Amniotic Fluid Cells Biobank for Research on Fetal Mesenchymal Stem Cells

The research biobank “Anna Maria Ferraro Cutino” AOR-villa Sofia-Cervello, started in 2010 by a grant of the Sicilian Department of Health. Within the biobank are collected, characterized, stored and distributed amniotic fluids (AF) from amniocentesis performed for maternal age. Patients choose to donate to the biobank the first 3 ml of AF that cannot be used for prenatal diagnosis. AF and donor data are anonymously archived in a database, according to the standard ethical principles. Collateral biobanks are present to collect, storage and manage donor sera and DNA samples, to perform microbiological and genetic tests necessary for the unit release. Funding Statement: From 2009 to date this work is supported by: 1. “Franco e Piera Cutino” onlus Foundation, Palermo (Italy); 2. Health Department Sicilian Region; 3. Productive Activities Department Sicilian Region; 4. AOR “Villa Sofia –Cervello” (Palermo).</p

In utero stem cells transplantation after a mild immunosuppression: evidence of paternal ABO cDNA in β β β β β-thalassaemia affected fetus

Background. In utero haematopoietic stem cell transplantation (IUHSCT) could represent an alternative option to therapeutic abortion after prenatal diagnosis of thalassaemia. However, although in immunodeficiency syndromes chimerism has been described, in thalassaemia poor clinical success has been reported. One of the reasons is probably the graft failure due to an immune response of the fetuses. Materials and methods. Therefore, we set up a clinical protocol by which two female fetuses affected by ß-thalassaemia at 20 and 21 weeks of gestation were prenatally treated with low-dose dexamethasone and then transplanted with paternal circulating haematopoietic progenitor cells. Results. Chimerism analysis performed after birth showed the presence, in both newborns, of Y cells in peripheral blood. Moreover, in one case an erythroid microchimerism was shown by the presence of paternal ABO allele A cDNA obtained from mononuclear peripheral blood cells at 2 months of age and by an unusual HbA value of 14.4%, thus indicating a slight transitory engraftment of infused paternal stem cells. However, because of both babies required transfusions before 12 months, these data confirm the difficulty for long-term successful with IUHSCT. Conclusions. To obtain safe and successful results for fetuses with β β β β β-thalassaemia will remain a challenge of the next years. Introduzione I rapidi progressi conseguiti nelle indagini genetiche e molecolari hanno consentito di individuare numerose malattie genetiche ereditarie in periodi precoci di gestazione, mediante il campionamento dei villi coriali (CVC) e l&apos;analisi del DNA. Il trapianto in utero di cellule staminali ematopoietiche (In utero Haematopoietic Stem Cell Transplantation, IUHSCT) potrebbe rappresentare una opzione alternativa all&apos;aborto terapeutico in alcune emopatie genetiche ereditarie, quali le emoglobinopatie, in quanto, potenzialmente, potrebbe consentire la nascita di un neonato sano. Tuttavia, attualmente, l&apos;attecchimento dopo IUHSCT si è ottenuto soltanto in caso di feti affetti da disordini immunologici, quali la sindrome di Bare (sindrome dei linfociti &quot;nudi&quot;) o l&apos;immunodeficienza combinata grave (Severe Combined ImmunoDeficiency, SCID

Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop