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Genetic diagnosis

The American College of Obstetricians and Gynecologists recommends that all women be offered prenatal assessment for aneuploidy by either genetic screening or diagnostic testing independent of maternal age or risk factors. Prenatal genetic screening is intended to identify patients who are at increased risk of having a fetus with a genetic condition while prenatal genetic diagnostic testing detects whether a specific genetic condition is present in the fetus with high accuracy. Amniocentesis, along with chorionic villus sampling, are examples of prenatal diagnostic tests. Amniocentesis or chorionic villus sampling is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation. Transabdominal chorionic villus sampling is an alternative to amniocentesis if genetic diagnostic testing is to be performed in the first trimester between ten and 15 weeks' gestation. It is important to note that prenatal genetic testing cannot identify all possible fetal genetic abnormalities or their outcomes. When deciding on whether to perform invasive genetic diagnostic testing such as amniocentesis, patients and their physicians should participate in a shared-decision-making process that takes into account a patient's individual risk profile and preferences.