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Clinical Utility of Non-Invasive Prenatal Screening from Maternal Blood
Fetal chromosomal abnormalities, especially trisomy 21 (Down syndrome) are frequent so that their prenatal detection represents one of the main goals of maternal-fetal medicine.
Abnormalities of the number and structure of chromosomes frequently appear in humans, appearing for: about 10% of gametes, for normal and fertile persons, 3% of 10 week fetuses and 2% of those of 15-16 weeks of gestation, 50-60% of early miscarriages (15-25% of all pregnancies), 10% of all stillborns (1% of all pregnancies), 0,7-1% of all live-borns (>1:120), 2% of all pregnancies for women over 35 in the moment of the conception (1).