Laboratory methods for prenatal diagnosis

Abstract

This article is aimed at discussing prenatal diagnosis of fetal genetic abnormalities as an important step in the detection and prevention of birth defects and genetic syndromes. The authors show the multi-vector nature of this problem, which requires an integrated approach and the participation of a multidisciplinary team of specialists, such as gynecologists, radiologists, neonatologists, clinical geneticists, and pediatricians. Among the many methods that allow diagnosing congenital genetic pathology, this publication highlights fluorescent hybridization in situ. In comparison with other immunogenetic methods, this technique allows assessing the genetic status of an individual cell and detecting several etiopathogenetically significant abnormal cells among thousands of others with a normal genotype. This is its advantage over PCR, in which the DNA of all cells is mixed and the result is averaged. The article provides indicators for the selection of patients for screening for fetal pathology. Prenatal screening pathways, as nowadays in most countries consist of similar tests. This article is meant to be an introduction into more detailed ethical discussions about prenatal screening. A new approach of prenatal testing (PNT) will be useful given the currently available diagnostic tests. Genetic tests and general trend of individualization in healthcare policies are directions for establishing prenatal diagnosis with consideration of ethical policies.