PRENATAL 9 • Detects fetal trisomies of chromosomes 21, 13 and 18 • Detects microdeletion syndromes • Identifies fetal sex and reports the most common aneuploidies of sex chromosomes • Test entirely carried out in Spain • Results in 7 working days *See Informed Consent for exceptions Non-invasive prenatal screening from maternal blood What are the requirements to carry out the test TrisoNIM®Advance? A reliable and efficient method for those mothers wishing to know if their fetus is likely to suffer from a frequent syndrome without risking their pregnancy. (*) Calculations based on a population study of over 211,000 samples of pregnant women. Security parameters of the analysis Chromosome T21 (Down’s Syndrome) 99,65% <0,01% T18 (Edwards’ Syndrome) 99,66% <0,02% T13 (Patau’s Syndrome) 100% <0,02% X0 (Turner Syndrome) >95% – Chromosome Y detection >98% – Detecting capacity (*) False positive predictive values (*) Down´s syndrome is a congenital abnormality caused by trisomy (three copies instead of two) of chromosome 21.Those affected by this syndrome can suffer from mental delay and other complications. There are also other trisomies causing significant complications in affected individuals, i.e. Edwards´ syndrome (trisomy of chromosome 18) and Patau´s syndrome (trisomy of chromosome 13). Alterations can occur in the number of sex chromosomes, known as sex aneuploidies. Turner (X0) and Klinefelter (XXY) syndromes are among the most common. Individuals affected by these have fertility problems and alterations in the development of the sexual organs, among other complications. In some cases, they also suffer from mental delay. Down´s syndrome appears in approximately one per 700 births. Edwards´ and Patau´s syndromes occur in about one per 5,000 and 16,000 births, respectively. Sex aneuploidies appear in one per 500 male and in one per 850 female births. There are also genetic syndromes caused by a loss of small portions of the genome (called microdeletions). The most frequent being the syndrome of micro-deletion 1p36 and 2q33.1 or the Cri-du-Chat syndrome. Individuals affected by these syndromes present health problems at their birth, such as malformations in several organs and mental delay. Unlike the trisomies, there is no proven link between these syndromes and advanced maternal age. The test TrisoNIM®Advance can also exclude the presence of these three syndromes in maternal blood. Why is it important to carry out non-invasive prenatal screening? The incidence of these alterations increases exponentially with the mother´s pregnancy age, from the age of 35. This risk is determined in the first trimester of pregnancy, on the basis of three factors: age of the pregnant woman, biochemical markers in maternal blood and anomalies in the fetus observed during an ultrasound scan. It is important to remember that a high risk result with TrisoNIM®Advance has to be confirmed by an amniocentesis, an invasive technique, involving the extraction of amniotic fluid. NIMGenetics offers this validation free of charge with KaryoNIM®Prenatal, a test capable of excluding, fast and efficiently, up to 124 syndromes. To be pregnant from week 10 onwards, as confirmed by ultrasound scan. To be in compliance with your doctor and to sign an informed consent. To allow the collection of 10 ml of blood. 1. 2. 3.