Prof. Dr. Ioannis Kyvernitakis
World Birth Defects Day-March 3rd
Report by Prof. Dr. Ioannis Kyvernitakis on World Birth Defects Day – March 3rd.
Congenital malformations are a leading cause of perinatal morbidity and mortality worldwide. Their development is often multifactorial and includes genetic, epigenetic, and environmental influences.
Prenatal diagnostics form a central pillar of structured care. Guideline-based concepts emphasize the importance of standardized sonographic anomaly screening, supplemented by indication-based genetic testing. In particular, the integration of modern molecular genetic methods has significantly enhanced diagnostic precision and differentiated risk stratification.
Quality-assured care requires:
• clearly defined care structures
• interdisciplinary collaboration between prenatal medicine, human genetics, neonatology, and other medical specialties
• and evidence-based, non-directive genetic counseling.
The aim is to enable individual pregnancy and birth planning based on valid prenatal findings and to ensure access to specialized perinatal centers.
An empathetic, patient-centered approach is essential, combining medical expertise with understandable communication, time for individual questions and psychosocial support.
World Birth Defects Day underlines the importance of guideline-oriented prenatal diagnostics, structured care models and continuous development of genetic diagnostics to sustainably improve the care of mother and child.
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