A5062259808- Prenatal Screening and Diagnostics
- Hemoglobinopathies and Related Disorders
- Parvovirus B19 Infection Studies
- Genetic Syndromes and Imprinting
- Fetal and Pediatric Neurological Disorders
- Renal and Vascular Pathologies
- Genomic variations and chromosomal abnormalities
- Heparin-Induced Thrombocytopenia and Thrombosis
- Cerebral Venous Sinus Thrombosis
- Dermatological and COVID-19 studies
- Platelet Disorders and Treatments
- Pregnancy and preeclampsia studies
- Oral and gingival health research
- Otitis Media and Relapsing Polychondritis
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Congenital Anomalies and Fetal Surgery
- Vascular anomalies and interventions
- Iron Metabolism and Disorders
- Central Venous Catheters and Hemodialysis
- BRCA gene mutations in cancer
- Venous Thromboembolism Diagnosis and Management
- Cardiovascular and Diving-Related Complications
- Genetic and Kidney Cyst Diseases
- Antiplatelet Therapy and Cardiovascular Diseases
Ospedale Vincenzo Cervello
2014-2024
University of Palermo
2021-2022
Azienda di Rilievo Nazionale ed Alta Specializzazione
2021
Ospedale G.F. Ingrassia
2021
Thrombosis Research Institute
2007
Haemoglobinopathies are a major public health problem in Sicily: it was estimated frequency of 1/245 couples at risk haemoglobinopathies. This paper reviews legislative actions, prevention activities, carrier screening, genetic counselling, foetal sampling and laboratory methodology analysis evolution reporting the results 30 years actions to assess efficiency our preventative programme control haemoglobinopathies Sicily.This consisted principally five phases: awareness campaign, counselling...
Celocentesis, which involves aspiration of celomic fluid at 7-9 weeks' gestation, can potentially provide early prenatal diagnosis single-gene disorders. The main barrier to wide acceptability this technique is contamination the sample by maternal cells. This problem be overcome through selection embryo-fetal erythroid precursors, are found in celomatic fluid.Embryo-fetal precursors were selected an anti-CD71 MicroBeads method or direct micromanipulator pickup cells on basis their...
The main problem to wide acceptability of celocentesis as earlier prenatal diagnosis is contamination the sample by maternal cells. objective this study was investigate cellular composition celomic fluid for morphological discrimination between and embryo-fetal cells.Celomic fluids were aspired ultrasound-guided transcervical at 7-9 weeks' gestation from singleton pregnancies before surgical termination psychological reasons. DNA extracted cells showed same morphology, quantitative...
Celocentesis is an invasive technique that can provide prenatal diagnosis of single-gene disorders, from as early 7 weeks' gestation. The objective this study was to examine the safety celocentesis.In prospective study, celocentesis performed for hemoglobinopathy in 402 singleton pregnancies which both parents were carriers β-thalassemia or sickle cell disease trait. We assessed procedure-related maternal discomfort pain, success sampling and obtaining results, pregnancy outcome postnatal...
Currently, prenatal diagnosis of genetic disorders requires chorionic villus sampling or amniocentesis carried out after 11 and 16 weeks gestation, respectively. Celocentesis is a procedure for that could be used from as early 7 weeks. The present investigation evaluated the feasibility performing monogenic diseases using celomic fluid containing cells fetal origin.Analysis consisted 489 singleton pregnancies undergoing celocentesis hemoglobinopathies (n = 367) before surgical termination...
Cockayne's syndrome (CS) is a rare autosomal recessive multisystem disease characterised by early severe progression of symptoms. This study reports the feasibility earlier prenatal diagnosis CS coelocentesis at 8 weeks gestation respect to amniocentesis or villocentesis. Three couples risk for asked perform coelocentesis. Coelomic fluid was aspired from coelomic cavity in four singleton pregnancy and 40 foetal cells were recovered micromanipulator. Maternal DNA contamination evaluated...
BACKGROUNDFetal hydrops is a serious condition difficult to manage, often with poor prognosis, and it characterized by the collection of fluid in extravascular compartments.Before 1968, most frequent cause was maternal-fetal Rh incompatibility.Today, 90% cases are non-immune fetalis.Multiple fetal anatomic functional disorders can fetalis pathogenesis incompletely understood.Etiology varies from viral infections heart disease, chromosomal abnormalities, hematological autoimmune causes. CASE...
Abstract Introduction Analysis of fetal DNA in at risk couples for thalassemia is performed from trophoblast or amniotic fluid cells. Although these procedures are common use, the main limitation essentially due to late gestation week which diagnosis performed. The celomic cavity develops around 4 weeks pregnancy within extraembryonic mesoderm and contains embryonic erythroid precursor cells as a source that can be used perform invasive prenatal diagnosis. Methods Celomatic fluids were...
Celocentesis is a new sampling tool for prenatal diagnosis available from 7 weeks in case of couples at risk genetic diseases. In this study, we reported the feasibility earlier by celocentesis four cases cystic fibrosis and one β-thalassemia co-inherited same fetus. Celomic fluids were aspired celomic cavity between 8+2 9+3 gestation fetal cells picked up micromanipulator. Maternal DNA contamination was tested target regions containing parental pathogenetic variants CFTR HBB genes amplified...
Background: Turner syndrome is a rare genetic condition in which female partly or completely missing an X chromosome. Signs and symptoms vary among those affected. In fetuses that survive at birth without congenital malformations, the prognosis usually positive, but it has high lethality utero, especially first trimester of pregnancy. Methods: We report case monosomy detected during prenatal diagnosis for beta thalassemia on coelomic fluid (CF) VIII week gestation. Beta globin gene analysis,...
The procedures commonly used for prenatal diagnosis (PND) of thalassemia are villocentesis or amniocentesis, respectively, at the 11th and 16th weeks gestation. Their main limitation is essentially due to late gestation week in which performed. celomic cavity accessible between 7th 9th it has been demonstrated that contains embryonic erythroid precursor cells as a source fetal DNA earlier invasive PND other monogenic diseases. In this study, we report use celomatic fluids obtained from nine...
The azygos venous system consists of the vein on right side and hemiazygos accessory left side. runs through abdominal cavity along vertebral bodies, in a cranial direction, passes diaphragm reaches mediastinum, where it forms arch which flows into superior vena cava. Along its course, communicates with intercostal veins right, that collects blood from lower veins, drains upper veins. last two, at level seventh thoracic vertebra, unite end vein. is normally included length between T4 T8....
Prenatal diagnosis of hemoglobinopathies involves the study fetal material from blood, amniocytes, trophoblast coelomatic cells and DNA in maternal circulation. Its first application dates back to 70s it globin chain synthesis analysis on blood. In 1980s molecular was introduced as well amniocentesis chorionic villi sampling under high-resolution ultrasound imaging. The direct sequencing polymerase reactionbased methodologies improved procedures reduced age for invasive prenatal 18 16–11...