The role of genetic techniques in prenatal diagnostics

Prenatal genetic diagnosis includes screening tests (to assess the risk of chromosomal aberrations) and diagnostic tests (to identify changes in DNA). The dynamic development of molecular methods in prenatal diagnosis has significantly expanded diagnostic possibilities, and techniques based on next-generation sequencing (NGS) are playing an increasingly important role. The wider availability and scope of prenatal tests contributes to early and more precise diagnosis and helps to improve a perinatal care and clinical management after birth. This article presents genetic techniques currently used in Poland in prenatal diagnosis and related current clinical guidelines.