In the Di Venere hospital, an entire floor has been completely renovated and equipped with modern technologies and latest generation ultrasound machines for the ultrasound diagnosis of fetal pathologies and for genetic screenings including SMA. Fetal surgery is scheduled, “an absolute novelty in Southern Italy”, underlines the ASL. Emiliano: “The Di Venere is a hospital that we are modernizing piece by piece and it is an excellence at a national level”.
12 DIC – Ultra-modern laboratories and state-of-the-art equipment in 1,300 square meters of welcoming and well-equipped spaces to guarantee an effective health response to the life that is born: from the embryo to the newborn, passing through the fetus. The new Centers for Medical Genetics and Fetal Medicine, regional centers of reference in the field of Reproductive Medicine and Genomics, were inaugurated this morning at the “DI Venere” hospital in Bari. The president of the Puglia Region took part in the ribbon cutting, Michele Emiliano; the general manager of ASL Bari, Antonio Sanguedolce; the medical director of ASL Bari Danny Sivo; the director of the UOC of Fetal Medicine and of the Department of Advanced Management of Reproductive Risk and Pregnancies at Risk, Paolo Volpe; the director of Medical Genetics, Matthias Gentile.
The overall intervention, financed with approximately 1.6 million euros of ERDF (and partly regional) funds and completed in nine months, saw the use of eco-sustainable cutting-edge technologies and materials in order to obtain a high level of environmental safety operations and diagnostic rooms and is the result of the renovation of the first floor of an existing building within the facility, intended to house the Medical Genetics and Fetal Medicine operating units.
In the new structure, in addition to the activities of prenatal counseling organized in collaboration by the two operating units, the first interventions of fetal surgery are also scheduled, “an absolute novelty in the regional field and in southern Italy”, underlines the Bari local health authority in the note the point on the project.
As far as the fetus is concerned, level II ultrasounds are performed for the diagnosis of fetal malformations with consequent “taking charge” of cases of congenital fetal anomalies that go as far as delivery. Various regional programs are already in place at Medical Genetics such as fetal DNA testing and SMA Neonatal Screening. After the recent go-ahead from the Constitutional Court, the new advanced genomic analysis service is already operational with sequencing of the individual coding region, the so-called Exoma, capable of diagnosing over 85% of rare and non-rare diseases on a genetic basis, all within a codified and completely free specialist path.
“Today we are inaugurating – were the words of the president Michele Emiliano, resumed in the note – the new department of Medical Genetics and Fetal Medicine which is a reference for the whole Puglia Region. The Ospedale Di Venere, from the point of view of the maternal and child pole, is a very advanced place. It’s a hospital that we’re modernizing piece by piece and it’s a national excellence. More than 2,000 women give birth every year in this garrison. I’m here to say thanks to the team of doctors and nurses of Fetal Medicine and Medical Genetics who always “fight” with great intensity”.
“Today is a presentation day – underlined the general manager Anthony Sanguedolce – of two centers that are already at the forefront, both for Medical Genetics and for Fetal Medicine. Now they have a much larger site, 1,300 m2 of space, new equipment and work together in one area. We recall that the Fetal Medicine operating unit, directed by Dr. Volpe, is already a reference center for Puglia and for all of Southern Italy as regards the diagnosis of congenital malformations. Doctors from many regions of Italy come to this center to gain experience, in particular as regards the study and diagnosis of cardiac malformations. And Fetal Medicine has also launched an activation process that will take place, in the coming weeks, for Major Surgery of the fetus and is the first center in Southern Italy to deal with it. So a big step forward towards the future”.
“As for Medical Genetics, directed by Dr. Gentile, who already deals, among other things, with newborn screening to identify Sma, for which 26,000 tests have been performed, therefore all newborns in Puglia have been examined in the last year , and three carriers of Sma were identified who were promptly subjected to gene therapy with excellent results.Moreover, Medical Genetics also deals with the Exoma project, wanted by the Puglia Region with regional law, which means being able to identify the large part of rare diseases with a single genetic test”, concluded Sanguedolce.
The renovation and redevelopment project
Surface area more than doubled, going from 550 square meters of the previous structure to 1,310 of the new one, interdependent but clearly separated areas and enhanced functions thanks to the allocation of new equipment and the new “missions” at regional level. The new profile of the structure, moreover, has been designed around the needs and expectations of the patients, ensuring that prenatal counseling is managed in a modern, safe and welcoming environment, to reduce the stress and discomfort of the patients, in order to help the individual, the couple and the family to understand and adapt to the medical, psychological and reproductive implications of particular clinical conditions.
The new structure includes: an area with the various genetics laboratories (cytogenetics and microscopy, cell cultures, NGS sequencing and CGH arrays, molecular screening), five fetal ultrasound rooms equipped with the latest generation ultrasound, a Fetal Surgery room, two waiting rooms with dedicated paths, near the two entrances to the public, with areas for quick check-in, dedicated archives, including a mechanized archive (first in Europe) for samples of Dried Blood Spots (DBS, samples of dried blood placed on cardboard) . The new configuration has maintained two separate paths for patients, always in close proximity, so as to allow for mixed consultations and transfer of patients, where necessary, depending on the clinical risk. Likewise, the sampling room is adjacent to the counseling room, to allow for emergency sampling without stressing the patients.
The activities and perspectives of Fetal Medicine
Fetal Medicine, with a staff of 8 doctors in addition to the director Paolo Volpe, is strongly committed on various fronts and, in the last two years alone, has taken charge of around 20,000 fetuses at risk of congenital pathology or for the screening of chromosomal anomalies . In fact, the main activities concern first trimester screening for chromosomal abnormalities and pre-eclampsia (about 4,000 free tests carried out annually), a serious maternal pathology linked to pregnancy which affects 3-5% of pregnant women; the diagnosis and management of fetuses affected by congenital anomalies (including congenital heart disease) and other congenital pathologies; in addition, the multidisciplinary counseling courses which will resume this year and which will also include the role of the psychologist.
In addition to invasive prenatal diagnosis, amniocentesis and villocentesis, the new structure will also allow for fetal surgery capable of intervening on certain malformations of the fetus, starting with certain pathologies concerning monochorionic twin pregnancies. The UOC of Fetal Medicine also has a training function in the field, being attended by postgraduates from universities throughout Italy, with a sharp increase in demand in recent years.
The role of medical genetics
Medical Genetics, launched in the ASL Bari in 2004, currently has a total workforce of 15 different professional figures directed by Dr. Matthias Gentile. Starting with the traditional prenatal genetic diagnosis, it has broadened its horizons with post-natal genetic diagnosis particularly active on infertility (over 500 infertile couples perform genetic tests every year) and neurodevelopment disorders (about 400 children visited and analyzed annually). Since 2017, the only reality in Italy, has been providing the Fetal DNA Test (NIPT) with the Regional Project for all pregnant women with an intermediate risk of diseases due to chromosome abnormalities. Identified by regional law as a Center for the Molecular Screening of SMA (Spinal Muscular Atrophy), Medical Genetics to date has examined over 26,000 newborns from the 25 birthplaces of Puglia, identifying 3 affected newborns who were started on gene therapy in a very short time, by virtue of a Protocol in collaboration with the Children’s Hospital of Bari, preventing an irreversible neurodegeneration with an unfortunate outcome.
The “Di Venere” Genomics Laboratory has also been identified by regional law as the exclusive site for the investigation of exomic sequencing. A breakthrough in genetic diagnostics that will make it possible to diagnose at least 2,000 patients/year suspected of having a rare genetic disease, mainly in the 0-14 age group but also in adulthood (for pathologies with late onset such as cardiomyopathies or neurodegenerative).
Finally, Medical Genetics has two figures with university teaching, it is an active seat for the Specialization in Medical Genetics and for the University Master’s Degree in Cytogenomics.
December 12, 2022
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