Fetal aortic valvuloplasty for critical aortic stenosis: single-center retrospective study focusing on postnatal outcome.

OBJECTIVE: We aimed to report our experience on fetal aortic valvuloplasty (FAV) for critical aortic stenosis (AS) focusing on the postnatal evolution of the patients. METHODS: This retrospective study was approved by our local Institutional Review Board (n°2002-0128143827). All fetuses with critical AS who underwent FAV in a single center between 01/2011 and 06/2022 were included. FAV were performed under ultrasound guidance. Technical success was based upon balloon inflation across the aortic valve and improvement of the anterograde aortic flow across the aortic valve. At birth, biventricular circulation (BVC) strategy was decided assuming the left ventricle (LV) systolic and diastolic functions would ensure the systemic circulation. RESULTS: Sixty-three FAV were performed on 58 fetuses at 24.6[21.4-32.4] weeks of gestation. The procedure was successful in 52/58(89.6%) fetuses. There were 11/58(19%) in utero demises and 9/58(15.5%) terminations of pregnancy. There were no liveborn patients after the unsuccessful procedures. 38/58(65.5%) infants were delivered at a median gestational age of 38.1[29-40.6] weeks and 21/38(55.3%) of them required prostaglandin. 28/38(73.7%) [28/58(48.3%)] children entered the BVC path at birth. Among them, 20 required an aortic valvuloplasty at birth (11 percutaneous, 9 surgical) and 8 did not require any treatment at birth but of those, 5/8 underwent a surgical valvuloplasty between day 26 and day 1200 of life. 11/28(39.3%) infants with BVC at birth required a second intervention and four of them required a third intervention. Two infants who entered the BVC at birth underwent a conversion to UVC. None of the surviving children with BVC developed pulmonary hypertension. The global survival rate in case of BVC was 22/28(78.6%) at 23.3[8-112] months of life. 10 patients had UVC at birth. Among them, 6 received comfort care from birth and only 4 underwent surgery. 3/10 patients were still alive at the latest assessment (48[22-102] months). CONCLUSION: FAV for critical aortic stenosis led to anterograde aortic flow in 89.6% of the fetuses, with BVC being achieved in 48.3% (73.7% of the live born). Among patients with BVC at birth, the rate of reintervention is high but long-term survival is satisfactory. This article is protected by copyright. All rights reserved.

Pulmonary stenosis in complicated monochorionic twin pregnancies: prevalence, management and outcome.

OBJECTIVE: To review prevalence, management and prognostic factors of pulmonary stenosis (PS) in monochorionic diamniotic (MCDA) pregnancies complicated by twin-to-twin transfusion syndrome (TTTS). METHODS: Retrospective study over the last 10 years in a single referral center. We reviewed fetal echocardiography data of all MC twin cases with diagnosis of isolated PS. We assessed fetoscopy characteristics of those that underwent laser coagulation. We collected data regarding perinatal outcome, neonatal echocardiography and cardiac management. RESULTS: We found 24 cases of isolated PS among 2091 MCDA pregnancies. Among 1052 complicated MCDA that underwent fetal laser surgery, 22 (2.09%) developed PS of which 20 were diagnosed prenatally. Two cases were diagnosed in uncomplicated MCDA pregnancies (0.2%). Four of 22 (18.18%) cases with TTTS showed in utero regression after laser treatment. Thirteen newborns (65%) required valvular dilatation. Peak systolic velocities in the pulmonary artery trunk (PSV-PA) at diagnosis and the interval between the diagnosis of TTTS and that of PS were significantly different (p < 0.001 and p = 0.05 respectively) between PS requiring cardiac intervention and those who did not. CONCLUSION: An elevated PSV-PA at the time of PS diagnosis and a short time-interval between fetoscopic laser surgery and PS diagnosis are predictive of the need for interventional treatment after birth.

[Neonatal lupus syndrome: Literature review]. / « Lupus néonatal ¼ : revue de la littérature.

Neonatal lupus syndrome is associated with transplacental passage of maternal anti-SSA/Ro and anti-SSB/La antibodies. Children display cutaneous, hematological, liver or cardiac features. Cardiac manifestations include congenital heart block (CHB); endocardial fibroelastosis and dilated cardiomyopathy. The prevalence of CHB in newborns of anti-Ro/SSA positive women with known connective tissue disease is between 1 and 2% and the risk of recurrence is around 19%. Skin and systemic lesions are transient, whereas CHB is definitive and associated with significant morbidity and a mortality of 18%. A pacemaker must be implanted in 2/3 of cases. Myocarditis may be associated or appear secondly. Mothers of children with CHB are usually asymptomatic or display Sjogren's syndrome or undifferentiated connective tissue disease. In anti-Ro/SSA positive pregnant women, fetal echocardiography should be performed at least every 2 weeks from the 16th to 24th week gestation. An electrocardiogram should be performed for all newborn babies. The benefit of fluorinated corticosteroid therapy for CHB detected in utero remains unclear. Maternal use of hydroxychloroquine may be associated with a decreased recurrent CHB risk in a subsequent offspring. A prospective study is actually ongoing to confirm these findings.

Clinical course and outcome of antenatally detected atrioventricular block: experience of a single tertiary centre and review of the literature.

OBJECTIVE: The objective is to study the course and outcome of fetuses with congenital atrioventricular block (AVB) in a single centre. METHODS: Retrospective analysis of cases diagnosed prenatally with second and third degree AVB. The clinical characteristics and outcome of fetal AVB were evaluated including in utero treatment. RESULTS: Sixty-two cases were studied. AVB was associated with a congenital heart defect (CHD-AVB) in 17 cases (27%), whereas it was isolated (i-AVB) in 45 (73%), 42 of which were associated with maternal antibodies. There were nine (52.9%) live births in the CHD-AVB group, five of which (55%) resulted in infant deaths. In the i-AVB group, there were 40/45 (88.9%) live births and 1/40 (2.5%) infant death; 36 (90%) babies required a permanent pacemaker. The only factor predictive of postnatal death was the presence of CHD (5/9 vs 1/39 or 48.7 [3.6; 1457.7], p < 0.001). Nineteen fetuses (40.5%) with i-AVB received steroids in utero. No difference in outcome was found between the AVB treated in utero versus the no-treatment group in terms of permanent pacemaker placement, postnatal death or development of dilated cardiomyopathy. CONCLUSION: The most important prognostic factor for congenital AVB is the association with CHD. In utero treatment remains questionable.

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.

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.

[Cardiac retransplantation in childhood. Questions and answers]. / Retransplantation cardiaque en pédiatrie. Interrogations et réponses.

Cardiac transplantation in childhood remains a long-term palliative procedure and it is probable that an increasing number of patients undergoing this procedure in childhood will require a new transplant one day. Coronary artery disease of the transplanted heart is the main indication. The results (in terms of survival and morbidity) in the literature and in the authors' experience are encouraging and justify the indication for retransplantation in cases of severe coronary disease of the transplanted heart. The indication is not as clear-cut in transplantation performed early or as an emergency for primary graft dysfunction, which carries a high mortality. Renal failure and allo-immunisation are not contra-indications to this procedure. Occasionally, procedures of coronary revascularisation provide time to wait for a new transplant. In the absence of more effective preventive or curative treatment of coronary disease of the transplant, the good results of retransplantation justify the procedure for this indication and reinscription on the waiting list for cardiac transplantation.

[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.

Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study.

OBJECTIVES: Conotruncal malformations (CTMs) are a major feature of 22q11 microdeletion (22qdel). The prevalence of 22qdel in fetuses harboring these defects is unknown. We assessed the prevalence of 22qdel in a population of fetuses with conotruncal cardiac defects. STUDY DESIGN: Consecutive fetuses (n = 261) with a CTM and a normal karyotype were included in the study. All fetuses were screened for 22qdel by means of fluorescent in situ hybridization. RESULTS: A 22qdel was found in 54 fetuses (20.7%). The proportion of 22qdel for each CTM was: tetralogy of Fallot (14/100), pulmonary atresia with ventricular septal defect (11/61), tetralogy of Fallot with absent pulmonary valves (6/16), interrupted aortic arch (10/22), truncus arteriosus (9/29), and complex transpositions of the great arteries (4/33). Additional vascular anomalies were present in 75%. Typical abnormal facial appearance at birth or at autopsy was observed in 80%, and thymus hypoplasia, in 76%. The pregnancy was terminated in 41 of 54 cases, including an intrauterine death in one case. The 22qdel was inherited in 7.7%. CONCLUSION: Prevalence of the 22qdel is high in fetuses with CTMs. The risk of mental retardation associated with the respective risk of cardiac surgery for each type of CTM may strongly influence prenatal counseling.

Percutaneous replacement of pulmonary valve in a right-ventricle to pulmonary-artery prosthetic conduit with valve dysfunction.

BACKGROUND: Valved conduits from the right ventricle to the pulmonary artery are frequently used in paediatric cardiac surgery. However, stenosis and insufficiency of the conduit usually occur in the follow-up and lead to reoperations. Conduit stenting can delay surgical replacement, but it aggravates pulmonary insufficiency. We developed an innovative system for percutaneous stent implantation combined with valve replacement. METHODS: A 12-year-old boy with stenosis and insufficiency of a prosthetic conduit from the right ventricle to the pulmonary artery underwent percutaneous implantation of a bovine jugular valve in the conduit. FINDINGS: Angiography, haemodynamic assessment, and echocardiography after the procedure showed no insufficiency of the implanted valve, and partial relief of the conduit stenosis. There were no complications after 1 month of follow-up, and the patient is presently in good physical condition. INTERPRETATION: We have shown that percutaneous valve replacement in the pulmonary position is possible. With further technical improvements, this new technique might also be used for valve replacement in other cardiac and non-cardiac positions.

[Prenatal diagnosis of conotruncal heart diseases. Results in 337 cases]. / Diagnostic prénatal des cardiopathies conotroncales. A propos de 337 cas.

Prenatal diagnosis of conotroncal disease has developed by examination of the great arteries during morphological foetal ultrasonic scanning in the second term of pregnancy. This study reports the results of a series of 337 of these malformations diagnosed in the foetus over five and a half years. Their incidence with respect to all foetal cardiac malformations is 16.2%. Tetralogy of Fallot and pulmonary atresia with ventricular septal defect make up 56% of these cases, vascular malposition 16%, coarctation with or without interruption of the aortic arch 14%, truncus arteriosus 9% and agenesis of the pulmonary valves 5%. A karyotypic anomaly was found in 28 cases (8.2%) and, in the foetus with a normal standard karyotype, deletion of chromosome 22q11 was identified in 54 out of 237 cases. There was an associated polymalformative syndrome in 29 cases (8.3%). The training of obstetricians has increased the number of antenatal diagnoses of conotroncal abnormalities. Prenatal counselling should be given by a pluridisciplinary team because the association of these malformations with chromosomal abnormalities or with syndromes difficult to diagnose is common.

[Prenatal diagnosis of transposition of great vessels reduces neonatal morbidity and mortality]. / Le dépistage anténatal de la transposition des gros vaisseaux diminue la mortalité et la morbidité néonatales.

Transposition of the great arteries (TGA) is a common malformation which sometimes has a dramatic presentation at birth but which is completely curable with early and appropriate initial management. Antenatal diagnosis of this condition may change the neonatal prognosis. The authors compared morbidity and mortality in the pre- and postoperative periods of 68 neonates with an antenatal diagnosis of TGA (foetal diagnosis) with that of 250 neonates in whom the diagnosis was made after birth (neonatal diagnosis). The delay before admission to the department was 2 +/- 2.8 hours in the foetal group and 73 +/- 210 hours in the neonatal group (p < 0.01). Severe haemodynamic distress (metabolic acidosis, multi-organ failure) were more common in the neonatal group (p < 0.01). Management on admission was identical in the two groups (p > 0.05). The preoperative mortality was 15/250 in the neonatal group (6%, 95% CI = 3-9%) compared with 0/68 in the foetal group (p < 0.05). The postoperative morbidity was comparable in the two groups (25/235 and 6/68) but the hospital stay was longer in the neonatal group (30 +/- 17 versus 24 +/- 11 days, p < 0.01). Finally, postoperative mortality was significantly higher in the neonatal group (20/235 compared with 0/68, p < 0.01) although the risk factors of death at arterial switch surgery were identical in the two groups. Therefore, antenatal diagnosis of TGA reduces neonatal morbidity and mortality in this condition. Antenatal diagnosis must be developed by the education of obstetricians. The transfer of mothers with a foetus affected by TGA to centres capable of assuming the initial management, sometimes during labour, is essential.