title: Recent advances of genomic testing in perinatal medicine.
abstract: Rapid progress in genomic medicine in recent years has made it possible to diagnose subtle genetic abnormalities in a clinical setting on routine basis. This has allowed for detailed genotype-phenotype correlations and the identification of the genetic basis of many congenital anomalies. In addition to the availability of chromosomal microarray analysis, exome and whole-genome sequencing on pre- and postnatal samples of cell-free DNA has revolutionized the field of prenatal diagnosis. Incorporation of these technologies in perinatal pathology is bound to play a major role in coming years. In this communication, we briefly present the current experience with use of classical chromosome analysis, fluorescence in situ hybridization, and microarray testing, development of whole-genome analysis by next-generation sequencing technology, offer a detailed review of the history and current status of non-invasive prenatal testing using cell-free DNA, and discuss the advents of these new genomic technologies in perinatal medicine.
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA; Magee-Womens Research Institute, University of Pittsburgh, 204 Craft Ave, Pittsburgh, PA 15213. Electronic address: david.peters@mail.hgen.pitt.edu.
authors.forename: David G
authors.initials: DG
authors.lastname: Peters
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA; Department of Pathology, University of Pittsburgh, Pittsburgh, PA.
authors.forename: Svetlana A
authors.initials: SA
authors.lastname: Yatsenko
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA; Magee-Womens Research Institute, University of Pittsburgh, 204 Craft Ave, Pittsburgh, PA 15213; Department of Pathology, University of Pittsburgh, Pittsburgh, PA; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA.
authors.forename: Urvashi
authors.initials: U
authors.lastname: Surti
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA; Magee-Womens Research Institute, University of Pittsburgh, 204 Craft Ave, Pittsburgh, PA 15213; Department of Pathology, University of Pittsburgh, Pittsburgh, PA; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA.
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Rajkovic
mesh_terms: D000782:Aneuploidy; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods / Q000639:trends*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods / Q000639:trends*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods / Q000639:trends*; D018456:Reproductive Medicine / Q000639:trends*