Prenatal diagnosis of isolated total anomalous pulmonary venous connection: a series of 10 cases.

OBJECTIVES: To report on a series of 10 fetuses with prenatally diagnosed isolated total anomalous pulmonary venous connection (TAPVC), focusing on echocardiographic features leading to diagnosis, assess accuracy of prenatal diagnosis and describe postnatal outcome. METHODS: In this review of our experience of prenatal diagnosis of isolated TAPVC, we analyzed retrospectively medical records and fetal echocardiography findings in all cases with prenatal diagnosis of isolated TAPVC delivered between 1 January 2001 and 1 October 2011 at a tertiary referral center, paying special attention to echocardiographic signs that led to referral. RESULTS: During the study period, 95 infants with isolated TAPVC were seen at the center. Initially, expert fetal echocardiography identified 14 fetuses with isolated TAPVC. Prenatal diagnosis was made at a mean gestational age of 31 (range, 25-37) weeks. Ten true-positive cases of TAPVC were confirmed after birth. The remaining four were considered false-positive cases: two had normal heart with left superior vena cava to coronary sinus, one had partial anomalous venous connection and one was lost to follow-up. Of the 85 diagnosed postnatally with TAPVC, only one had been seen prenatally by an expert cardiac sonographer. Echocardiographic signs leading to referral were related to pulmonary venous connection in half of the cases. Other suspected defects which led to referral were ostium prium atrial defect (n = 3), left-right asymmetry (n = 1), abnormal mitral valve (n = 1) and hepatic vascular malformation (n = 1). All infants with TAPVC underwent surgery. There was one postoperative death and nine survivors, with a mean follow-up of 31 (range, 2-104) months. CONCLUSION: Fetal diagnosis of isolated TAPVC is challenging even for experts. Echocardiographic anomalies may appear late in gestation. New tools should be proposed to identify abnormal venous drainage at the screening level.

[Prenatal diagnosis of aorta coarctations]. / Diagnostic prénatal des coarctations de l'aorte.

Coarctations of the aorta can be associated with severe neonatal consequences. Screening for and diagnosis of this prenatal malformation remain difficult. We review the various tools currently available to us, and their respective limits, to minimize the rate of false negatives and false positives associated with prenatal screening for this situation.

[First trimester fetal cardiac scanning for fetuses at higher risk for congenital heart disease]. / Place de l'échocardiographie foetale au premier trimestre pour les situations à risque accru de cardiopathie congénitale.

OBJECTIVE: To describe the preliminary results of fetal cardiac scanning in the first trimester of pregnancy for fetuses at higher risk for congenital heart defect (CHD). PATIENTS AND METHODS: Echocardiographic examination was performed at 12 to 14+6 in 67 patients at higher risk for fetal CHD. The indications for referral were: increased nuchal translucency more or equal to 99(e) centile (56 cases), risk of recurrence for CHD (eight cases), embryonic toxic exposure (eight cases), maternal disease (four cases). RESULTS: Complete examination of the fetal heart was possible in 54/55 cases. Fetal cardiac examination was normal in 58 cases (87 %). Six cases of severe CHD were diagnosed: hypoplastic left heart syndrome, pulmonary atresia with intact septum, complex univentricular CHD leading to termination of pregnancy, conotroncal Fallot like abnormality, and transposition of great arteries. Post-mortem examination was performed in three cases and confirmed the cardiac anomalies. DISCUSSION AND CONCLUSION: Our preliminary results confirmed that fetal heart scanning is feasible at the end of the first trimester of pregnancy. Severe CHD are amenable to prenatal diagnosis in the first trimester in the population at higher risk for CHD.

Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex.

OBJECTIVES: To determine the prevalence of specific cerebral lesions of tuberous sclerosis complex (TSC) and neurological outcome in cases diagnosed prenatally with cardiac rhabdomyomas. METHODS: We reviewed all fetuses diagnosed prenatally with cardiac rhabdomyomas which had undergone detailed ultrasound evaluation and cerebral magnetic resonance imaging (MRI) and which were recorded in the database of a single institution covering the period January 1992 to December 2005. RESULTS: Fifty-one fetuses were included in the study. MRI was performed at a mean +/- SD gestational age of 30 +/- 3 gestational weeks and showed specific lesions of TSC in 49% of cases. Termination of pregnancy was chosen by the parents in 26 cases. Neurological development was studied in 20 cases, follow-up lasting 4.8 +/- 2.9 years. Neurodevelopmental events occurred during the follow-up period in 45% of cases. Neurological complications occurred in 67% of patients who had cerebral lesions at MRI and in 33% of patients with normal MRI results. There was no significant difference between the two groups of patients (P = 0.2). CONCLUSION: In fetuses with cardiac rhabdomyomas detailed ultrasound examination and third-trimester cerebral MRI are able to diagnose most TSC cerebral lesions, but fail to determine neurological outcome.

[Prognosis of atrioventricular canal in euploid foetus without abnormality of atrial situs]. / Pronostic des canaux atrioventriculaires chez les foetus euploïdes sans anomalie du situs atrial.

Atrioventricular septal defects are commonly diagnosed during fetal life. Postnatal prognosis of atrioventricular septal defects associated with trisomy 21 and with heterotaxia sequences are relatively well known. However, predicting postnatal outcome in fetus with atrioventricular septal defects and normal chromosome and normal atrial situs remains a challenge. In a series of 141 fetal atrioventricular septal defects, we analyzed 80 fetuses with normal karyotype. Twenty-seven had an abnormal atrial situs. One fetus was lost for follow-up. Finally, 52 fetuses were included in the study. Termination of pregnancy was performed in 18 cases (34%). Six fetuses died in utero (18% of ongoing pregnancies). Twenty eight infants were born alive, 2 of them were lost for follow-up right after birth and 3 live born infants died postanatally (11%). Postoperative mortality was 3/15 (20%). Complete repair was proceed for 13 infants, palliative repair for 2; and 8 infants didn't have surgery at the end of follow-up because of partial or intermediate atrioventricular septal defect. The only factor significantly associated with poor outcome was the small size of the left ventricle. Isolated atrioventricular septal defects are of poor cardiac prognosis particularly when associated with left heart obstructions.

[Is antenatal diagnosis of coarctation of the aorta possible?]. / Le diagnostic anténatal de la coarctation de l'aorte est-il possible?

Antenatal diagnosis of coarctation of the aorta is difficult but primordial because it reduces the mortality due to this malformation by early treatment of the neonate. Echocardiography allows identification of groups at high risk but does not predict with certainty the constitution of a coarctation after birth. The authors review their experience of 202 foetus at risk of coarctation. Of the 167 known live births, 19% finally developed a coarctation. The predictive factors of coarctation were early diagnosis in the second trimester of pregnancy, a ratio of pulmonary artery diameter to aortic diameter greater than 1.6, the presence of a left superior vena cava and bicuspid aortic valve, the diagnosis of which is more often postnatal but which enables prediction of coarctation with nearly 90% accuracy when ventricular asymmetry has been identified at an early stage. It is therefore important to look for these echocardiographic signs which are an aid to antenatal diagnosis of coarctation and better identify subjects at risk. In fact, the finding of ventriculo-arterial asymmetry alone leads to the taking of unnecessary precautions in 80% of cases and anguish to parents who end up with a baby with a normal heart.

[Prognosis of isolated atrioventricular block in children. Single center study of 135 cases]. / Pronostic des blocs auriculo-ventriculaires isolés de l'enfant, étude monocentrique de 135 cas.

INTRODUCTION: Isolated complete atrio-ventricular (AV) block in children occurs in anatomically normal hearts in the absence of any known predisposing factor likely to have caused the block. This study aimed to define the current prognosis of these conduction disorders. METHODS: 135 patients with isolated complete AV block, diagnosed before the age of 15 years, were included in this monocentric, retrospective study. RESULTS: 52.6% of the cases were diagnosed in the antenatal or neonatal period, demonstrating their congenital nature. The disease was heralded by symptoms in only 6.7% of cases. A search for maternal anti-Ro/La antibodies was performed in 111 of the patients. It was positive in 56 cases, and was associated with an early diagnosis, a short delay in cardiac pacemaker implantation, and the occurrence of cardiomyopathy (16 cases), the latter representing a critical point in the progression of the disease (37.5% mortality at 6 years). Among the 55 cases not associated with antibodies, 2 cases were familial and no etiology was discovered in the others. The diagnosis was therefore made later, and no progression to cardiomyopathy was noted. A cardiac pacemaker was implanted in 122 patients (66 epicardial, 56 endocardial). CONCLUSIONS: Isolated complete AV block in children is not a homogenous entity: 'immunological' blocks are genuinely congenital and their prognosis remains grave, owing to the risk of cardiomyopathy, which is sometimes diagnosed late. The other types of block are diagnosed much later in childhood, and their mechanism is still unknown. They have a good prognosis as long as the indications for pacing the child are respected.

Rendering in fetal cardiac scanning: the intracardiac septa and the coronal atrioventricular valve planes.

OBJECTIVE: In this study we aimed to apply spatio-temporal image correlation (STIC) rendering to visualize the virtual planes of the interventricular and interatrial septa (IVS, IAS) as well as the atrioventricular (AV) annuli plane just distal to the semilunar valves (coronal atrioventricular (CAV) plane) in normal and pathological fetal hearts, to ascertain whether these planes add to fetal cardiac examination. METHODS: Unselected gravidae presenting for anatomy scan or patients referred for fetal echocardiography in the second and third trimesters of pregnancy with suspected or diagnosed cardiac malformation were scanned using the five planes technique with the STIC modality to obtain cardiac volume sets for each patient. Rendering capabilities were employed to obtain the 'virtual planes' to evaluate the IVS, IAS, AV annuli, and size and alignment of the great vessels. RESULTS: A total of 136 normal scans were performed to establish a learning curve for STIC acquisition and post-processing rendering and analysis. An additional 35 cases with cardiac anomalies were accrued. In 131/136 (96.3%) normal scans the IAS and IVS were visualized successfully, while in 127/136 (93.4%) normal fetuses the CAV plane was successfully visualized. In 13 anomalous cases the IVS plane improved ventricular septal defect (VSD) evaluation, and in four the IAS plane contributed to foramen ovale evaluation. The modality improved visualization of the septa and the assessment of the defects, as well as the foramen ovale flap and pattern of movement of the foramen ovale. In five cases the CAV plane improved evaluation of the alignment of the major vessels in relation to the AV annuli, and in three the evaluation of the semilunar valves, with or without malalignment of the great vessels. CONCLUSIONS: Rendering STIC technology allows the visualization of virtual planes (IAS, IVS, AV annuli-CAV plane), which can clarify our understanding of anatomical defects and may improve communication with the management team and family.

[Obstetrical management of patients at risk of neonatal lupus syndrome: review of the literature]. / Prise en charge obstétricale des patientes à risque de "lupus néonatal"

Fetuses and infants of women with anti-SSA/Ro and anti-SSB/La antibodies are at risk of neonatal lupus syndrome, featuring skin lesions, hematological and hepatic disorders, and congenital heart block (CHB) in the absence of severe cardiac malformation. The prevalence of CHB in newborns of anti-SSA/Ro positive women with known connective tissue disease is 1 to 2% and the risk of recurrence ranges from 10 to 17%. CHB is definitive and is associated with significant morbidity (pacemaker must be implanted in 2/3 of cases) and mortality (16 to 19%). Myocardial involvement may either be associated or appear subsequently. Other manifestations are discussed. For anti-SSA/Ro positive pregnant women, echocardiograms should be performed every 2 weeks from 16 to 24 weeks of gestation, and every week in case of past history of CHB. Electrocardiogram should be performed in the first days of life for all children to detect incomplete CHB. Therapy for CHB detected in utero is based on fluorinated steroids, especially betamethasone. Its efficiency is variable.

[An update on the fetal circulation]. / Mise au point sur la circulation foetale.

The fetal circulation has been an exciting area of study for centuries. The principles which grew from the period of hypotheses have been demonstrated in several animal models. These experiments have shaped the major concept of fetal circulation. More recently, the improvement in ultrasound technology has allowed a non invasive study of the fetal circulation in humans. Although the general schema of the fetal circulation has been confirmed in humans, in some aspects some substantial differences have been demonstrated. They may not only reflect some inter-species differences, but also underscore the limitation of chronically instrumented animal studies.

Diminutive fetal left ventricle at mid-gestation associated with persistent left superior vena cava and coronary sinus dilatation.

In a fetus with a small left ventricle diagnosed at mid-gestation, a persistent left superior vena cava connected to a dilated coronary sinus was detected. Although the size of the mitral annulus appeared to be normal, opening of the mitral valves was restricted in diastole. Echocardiographic follow-up showed no significant growth of the left ventricle and termination of pregnancy was carried out at 31 weeks at the parents' request. In addition to the prenatal findings, postmortem examination revealed a small mitral annulus with abnormal insertion of the mitral valve chordae tendineae. We hypothesized that abnormal venous return to a dilated coronary sinus may have led to mitral valve dysfunction and hypoplasia. On the other hand the left ventricular hypoplasia we observed may have involved a global abnormality of the left-sided cardiac structures.

Fetal hypertension: an insight into the pathogenesis of the twin-twin transfusion syndrome.

OBJECTIVES: To investigate if systemic hypertension occurs in fetuses with twin-to-twin transfusion syndrome (TTTS). METHODS: We conducted an observational cohort study in a tertiary care centre in 23 pregnant women with TTTS. Polyhydramnios stuck twin sequence occurred at a median gestational age of 22 weeks (range 15-27). Biventricular myocardial hypertrophy was diagnosed in 22/23 recipient fetuses. In cases with atrioventricular valve regurgitation (AVR), it was possible to estimate the fetal systolic systemic blood pressure by ultrasound, on the basis of the simplified Bernouilli equation. The diagnosis of fetal hypertension (FHT) was made when the estimated systolic arterial pressure was equal to or above 1.6-fold the expected value. RESULTS: In 10 pregnancies (group A), fetal blood pressure could be assessed in recipients with AVR. The maximum velocities ranged from 2.9 to 5 m/s, leading to estimates of systemic fetal arterial pressure from 37 to 104 mmHg, that is, 1.6- to 2.8-fold the expected values. In 13 pregnancies (group B), fetal blood pressure could not be assessed in the absence of AVR. In group A, perinatal death (16/20) and hydrops (7/20) were significantly more frequent than in group B (8/26 and 1/26 respectively). CONCLUSION: Fetal systemic hypertension may occur in recipient twins and could play a role in the pathophysiology of TTTS.

[Results of prenatal management of fetuses with supraventricular tachycardia. A series of 66 cases]. / Résultat de la prise en charge prénatale des foetus avec tachycardie supra-ventriculaire. A propos d'une série consécutive de 66 cas.

OBJECTIVE: To describe the prenatal management and outcome of a series of 66 fetuses with supraventricular tachycardia (SVT). MATERIAL AND METHODS: The perinatal data of 66 fetuses with SVT were retrospectively studied from January 1990 to December 2000. Junctional tachycardia was found in 50 fetuses and atrial flutter was found in 16 fetuses. Two groups were studied depending on the absence (n=40) or the presence of hydrops (n=26) at the time of the diagnosis. All fetuses but one were treated prenatally via the mother. Anti-arrhythmic drugs used were: digoxin, sotalol, flecainide or amiodarone. RESULTS: Group of fetuses with no hydrops: digoxin was used in 32 cases and allowed 26 fetuses to be converted to sinus rhythm (80%). One intra uterine death (IUD) occurred in this group. Hydropic fetuses group: nine fetuses were converted to sinus rhythm using either flecainide (n=7) or amiodarone (n=2) as first line therapy, whilst digoxin alone or in association with sotalol failed to restore sinus rhythm in all cases. After first line therapy, SVT persisted in 10 fetuses. Nine fetuses received amiodarone alone or in association with digoxin as second line therapy, five of whom were converted to sinus rhythm. Among the 18 alive neonates treated by amiodarone in utero, three presented elevated thyroid stimulating hormone at day 3-4 and required thyroid hormonal substitution therapy for 2-6 months with normal outcome.

Middle cerebral artery Doppler in fetuses with transposition of the great arteries.

OBJECTIVE: A previous anthropometric study has shown that neonates with transposition of the great arteries have a smaller head circumference and intracranial volume, which may be related to a lower oxygen content of blood delivered to the head and upper extremities. The aim of this study was to compare Doppler blood flow velocity waveforms in fetuses with transposition of the great arteries with those in healthy fetuses. METHODS: Doppler blood flow velocimetry was performed in the middle cerebral artery, the umbilical artery, the aorta and the ductus venosus in a consecutive series of 23 fetuses with transposition of the great arteries between 36 and 38 weeks' gestation. The control group consisted of 40 healthy fetuses matched for gestational age. RESULTS: There was no significant difference in pulsatility indices in the umbilical artery, the aorta and the ductus venosus between fetuses with transposition of the great arteries and controls. The median middle cerebral artery pulsatility index in the group with transposition of the great arteries was 1.37 (range, 1.10-2.02) and was significantly lower than that in the control group (median, 1.68; range, 1.46-2.04) (P < 0.001, Mann-Whitney test). CONCLUSIONS: The lower pulsatility indices observed in the middle cerebral artery of fetuses with transposition of the great arteries may reflect a trend towards cerebral vasodilation. This phenomenon could be an indicator of hypoxemia and/or hypercapnia restricted to areas perfused by the preisthmus aorta and be related to the characteristics of the circulation in fetuses with transposition of the great arteries.

Prenatal ultrasound may predict fetal response to therapy in non-hydropic fetuses with supraventricular tachycardia.

OBJECTIVE: To study the fetal response to prenatal therapy in non-hydropic fetuses with supraventricular tachycardia (SVT) as a function of fetal haemodynamic status at presentation. STUDY DESIGN: Retrospective study. MATERIAL AND METHODS: Between 1990 and 2000, 40 non-hydropic fetuses presented with SVT. Twenty-eight had reciprocating SVT and 12 had atrial flutter. Ten fetuses had significant tricuspid valve regurgitation. All fetuses were treated prenatally. The main outcome measurement was fetal response to therapy as assessed by the rate of prenatal SVT reduction and by the mean time interval to sinus rhythm restoration. RESULTS: The mean gestational age at presentation was 29 +/- 4.9 weeks. Overall, there were 39 live births and 1 intrauterine death. Reduction of SVT was achieved prenatally in 32 cases (80%). Among the 30 cases without tricuspid regurgitation, prenatal conversion to sinus rhythm was achieved in 27 cases (90%) with a mean time interval of 7 days. Among the 10 fetuses presenting with tricuspid regurgitation, the rate of prenatal conversion was significantly lower (5/10) and the mean time interval to conversion was significantly longer (24 days; p = 0.04, Mann-Whitney test). In the subgroup treated by digoxin as first-line therapy (n = 32), the interval to sinus rhythm restoration was also significantly higher in the presence of tricuspid regurgitation, with a slightly but not significantly lower reduction rate. CONCLUSION: The response to prenatal therapy may be poorer in cases presenting with tricuspid regurgitation.

Perinatal management of fetal cardiac anomalies in a specialized obstetric-pediatrics center.

Perinatal teams dealing with fetal heart disease frequently wonder which pregnancies might be terminated, and when delivery should take place in a specialized surrounding. We present a retrospective study of 229 fetuses, in which prenatal ultrasound showed a cardiac anomaly not compatible with a standard maternity ward delivery. One hundred nineteen pregnancies were terminated (group I) while 110 pregnancies led to the birth of a live baby (group II). Pathology in group I was discovered earlier than in group II (24 vs. 29.3 weeks' gestation; p <0.01), and associated malformations or chromosomal anomalies were much more frequent in group I (80/119 vs. 9/110; p <0.001). Among live born babies, three infants with transposition of the great arteries underwent Rashkind atrioseptostomy in the delivery room. With a minimum follow-up of 12 months, 69 children (63%) have undergone surgery. Among 92 survivors (1 child is lost to follow-up), 78 (71%) are asymptomatic and 14 symptomatic. Early prenatal diagnosis of fetal heart anomalies significantly facilitates prenatal work-up and perinatal care. We present the types of pathology having led to termination and define the situations in which children are at risk of perinatal hemodynamic compromise.

Pathogenesis of twin-twin transfusion syndrome: the renin-angiotensin system hypothesis.

In spite of active perinatal management, twin-twin transfusion syndrome (TTTS) remains a severe disease with a high risk of neonatal mortality and morbidity. TTTS initially results from an unbalanced blood flow from a donor to a recipient twin. However, its pathogenesis remains unclear, although cardiovascular disturbances and regulation of fetal volemia and diuresis seem central in this syndrome. Previously, we demonstrated that the renin-angiotensin system (RAS) was up-regulated in donor twins as a consequence of hypovolemia, and down-regulated in recipients. This was the first evidence of the implication of the RAS in TTTS. We hypothesize that the RAS plays a key role in the pathogenesis of TTTS. In the donor, RAS up-regulation aggravates oligohydramnios and may increase arterial resistance, which could contribute to placental dysfunction leading to intrauterine growth restriction. In the recipient, paradoxical RAS activation, due to transfer of effectors such as angiotensin II through placental shunts, could explain fetal vascular disturbances and cardiomyopathy. According to our hypothesis, TTTS would appear similar to the classical model of hypertension referred to as '2 kidneys-1 clip' with a donor twin, comparable to the clipped kidney, intoxicating its cotwin, comparable to the normal kidney.