Recent advances in prenatal genetic screening and testing.

摘要: The introduction of new technologies has dramatically changed the current practice prenatal screening and testing for genetic abnormalities in fetus. Expanded carrier panels non-invasive cell-free fetal DNA-based aneuploidy single-gene disorders, more recently subchromosomal abnormalities, have been introduced into care. More such as chromosomal microarray analysis whole-exome sequencing can diagnose conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened non-invasively. All these options benefits limitations, counseling become increasingly complex providers who are responsible guiding patients their decisions about before during pregnancy.