Prenatal and Preconception Genetic Testing
Italy has a well-established culture of prenatal care that increasingly incorporates genetic screening and diagnostics
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Non-Invasive Prenatal Testing (NIPT): This technology analyzes fetal DNA from a maternal blood sample to screen for chromosomal anomalies. While currently more common in the private sector, several Italian regions have begun incorporating NIPT into their public healthcare offerings for high-risk pregnancies.
Carrier Screening: Preconception tests are available to determine if individuals or couples carry genetic variants for recessive conditions, such as Thalassemia or Cystic Fibrosis, which are more prevalent in Mediterranean populations.
Traditional Diagnostics: Procedures like amniocentesis and chorionic villus sampling (CVS) remain the gold standard for definitive diagnosis when risks are identified during screening.