Principles and Applications of Amniocentesis and Chorionic Villus Sampling (CVS) for Prenatal Diagnosis of Genetic Disorders

Abstract

The principles and implementation of amniocentesis and chorionic villus sampling (CVS) in the prenatal identification of genetic diseases play a crucial role in the healthcare of both the mother and the fetus. Both of these techniques share fundamental concepts, including the collection of the fetus's genetic material for genetic analysis. This process enables the identification of chromosomal anomalies such as trisomy and monosomy, as well as specific genetic illnesses caused by mutations in particular genes. Chromosome problems, such as Down syndrome and genetic diseases, such as cystic fibrosis, thalassemia, and muscular dystrophy, can be found with amniocentesis and CVS. The data derived from the outcomes of this genetic study is of immense value in aiding patients and physicians in making determinations regarding the continuation of the pregnancy, readiness for therapy, and subsequent postnatal care that may be necessary.