Search

Objective: To report our experience of fetal aortic valvuloplasty (FAV) for critical aortic stenosis (AS), with a focus on the postnatal evolution of the patients. Methods: This was a retrospective study including all fetuses with critical AS which underwent FAV in a single center between January 2011 and June 2022. FAV was performed under ultrasound guidance. Technical success was based upon balloon inflation across the aortic valve and improvement of the antegrade aortic flow across the aortic valve. At birth, a biventricular circulation (BVC) strategy was decided assuming the left ventricular (LV) systolic and diastolic function would ensure the systemic circulation. Results: Sixty‐three FAV procedures were performed in 58 fetuses, at a median (range) gestational age of 26.2 (20.3–32.2) weeks. The procedure was technically successful in 50/58 (86.2%) fetuses. There were 11/58 (19.0%) cases of in‐utero demise and 9/58 (15.5%) terminations of pregnancy. No patient was liveborn after an unsuccessful procedure. Thirty‐eight (65.5%) infants were liveborn, at a median (range) gestational age of 38.1 (29.0–40.6) weeks, of whom 21 (55.3%) required prostaglandin treatment. Twenty‐eight of the 38 (73.7%) liveborn children (48.3% of the study population) entered the BVC pathway at birth. Among them, 20 (71.4%) required an aortic valvuloplasty procedure at birth (11 (55.0%) percutaneous balloon, nine (45.0%) surgical) and eight (28.6%) did not require any treatment at birth, but, of these, five (62.5%) underwent surgical valvuloplasty between day 26 and day 1200 of age. Eleven (39.3%) of the infants with BVC at birth required a second intervention and four (14.3%) of them required a third intervention. Two (7.1%) infants who entered the BVC pathway at birth underwent conversion to univentricular circulation (UVC). None of the surviving children with BVC developed pulmonary hypertension. The overall survival rate in those with BVC at birth was 22/28 (78.6%) at a median (range) follow‐up of 23.3 (2.0–112.6) months. Ten of the 58 (17.2%) patients had UVC at birth. Among these, six (60.0%) received compassionate care from birth and four (40.0%) underwent surgery. Three of the 10 patients who had UVC at birth were still alive at the latest follow‐up assessment, at a median (range) gestational age of 24.3 (8.3–48.7) months. Conclusions: FAV for critical AS led to increase of antegrade aortic flow in 86.2% of fetuses, with BVC being achieved in 48.3% (73.7% of the liveborn cases). Among patients with BVC at birth, the rate of reintervention was high, but 78.6% of these children were alive at the latest evaluation. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. © 2014 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The article presents the study on the presence of cerebral lesions of tuberous sclerosis complex (TSC) in cases of prenatal diagnosis of cardiac rhabdomyomas (CR). The study includes fifty-one fetuses diagnosed prenatally with CR wherein family history of TSC and parental examination such as skin and ophthalmological examination, cerebral magnetic resonance imaging (MRI) were recorded. It was found out that neurological complications occurred in most patients diagnosed with TSC at MRI.

Abstract 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. [ABSTRACT FROM AUTHOR]

An abstract of the research paper "Clinical course and outcome of antenatally detected atrioventricular block: experience of single tertiary centre and review of the literature," by M. Kuleva and colleagues is presented.

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym "PMD" (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre- and perinatal diagnoses of Matthew-Wood syndrome have been described to date. The cause is unknown, and the mode of transmission remains unclear. Most cases have been reported as isolated and sporadic, although recurrence among sibs has been observed once. Our two cases both occurred in consanguineous families, further supporting autosomal recessive transmission. In addition, in one family at least one of the elder sibs presented an evocatively similar phenotype. The spatiotemporal expression pattern of the FGF10 and FGFR2 genes in human embryos and the reported phenotypes of knockout mice for these genes spurred us to examine their coding sequences in our two cases of MWS. While in our patients, no causative sequence variations were identified in FGF10 or FGFR2, this cognate ligand-receptor pair and its downstream effectors remain functional candidates for MWS and similar associations of congenital ocular, diaphragmatic and pulmonary malformations., ((c) 2007 Wiley-Liss, Inc.)