ABSTRACT
Invasive prenatal diagnosis methods have gradually seen their importance grow to advances in embryo–fetal medicine, ultrasound imaging, cytogenetic analysis, and molecular biology. Such progress has deeply impacted reproduction behavior for couples at high risk for genetic pathologies. The most widespread invasive techniques employed in prenatal diagnosis centers are chorionic villus sampling (CVS), amniocentesis, and cordocentesis. Chorionic villi were obtained by aspiration or through biopsy from the chorion frondosum, at the edge of the placental disk. In 1984, transabdominal fine-needle villus aspiration under ultrasound guidance was introduced by Smidt-Jensen and Hahnemann in Copenhagen. The transabdominal approach instantly proved easy to learn and relatively safe. Ultrasound screening of Down syndrome in the first trimester of gestation may sometimes reveal several fetal abnormalities. The inborn errors of metabolism form a vast group of disorders that are individually rare, yet all together embody a major source of human disease and suffering.
