title: Genetics: update on prenatal screening and diagnosis.
abstract: There have been tremendous advances in the ability to screen for the "odds" of having a genetic disorder (both mendelian and chromosomal). With microarray analyses on fetal tissue now showing a minimum risk for any pregnancy being at least 1 in 150 and ultimately greater than 1%, it is thought that all patients, regardless of age, should be offered chorionic villus sampling/amniocentesis and microarray analysis. As sequencing techniques replace other laboratory methods, the only question will be whether these tests are performed on villi, amniotic fluid cells, or maternal blood.
authors.affiliation: Comprehensive Genetics, PLLC and Fetal Medicine Foundation of America, 131 E65th Street, New York, NY 10065, USA; Department of Obstetrics & Gynecology, Mt. Sinai School of Medicine, 131 E65th Street, New York, NY 10065, USA. Electronic address: Evans@compregen.com.
authors.forename: Mark I
authors.initials: MI
authors.lastname: Evans
authors.affiliation: Comprehensive Genetics, PLLC and Fetal Medicine Foundation of America, 131 E65th Street, New York, NY 10065, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Andriole
authors.affiliation: Comprehensive Genetics, PLLC and Fetal Medicine Foundation of America, 131 E65th Street, New York, NY 10065, USA.
authors.forename: Shara M
authors.initials: SM
authors.lastname: Evans
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000639:trends; D015193:Chorionic Villi Sampling / Q000639:trends; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000523:psychology; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000523:psychology; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008423:Maternal Age; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011272:Pregnancy, Multiple; D011296:Prenatal Diagnosis / Q000379:methods / Q000639:trends
chemical_list: D005819:Genetic Markers
keywords: Amniocentesis; Chorionic villus sampling; Chromosomal; Fetal reduction; Genetic disorder; Mendelian; Multiple pregnancies; Pre-implantation diagnosis