View clinical trials related to Congenital Abnormalities.
Filter by:An anomalous coronary artery from the opposite sinus of Valsalva (ACAOS) represents a congenital disorder with an anomalous location and/or course of the coronary vessel. The prevalence of ACAOS in the general population is around 1 % and they are mostly clinically insignificant and remain often undetected. However, some variants of ACAOS are associated with adverse cardiac events. The possible presence of an interarterial/intramural course is the primary cause for an oval proximal vessel shape and/or proximal vessel narrowing, which may lead under stress conditions to a "dynamic compression" of the vessel (compared to "fixed" stenosis in coronary artery disease). To mimic these conditions, dobutamine and volume challenge is used to invasively measure fractional flow reserve (FFR) during coronary angiography and is seen as the gold standard in assessing the hemodynamic relevance of ACAOS. We established a specialized interdisciplinary clinic for coronary artery anomalies including imaging specialists, invasive cardiologists and congenital heart disease surgeons as correct downstream testing and treatment decision is highly challenging in these patients. Thus, systematic collecting of all available diagnostic methods (invasive and non-invasive) is required to assess the optimal diagnostic procedure and treatment for these patients. Coronary computed tomography angiography (CCTA) is the method of choice to characterize the exact anatomy of ACAOS. However, how functional invasive FFR is associated with anatomical CCTA findings is unknown. Further, diagnostic accuracy of a novel independent research algorithm with computational fluid dynamics (ctFFR) as well as functional imaging (i.e. stress single photon emission computed tomography) in this specific setting is unknown. The presented project will help to understand the pathophysiology of CAAs with particular focus on ACAOS-IC and improve risk stratification based on non-invasive imaging.
A single arm clinical trial evaluating the safety and efficacy of the second generation TEVG as vascular conduits for extracardiac total cavopulmonary connection.
This is a prospective, single-arm non-randomized interventional study of fetuses to assess the safety and efficacy of fetal embolization of Vein of Galen Malformation (VOGM). Subjects will receive a one-time study intervention of fetal embolization. Follow-up assessments will be collected every 4 weeks until delivery, as per standard of care. After delivery, neurological assessments will be performed every 6 months for 2 years (adjusted for gestational age). Data will be compared to historical cohorts.
Congenital malformations concern 3% of pregnancies; most of them can be seen during pregnancy. For some malformations, an invasive sample (trophoblast biopsy or amniocentesis) is proposed to search a chromosomal abnormality by the technique of DNA chip. However, some strongly suggestive signs of a genetic (and not chromosomal) pathology have a very low diagnostic rate with this technique. In the absence of an etiological diagnosis, the prognosis for the unborn child is very difficult to assess, as we can't know if the fetal malformation is really isolated or associted to other unseen features as part of a syndromic condition. For some malformations strongly suggestive of a genetic condition, we propose to realize an exome (i.e. all coding parts of the genome) sequencing of the trio (child and the 2 parents) with a delivery time compatible with the emergency situation of a pregnancy (6 weeks maximum). We will apply bioinformatics filters to analyse only genes known to be involved in the malformation present in the unborn child and thus avoid the identification of variants in unrelated genes. These lists of genes have been previously validated by the Rare Disease Health Sectors and the affiliated diagnostic laboratories. The selected malformations are: 1) anomalies of the central nervous system (microcephaly (<- 2DS) with anomalies of gyration, anomalies of the posterior fossa, anomalies of the midline except agenesis of the corpus callosum), 2) ophthalmological anomalies (microphthalmia, hyperplasia vitreous) and 3) renal abnormalities (large hyperechoic kidneys).
Pulmonary hypertension is a major determinant of postnatal survival in infants with a congenital diaphragmatic hernia (CDH). The current care during the perinatal stabilisation period in infants born with this rare birth defect might contribute to the development of pulmonary hypertension after birth - in particular umbilical cord clamping before lung aeration. An ovine model of diaphragmatic hernia demonstrated that cord clamping after lung aeration, called physiological-based cord clamping (PBCC), avoided the initial high pressures in the lung vasculature while maintaining adequate blood flow, thereby avoiding vascular remodelling and aggravation of pulmonary hypertension. The investigators aim to investigate if the implementation of PBCC in the perinatal stabilisation period of infants born with a CDH could reduce the incidence of pulmonary hypertension in the first 24 hours after birth. The investigators will perform a multicentre, randomised controlled trial in infants with an isolated CDH. Before birth, infants will be randomised to either PBCC or immediate cord clamping, stratified by treatment centre and severity of pulmonary hypoplasia on antenatal ultrasound. For performing PBCC a purpose-designed resuscitation module (the Concord Birth Trolley) will be used.
Placenta Adhesion Abnormalities (PAA) are the consequence of an excessive invasion of the placenta within the myometrium. PAA are related to severe maternal pregnancy outcomes, especially in case of incidental discovery during delivery that increase the risk of intraoperative massive bleeding, hysterectomy and even maternal death. Ultrasound is the standard modality for diagnosing PAA, but Magnetic Resonance Imaging (MRI) has been increasingly performed in the case of inconclusive sonographic findings. However, standard morphological MRI sequences appear as insufficient to improve the sensitivity and specificity values for detecting PAA, while quantitative MRI may be more efficient. The main objective of this study is to characterize the diagnostic performance of quantitative MRI parameters (mainly Apparent Diffusion Coefficient, T2 and T2*) reflecting placental perfusion and/or oxygenation at high field, without injection of gadolinium-based agent, for the detection of PAA in women with ongoing pregnancy between 30 and 38 weeks of gestation with risk factors for PPA.
During childhood, patients with RASopathies (Noonan syndrome and related diseases) can harbor various hematological anomalies ranging from isolated monocytosis, myelemia, thrombocytopenia or splenomegaly to myeloproliferative disorders. These anomalies may spontaneously disappear or persist, sometimes leading to juvenile myelomonocytic leukemia. Guidelines for initial screening and subsequent hematological follow-up have recently been published in France: peripheral blood analysis should be performed in all newly diagnosed patients and followed by biannual peripheral blood analysis in infants until the age of 2 years. In order to describe the characteristics of these abnormalities in terms of their incidence, age of occurrence, evolution and relation to genotype, we are conducting a longitudinal prospective study whose aim is to analyze peripheral blood cell counts and smears at diagnosis and one year later. In patients <3 years of age recruited at certain centers, biobanking of mononuclear cells will be performed. These data could yield a new insight into hematological anomalies in patients with RASopathies and thereby help physicians to determine the appropriate rhythm for hematological follow-up according to genotype.
Correlation Between Driver Gene Abnormalities and Clinicopathological Characteristics and Disease Prognosis in Lymphoma
Arteriovenous malformation (AVM) is a congenital vascular anomaly that progresses throughout life and causes complications including tissue destruction due to rapid overgrowth, bleeding, functional deficits, severe deformity and cardiac failure. Unfortunately, traditional managements have transient benefits with more than 90 recurrence rate within a year. Therefore, there is a significant unmet medical need. The purpose of this study is to assess the safety and efficacy of Trametinib in children and adults with Extracranial Arteriovenous Malformation (AVM).
Currently, there is no standard and indicated standard access route for uterine removal in the uterine transplant donor patient. The aim of the study is to show the feasibility of performing this procedure by replicating in our center the results found in other recent studies and to try to reduce the surgery time for both the donor and recipient patients.