disorder. In this report we describe a case with tortuosity of the aorta that was first detected at 35 weeks of gestation. To our knowledge, this is the first case of prenatal diagnosis of arterial tortuosity syndrome. A 23-year-old primigravida was referred to our department for suspected fetal cardiac anomaly at 35 weeks of gestation. She and her partner were consanguineous (cousins), but her medical history was unremarkable. Prenatal echocardiographic examination revealed an abnormal elongation of the pulmonary arteries and a tortuous, elongated abdominal aorta (Figure 1, a–c). Additional ultrasonographic findings were oligohydramnios, hypertelorism and scrotal mass. The family were counseled accordingly. Cordocentesis was performed, revealing a normal male karyotype (46,XY). At term the woman delivered a male infant weighing 2800 g by Cesarean section, with 1- and 5-min Apgar scores of 2 and 7, respectively. Malformations noted at birth were: inguinal hernia, keratoconus, skin and joint laxity (Figure 1d) and hypertelorism. The infant had severe hypotonia, and died in the early neonatal period from respiratory failure. The parents refused an autopsy. Although there was no confirmatory postmortem examination, the prenatal ultrasonographic and postnatal findings were strongly suggestive of arterial tortuosity syndrome. Two-dimensional ultrasound (a), power Doppler (b) and three-dimensional static power Doppler (c) images of the elongated abdominal aorta at the level of the fetal stomach at 35 weeks' gestation. (d) Postnatal photograph of the neonate; note the laxity of the skin. Connective tissue diseases—including Ehlers–Danlos syndrome, Marfan's syndrome, cutis laxa and Menkes disease—present typical features comprising hyperelastic skin, laxity of joints, chest and spine deformities, inguinal, umbilical and diaphragmatic hernia and cardiovascular anomalies. Arterial tortuosity syndrome is a rare condition characterized by elongation and generalized tortuosity of the major arteries including the aorta1-4. It is caused by mutations in SLC2A10, which encodes the facilitative glucose transporter GLUT10. The mode of inheritence seems to be autosomal recessive1. H. Aslan*, K. Gungorduk*, G. Yıldırım*, Y. Ceylan*, * Maternal and Fetal Unit, Department of Obstetrics and Gynecology, Istanbul Bakirkoy Women's and Children's Hospital, Istanbul, Turkey

Fetal cardiac scanning performed immediately following an abnormal nuchal translucency examination

To study the implications of early fetal cardiac scanning immediately following an abnormal nuchal translucency (NT) examination. Fetal cardiac scanning was performed immediately after an increased NT was observed. Scans were performed transvaginally at 11 to 14 weeks. Fetal echocardiography was repeated between 14 and 24 weeks in continuing pregnancies, or when the cardiac scanning appeared normal at 11 to 14 weeks. We performed 2513 NT examinations. An abnormal NT was observed in 135 (5.4%) patients. In addition, 65 patients with an abnormal NT were referred to us for fetal cardiac scanning from other offices. Overall, we performed 200 fetal cardiac scans between 11.2 and 13.5 weeks for an abnormal NT examination. Twelve major fetal cardiac anomalies were diagnosed between 12 and 13.5 weeks. Seven patients (58%) terminated pregnancy between 12 and 14 weeks without performing chorionic villous sampling (CVS). Five patients asked for chromosomal analysis before deciding about their pregnancy. Fetal cardiac anomalies were suspected in six additional cases, but only one of them was diagnosed. Another five minor and one major fetal cardiac anomaly were suspected at 11 to 14 weeks but diagnosed later on fetal echocardiography. Major fetal cardiac anomalies can be detected immediately following an abnormal NT examination and be useful for the patients' decisions about the management of their pregnancy.

ISUOG consensus statement: what constitutes a fetal echocardiogram?

In 2006 the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) published practice guidelines for the sonographic screening of congenital heart disease (CHD) during the second trimester of pregnancy1. This document described two levels for screening low-risk fetuses for heart anomalies. Firstly, a ‘basic’ scan should be performed by analyzing a four-chamber view of the fetal heart. Secondly, an ‘extended-basic’ scan further examines the size and relationships of both arterial outflow tracts. The term ‘fetal echocardiogram’ was also mentioned as a more detailed sonographic evaluation to be performed by specialists in the prenatal diagnosis of CHD. Although common indications and imaging techniques were briefly discussed, it was thought important to further explain how this advanced diagnostic procedure differs from the basic and extended-basic cardiac screening examinations. A Fetal Echocardiography Task Force was subsequently asked to develop a standard description of ‘what constitutes a fetal echocardiogram’. Our original goal was to develop guidelines for a detailed examination of the fetal heart that were based on the literature and a consensus opinion of an expert panel. However, we soon realized that this project was quite different from developing minimum practice guidelines for fetal cardiac screening. There are several imaging modalities that can be used to evaluate fetal heart anomalies, ranging from M-mode techniques and color Doppler sonography to the use of four-dimensional (4D) ultrasonography with spatiotemporal image correlation (STIC). Consequently, our original efforts to develop a minimum practice guideline for fetal echocardiography evolved into a consensus statement that covers the following topics:

Improving Detection of Fetal Cardiac Anomalies

Reprints are not available. Abbreviations AIUM, American Institute of Ultrasound in Medicine; CPT, Current Procedural Terminology; RVU, relative value unit e’re not as good as we’d like to be at some things, and prenatal detection of fetal cardiac anomalies is one of them. This is not news. In the United States, we’ve known this since publication of the RADIUS (Routine Antenatal Diagnostic Imaging With Ultrasound) trial in 1993, when 16% of cardiac anomalies were detected at primary practice sites, and only about one third were found even at referral practices.1 Worldwide, this one-third number is about average, as shown in a review by Todros et al2 in 1997. The poor detection rate of heart anomalies is somewhat counterintuitive. After all, isn’t our equipment better now than ever? Two factors work against us, however, both interestingly taken into account in a prescient article by DeVore et al3 that appeared in this journal in 1993. They looked at factors influencing the ability to visualize the heart and found that previous cesarean delivery and 3 cm of adipose tissue or more significantly degraded cardiac imaging. With a 30% cesarean rate in the United States and the current epidemic of obesity, it is no wonder that we have continued challenges. In this issue of the journal, Acherman and colleagues4 take a more radical approach, suggesting that fetal echocardiography should be performed on all fetuses because screening does not seem effective. This has been suggested in the past. In 1996, Stumpflen et al5 made a similar proposal after a pilot study showing a high detection rate of cardiac anomalies. However, an editorial in the same issue of The Lancet suggested that this might be an impractical approach.6 Accepting that what we do now is imperfect, we will use this platform to address some of the implications of Acherman and colleagues’ suggestion.

OC135: Ultrasound cardiac and extracardiac findings in fetuses with del22q11

Microdeletion 22q11 (DiGeorge anomaly) is the second most common chromosomal aberration found in fetal cardiac anomalies after trisomy 21. The aim of the study was to determine the patterns of cardiac and extracardiac anomalies found in fetuses with del22q11. Over 8 years, 20 fetuses with del22q11 were identified prenatally (range, 13–32 weeks). In addition to the known cardiac defects aortic interruption (n = 6) and truncus communis (n = 5), other cardiac anomalies were isolated right aortic arch (RAA) or double aortic arch. An association with a RAA was found in 9/20 cases. Absent or hypoplastic thymus was suspected in 17/20 cases. Some known extracardiac findings such as thickened NT in the first trimester and polyhydramnios in the third trimester, or mild pyelectasia were found but rare anomalies such as hexadactyly or clubfeet occurred once each. In five cases one parent was affected with del22q11 as well but this was known in advance in only one case. Examination for del22q11 should be offered when conotruncal cardiac anomalies are found. The risk of an abnormal finding increases when an associated absent/hypoplastic thymus, a right aortic arch, polyhydramnios or an extracardiac malformation is found. Parents should be offered an examination as well to rule out the risk of recurrence in another pregnancy.

P39.05: How to achieve accurate prenatal diagnosis of fetal cardiac anomalies?

P39.05: How to achieve accurate prenatal diagnosis of fetal cardiac anomalies?

OP12.02: Three‐ and four‐dimensional ultrasound—a novel method for evaluating fetal cardiac anomalies

OP12.02: Three‐ and four‐dimensional ultrasound—a novel method for evaluating fetal cardiac anomalies

Ductus venosus blood flow resistance and congenital heart defects in the second trimester

To study the association between fetal cardiac defects and the presence of abnormal blood flow resistance of the ductus venosus during the second trimester of pregnancy. This retrospective case-control study included 72 pregnancies with fetal cardiac anomalies and 267 normal pregnancies. In fetuses with cardiac anomalies, Doppler velocimetry resistances of the ductus venosus were serially determined prior to birth. The Doppler velocimetry resistances obtained from fetuses with cardiac anomalies were in turn compared with median values derived from 267 normal pregnancies to compensate for biometric bias due to gestational age. Among the 72 pregnancies with fetal cardiac anomalies, 26 fetuses showed isolated congenital heart disease (CHD) without nonimmune fetal hydrops (NIFH) (group A), 10 fetuses showed isolated CHD with severe heart defects, including atrioventricular valve insufficiency and consecutive cardiogenic NIHF (group B), and 36 fetuses showed chromosomal abnormalities, nonchromosomal extracardiac malformations, noncardiogenic NIHF, and fetal growth restriction summarized as nonisolated CHD (group C). Based on the pulsatility index for the vein of the ductus venosus, the area under the receiver operating characteristic (ROC) curves was 0.71, 0.73, and 0.86 for groups A, B, and C, respectively. In the 36 fetuses from group C, increased pulsatility index for vein of the ductus venosus (DVPIV) yielded a significant area under the ROC curve (0.86) with a sensitivity of 0.78 and a specificity of 0.78. Increased DVPIVs during the second trimester of pregnancy are highly correlated with fetal cardiac anomalies associated with chromosomal and extracardiac anomalies.

Absence of ductus venosus—importance of umbilical venous drainage site

To evaluate the conditions associated with absent ductus venosus (ADV) diagnosed by prenatal ultrasonography. Retrospective review of 23 cases with ADV diagnosed in two tertiary referral centers with a general screening policy concerning Doppler assessment of the ductus venosus. The results are discussed together with 63 cases from a review of the literature. In 19 fetuses the umbilical vein connected to the portal sinus, while the remaining four fetuses had extrahepatic umbilical venous drainage. Associated anomalies were present in 15 out of 23 fetuses: complex malformation syndromes (n = 6), chromosomal anomalies (n = 4), isolated cardiac defects (n = 4) and isolated extracardiac anomalies (n = 1). Eight fetuses had either no associated anomalies or minor anomalies. Hydropic changes were present in 12 of the 23 fetuses. In common with the reviewed cases, the presence of cardiac malformations, complex non-chromosomal malformation syndromes and hydrops was significantly associated with intrauterine or postnatal death while the type of umbilical venous drainage was not significantly different between survivors and non-survivors. However, among fetuses with no or minor associated anomalies the outcome was significantly better in the group without liver bypass. ADV is significantly associated with fetal cardiac and extracardiac anomalies, aneuploidies and hydrops. Fetuses with liver bypass have an additional risk of developing congestive heart failure that significantly affects outcome, even if the fetal cardiovascular anatomy is otherwise normal. ADV without liver bypass seems to have a more favorable prognosis if it is not associated with other malformations.

2249: The role of three vessel view in screening for fetal cardiac anomaly

2249: The role of three vessel view in screening for fetal cardiac anomaly

Cardiac screening examination of the fetus: guidelines for performing the ‘basic’ and ‘extended basic’ cardiac scan

Cardiac screening examination of the fetus: guidelines for performing the ‘basic’ and ‘extended basic’ cardiac scan

Acceleration time in the fetal middle cerebral artery during the second half of pregnancy

We made a longitudinal ultrasonographic study of 33 healthy fetuses from 22 to 38 weeks of gestation to determine the acceleration time in the middle cerebral artery (ATMCA) and its relationship with fetal cardiac output. Doppler ultrasound (US) was performed by a single observer always using the same apparatus. The Doppler tracing was obtained with a sample volume of 1 mm; placement was on the anterior middle cerebral artery, as close as possible to the skullcap. The insonation angle was kept between 5° and 19° and the wall filter was adjusted to a frequency of 50 to 100 Hz. The ATMCA was 40 ms at 22 and 26 weeks, 50 ms at 30 and 34 weeks and 60 ms at the 38th week. There was a significant positive correlation between gestational age and ATMCA values (r = 0.45, p < 0.001). The ATMCA values became significantly higher than the initial values at the 30th week of gestation ( p < 0.05). The ATMCA values for normal fetuses could be compared with those obtained during high-risk pregnancies; this would be useful for the detection of fetal cardiac anomalies. (E-mail: iggadelha@ig.com.br)

Detection of fetal cardiac anomalies in diabetic mothers: The utility of fetal echocardiography

FETAL ECHOCARDIOGRAPHY SCOTT PETERSEN, MICHAEL PITT, JANICE HENDERSON, JUDE CRINO, Johns Hopkins University, OBGYN/MFM, Baltimore, Maryland, Johns Hopkins University, School of Medicine, Baltimore, Maryland OBJECTIVE: Infants of diabetic mothers are more likely to have congenital cardiac malformations than the general population. In our institution, we obtain a four-chamber view (4CH) as well as outflow tracts (LVOT, RVOT) on all fetuses and refer pre-gestational diabetics for a fetal echocardiogram. The objective of this study was to determine the utility of a fetal echocardiogram after a normal anomaly scan. STUDY DESIGN: Pre-gestational diabetic mothers were identified who had undergone screening ultrasound and fetal echocardiography at our hospital during the last four years. A retrospective review of maternal records was conducted to obtain these study results. Neonatal records were reviewed, when available, for confirmation of antenatal findings. RESULTS: One hundren and eighty-one patients had both a sonographic 3view evaluation of the heart (4CH, LVOT, RVOT) and a fetal echocardiogram attempted, of which 146 had both completed. In this subgroup, eleven neonates (n = 67) were identified with abnormal postnatal echocardiograms. Four had clinically relevant cardiac disease which we defined as the need for surgical or medical intervention. The sensitivity for detecting clinically relevant disease was 75% (NPV 98.4%) for both sonographic methods (a VSD requiring surgical correction was not detected by either method). One fetus with a normal 3-view evaluation was found to have pulmonary stenosis with mild pulmonary and tricuspid regurgitation by fetal echocardiogram. These findings were confirmed in the neonatal period, but the child has had an uncomplicated clinical course. CONCLUSION: In our pre-gestational diabetic population, 3-view screening of the heart and fetal echocardiography have similar detection rates for cardiac anomalies. Given the high cost and limited availability of fetal echocardiography, 3-view screening alone may identify the majority of clinically important cardiac lesions. Fetal echocardiography may be reserved for suspected cardiac anomalies on a screening sonogram or patients with an incomplete study. 624 MAGNETIC RESONANCE IMAGING OF THE CERVIX DURING PREGNANCY: EFFECT OF GESTATIONAL AGE AND PRIOR VAGINAL BIRTH MICHAEL HOUSE, MARK O’CALLAGHAN, JONATHAN KINI, DANNY WU, SAMUEL PATZ, STEPHANE BAHRAMI, RAFEEQUE BHADELIA, Tufts-New England Medical Center, Maternal Fetal Medicine, Boston, Massachusetts, Tufts-New England Medical Center, Radiology, Boston, Massachusetts OBJECTIVE: To investigate how gestational age and prior vaginal birth affect cervical anatomy on MR imaging during pregnancy. STUDY DESIGN: In 56 consecutive pregnant patients referred to MRI for a suspected fetal or placental abnormality, high-resolution images of the cervix were obtained. A 1.5 Tesla system was used with a phased array surface coil. A proton density pulse sequence was chosen (TR 9900 ms, TE 10 ms). MRI image measurement was performed using a standardized image processing protocol. The following outcome variables were measured: (1) signal intensity of the cervical stroma (normalized to the signal intensity of the bladder contents); (2) cross-sectional area of the cervical canal and cervical stroma; and (3) angle of the cervix with respect to the uterus. Gestational age and obstetric history were recorded. Regression was used to determine whether the outcome variables were affected by gestational age or prior vaginal birth. RESULTS: Adequate images were obtained in 53 of 57 patients, at gestational ages 17–36 weeks. 1. Decreased contrast between the cervical stroma and the bladder was observed with increasing gestational age, reflecting increased stroma hydration. For example, the mean relative signal intensity at 20 weeks gestation was 0.84 (95% confidence interval [CI] 0.81–0.86). The mean relative signal intensity at 32 weeks was 0.92 (95% CI 0.88–0.95), a 10% increase compared to 20 weeks. 2. As gestational age increased 12 weeks, the mean cross-sectional area of the cervical canal and cervical stroma increased 31% (95% CI 0-73) and 31% (95% CI 11-55), respectively. 3. The mean anterior angle of the cervical canal was greater than the posterior angle (127 vs 95 degrees, P ! .001) and did not vary with gestational age. None of the outcome variables were affected by prior vaginal birth. CONCLUSION: MR imaging of the cervix demonstrated that increasing gestational age was associated with increased cross-sectional area and increased stroma hydration. Prior vaginal birth did not affect cervical anatomy on MR imaging.

Sinusoidal heart rate pattern: Reappraisal of its definition and clinical significance.

To address the clinical significance of sinusoidal heart rate (SHR) pattern and review its occurrence, define its characteristics, and explain its physiopathology. In 1972, Manseau et al. and Kubli et al. described an undulating wave form alternating with a flat or smooth baseline fetal heart rate (FHR) in severely affected, Rh-sensitized and dying fetuses. This FHR pattern was called 'sinusoidal' because of its sine waveform. Subsequently, Modanlou et al. described SHR pattern associated with fetal to maternal hemorrhage causing severe fetal anemia and hydrops fetalis. Both Manseau et al. and Kubli et al. stated that this particular FHR pattern, whatever its pathogenesis, was an extremely significant finding that implied severe fetal jeopardy and impending fetal death. UNDULATING FHR PATTERN: Undulating FHR pattern may be due to the following: (1) true SHR pattern; (2) drugs; (3) pre-mortem FHR pattern; (4) pseudo-SHR pattern; and (5) equivocal FHR patterns. FETAL CONDITIONS ASSOCIATED WITH SHR PATTERN: SHR pattern has been reported with the following fetal conditions: (1) severe fetal anemia of several etiologies; (2) effects of drugs, particularly narcotics; (3) fetal asphyxia/hypoxia; (4) fetal infection; (5) fetal cardiac anomalies; (6) fetal sleep cycles; and (7) sucking and rhythmic movements of fetal mouth. DEFINITION OF TRUE SHR PATTERN: Modanlou and Freeman proposed the following definition for the interpretation of true SHR pattern: (a) stable baseline FHR of 120-160 bpm; (b) amplitude of 5-15 bpm, rarely greater; (c) frequency of 2-5 cycles per minute; (d) fixed or flat short-term variability; (e) oscillation of the sinusoidal wave from above and below a baseline; and (f) no areas of normal FHR variability or reactivity. Since its early recognition, the physiopathology of SHR became a matter of debate. Murata et al. noted a rise of arginine vasopressin levels in the blood of posthemorrhagic/anemic fetal lamb. Further works by the same authors revealed that with chemical or surgical vagotomy, arginine vasopressin infusion produced SHR pattern, thus providing the role of autonomic nervous system dysfunction combined with the increase in arginine vasopressin as the etiology. SHR is a rare occurrence. A true SHR is an ominous sign of fetal jeopardy needing immediate intervention. The correct diagnosis of true SHR pattern should also include fetal biophysical profile and the absence of drugs such as narcotics.

The sonographic approach to the detection of fetal cardiac anomalies in early pregnancy.

Transvaginal sonography enables imaging of the fetal heart in various planes and directions in early pregnancy. This study summarizes our experience in early detection of fetal cardiac anomalies. Transvaginal sonographic examination was performed in 36 323 consecutive fetuses in both high- and low-risk pregnancies. More than 99% of cases were evaluated at 14-16 weeks' gestation. Examination of the cardiovascular system did not rely on still images of the classic views but instead was performed in a dynamic mode visualizing the heart and great vessels from different directions and in various scanning planes. Cardiac anomalies were detected in 173 fetuses, giving an overall incidence of 1 in 210 pregnancies. In 44% of these, the cardiac anomaly was isolated. An abnormal karyotype was detected in 27 of the 72 cases that underwent chromosomal analysis. An abnormal nuchal translucency finding was observed in 59 fetuses. The sonographic diagnosis was confirmed after delivery or at postmortem in 90 cases. Ten fetuses had a cardiac anomaly which differed from the anomaly suggested by sonography. In the remaining cases, a postmortem examination was not possible because termination of pregnancy was performed by dilatation and curettage. In four cases we did not detect the cardiac anomaly in early pregnancy. Two of them were detected at rescanning in mid-pregnancy. Early detection of fetal cardiac anomalies is now possible. Most anomalies occur in low-risk pregnancies. We suggest performing a detailed early multidirectional dynamic continuous sweep ultrasound examination of the fetal cardiovascular system in all pregnancies.

Diagnosis of congenital cardiac defects between 11 and 14 weeks' gestation in high-risk patients.

To examine the feasibility of diagnosing congenital cardiac defects between 11 and 14 weeks' gestation in a high-risk population. Fetal echocardiography was first offered at 11 to 14 weeks' gestation to all patients at risk for congenital heart defects. Echocardiography performed at 11 to 14 weeks with normal results was repeated at 14 to 16 and 20 to 24 weeks. Final diagnoses of cardiac anomalies that had been observed at 11 to 14 weeks were established at 14 to 16 weeks or later Fetal echocardiography performed at 14 to 16 weeks with normal results was repeated at 20 to 24 weeks. Ascertainment of cardiac anomalies was obtained by postnatal echocardiography or pathologic examination of the fetal heart after termination of pregnancy. Most of the examinations were performed transvaginally until 16 weeks. The transabdominal approach was used at this stage only when patients refused the transvaginal examination or because of technical difficulties. Three hundred ninety-two fetal echocardiographic examinations were performed between 11 and 14 weeks' gestation; 438 examinations were performed between 14 and 16 weeks; and 777 examinations were performed between 20 and 24 weeks. The major indications for fetal echocardiography at 11 to 14 weeks were maternal diabetes and previous pregnancy with congenital heart defects. Six of 7 major fetal cardiac anomalies were detected. The only major cardiac anomaly that was not detected between 11 and 14 weeks was correctly diagnosed at 22 weeks. Only 1 of 5 minor fetal cardiac anomalies was detected between 11 and 14 weeks. Another 2 minor fetal cardiac anomalies were detected at 23 weeks. Four incorrect diagnoses of minor cardiac anomalies were excluded on repeated fetal echocardiography between 20 and 24 weeks. The initial attempt to diagnose congenital heart defects should be offered at 11 to 14 weeks' gestation.

Diagnosis and management of fetal cardiac anomalies: 10 years of experience at a single institution.

To assess the diagnostic accuracy of fetal echocardiography and the outcome of cardiac malformations diagnosed in utero. A retrospective study. The archives of our ultrasound laboratory were searched for fetal cardiac abnormalities in the period 1991-2001. Diagnosis of a fetal cardiac anomaly was made in 339 pregnancies at a mean gestational age of 26.2 weeks. Pathology or a detailed postnatal follow-up was available in 260 cases, and the prenatal diagnosis was accurate in 236 cases (91%). Discrepancies included nine false positive diagnoses (six ventricular septal defects and three coarctation of the aorta) and 15 cases in which a cardiac anomaly different from the one suspected in utero was documented. Of the 142 fetuses with isolated cardiac malformations (no extracardiac anomalies, normal chromosomes) that were delivered in our center, 114 were alive (80.2%) at a mean follow-up of 38 months (range, 1-120 months). In this group of patients, conotruncal anomalies and univentricular lesions were the most frequent types of anomaly, and had a survival rate of 87% and 57%, respectively. Hypoplastic left heart was the most frequent isolated congenital heart defect in infants that were delivered (19 cases) and it was associated with a survival rate of 37%. In expert hands, fetal echocardiography is highly accurate. The long-term prognosis of cardiac lesions diagnosed in utero is similar to that reported in series of infants diagnosed after birth. The only exception is hypoplastic left heart in which the survival rate is much lower than expected from postnatal studies.

Early diagnosis of fetal cardiac anomalies by transvaginal echocardiography in a high risk population

Objective: To examine the accuracy of early transvaginal fetal echocardiography (TV‐echo) performed in a high risk population.Methods: A series of 70 high risk pregnancies were screened by TV‐echo at 12–17 weeks gestation between March 2000 and May 2001. A total of 74 fetal heart examinations were performed, including four twin pregnancies. For each fetus, visualization of the four chamber view, the origin of the great arteries, aortic and arterial ductal arches was attempted in a segmental approach. B‐mode and color/pulsed Doppler flow imaging were used in all cases, while M‐mode was occasionally performed. The average duration of complete heart examination was approximately 30 min. All the examinations were performed by the same experienced operator. Reliability was assessed by conventional transabdominal echocardiography at 20–22 weeks, by postnatal follow up in the first three months of life, and/or by autopsy in cases of termination of pregnancy.Results: The rate of successful visualization of the fetal heart was 90.5% (67/74). In 12 out of 74 fetuses the final diagnosis was abnormal (16.2%), including 10 structural heart abnormalities and two cases of heart dysfunction. In 8 out of 10 cases with structural heart defects, the diagnosis was suspected at early TV‐echo. In three cases, although the main diagnosis was correct, details of cardiac defects were missed at early TV‐echo. Among the heart defect group, five cases had an abnormal karyotype (41.7%) and nine cases showed extra‐cardiac anomalies (75%). There were two false negative cases at early TV echo (two cases of hypoplastic left ventricle). There were no false positive diagnoses. In our series, the sensitivity to detect congenital heart defects was 83% by early TV‐echo and 80% by conventional transabdominal echocardiography.Conclusions: Early high‐frequency TV‐echo can provide a comprehensive assessment of the fetal heart. The high rate of successful visualization of the fetal heart provides a reliable diagnosis of major cardiac defects at this early stage of pregnancy. However, at present this examination should be restricted to high risk pregnancies.

Early diagnosis of fetal cardiac anomalies by transvaginal echocardiography in a high-risk population

Objective To examine the accuracy of early transvaginal fetal echocardiography (TV-echo) performed in a high-risk population.Methods A series of 70 high-risk pregnancies were screened by TV-echo at 12–17 weeks' gestation between March 2000 and May 2001. A total of 74 fetal heart examinations were performed, including four twin pregnancies. For each fetus, visualization of the four-chamber view, the origin of the great arteries, and the aortic and arterial ductal arches was attempted in a segmental approach. B-mode and color/pulsed Doppler flow imaging were used in all cases, while M-mode was occasionally performed. The average duration of complete heart examination was approximately 30 min. All the examinations were performed by the same experienced operator. Reliability was assessed by conventional transabdominal echocardiography at 20–22 weeks, by postnatal follow-up in the first 3 months of life, and/or by autopsy in cases of termination of pregnancy.Results The rate of successful visualization of the fetal heart was 90.5% (67/74). In 12 out of 74 fetuses, the final diagnosis was abnormal (16.2%), including ten structural heart abnormalities and two cases of heart dysfunction. In eight out often cases with structural heart defects, the diagnosis was suspected at early TV-echo. In three cases, although the main diagnosis was correct, details of cardiac defects were missed at early TV-echo. Among the heart defect group, five cases had an abnormal karyotype (41.7%) and nine cases showed extracardiac anomalies (75%). There were two false-negative cases at early TV-echo (two cases of hypoplastic left ventricle). There were no false-positive diagnoses. In our series, the sensitivity to detect congenital heart defects was 83% by transvaginal earl echocardiography and 80% by conventional transabdominal scan.Conclusions High-frequency TV-echo can provide a comprehensive assessment of the fetal heart and can be achieved by 13–16 weeks' gestation. The high rate of successful visualization of the fetal heart provides a reliable diagnosis of major cardiac defects at this early stage of pregnancy. However, at present, this examination should be restricted to high-risk pregnancies.