Friuli Venezia Giulia Expands Neonatal and Prenatal Screening
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The Friuli Venezia Giulia Region in Italy is making significant strides in maternal and child healthcare. A recent resolution by the Regional Council introduces several new prenatal and neonatal screening programs, dramatically improving the region’s healthcare offerings and ensuring earlier interventions for better pregnancy outcomes and healthier newborns.
“With this new initiative focusing on neonatal and prenatal screenings beyond the standard Lea program, we’re introducing several new tests,” explained Regional Health Councilor Riccardo Riccardi. “These crucial tools will safeguard the health and well-being of both mother and child,allowing for prompt interventions.”
The expanded neonatal screenings for all newborns in friuli Venezia Giulia now include tests for spinal muscular atrophy, congenital immunodeficiencies, sickle cell anemia, and other major hemoglobinopathies. Four new prenatal screenings are also available for expectant mothers: Non-invasive prenatal testing (NIPT), cytomegalovirus screening, Chagas disease screening (for at-risk women), and tuberculosis infection screening (for at-risk women).
Councilor Riccardi emphasized the importance of these advancements: “The introduction of these new neonatal screenings is driven by technical and scientific progress, enabling timely diagnoses of certain congenital diseases. Early intervention, before symptoms appear, can dramatically alter the disease’s course, substantially improving the quality of life for affected newborns and preventing serious disabilities or even death.Some regional health authorities have already begun pilot programs for some of these screenings.”
Existing newborn screenings in the region already include expanded metabolic and lysosomal disease screening (conducted in a veneto Region laboratory) and cystic fibrosis screening (at the Irccs Burlo Garofolo). Riccardi noted, “The list of newborn screenings might potentially be updated in the future based on periodic reviews by the ministry of Health’s working group.”
Regarding prenatal screenings, Riccardi explained the addition of the NIPT test: “The NIPT is introduced as a level II screening, following a high-intermediate risk outcome from the level I test. The level I test is already recommended by the italian goverment for all pregnant women and was introduced in Friuli Venezia Giulia in 2018.Our decision too include NIPT aligns with the recommendations of the Superior Health Council.”
“Cytomegalovirus screening for all pregnant women,” Riccardi added, “has become paramount due to the availability of effective antiviral treatments during pregnancy. These treatments help prevent significant neurological consequences in newborns.”
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Friuli Venezia Giulia Leads the Way with Expanded Newborn and Prenatal Screenings
Friuli Venezia Giulia, a region in northeastern Italy, is making strides in maternal and child healthcare with the implementation of several new neonatal and prenatal screening programs. These advancements aim to ensure earlier diagnoses of congenital diseases and improve pregnancy outcomes for mothers and babies.
A Focus on Proactive Healthcare
Dr. Sofia Bianchi, Head of the Prenatal diagnosis Unit at the Ospedale di Cattinara, discusses the rationale behind these vital screenings:
“Friuli Venezia Giulia has always been committed to providing cutting-edge healthcare. These new screenings represent a significant step forward in our commitment to proactive care. Early detection is key to improving outcomes for infants born with certain conditions. Many of these diseases can be effectively managed with early interventions, preventing serious complications and improving the quality of life for affected children.”
Expanding Screening for Newborns
The expanded neonatal screenings include tests for a wider range of conditions, considerably enhancing the region’s ability to identify newborns who might require specialized care. Dr. bianchi explains:
“We’re now screening for conditions like spinal muscular atrophy, congenital immunodeficiencies, sickle cell anemia, and other major hemoglobinopathies, in addition to the existing screenings. These additions will undoubtedly save lives and improve the well-being of many newborns in Friuli Venezia Giulia.”
Improved Prenatal care
Friuli Venezia Giulia’s commitment to prenatal care is evident in the implementation of four new prenatal screening tests:
Non-invasive prenatal testing (NIPT):
“NIPT is a groundbreaking screening test that analyzes fetal DNA in the mother’s blood to detect chromosomal abnormalities,” explains Dr. Bianchi. “Its a highly accurate and safe screening tool that offers expectant parents valuable details.”
cytomegalovirus screening:
“CMV infection during pregnancy can have serious consequences for the developing fetus. By screening all pregnant women, we can identify those who need timely treatment to prevent complications,” emphasizes Dr. bianchi.
* chagas disease and tuberculosis infection screening for at-risk women:
Dr. Bianchi highlights the importance of these targeted screenings: “These screenings are essential for protecting vulnerable populations. Early detection and treatment are crucial for preventing the transmission of these infections from mother to child.”
Ongoing Commitment to Innovation
Dr. bianchi concludes by emphasizing the region’s dedication to continuous improvement in healthcare:
“The introduction of these new screenings is part of our ongoing commitment to providing the best possible care for mothers and children. We will continue to review the latest scientific advancements and explore new technologies to ensure that Friuli Venezia Giulia remains a leader in maternal and child health.”