title: Screening for fetal aneuploidy.
abstract: Screening is currently recommended in pregnancy for a number of genetic disorders, chromosomal aneuploidy, and structural birth defects in the fetus regardless of maternal age or family history. There is an overwhelming array of sonographic and maternal serum-based options available for carrying out aneuploidy risk assessment in the first and/or second trimester. As with any screening test, the patient should be made aware that a "negative" test or "normal" ultrasound does not guarantee a healthy baby and a "positive" test does not mean the fetus has the condition. The woman should have both pre- and post-test counseling to discuss the benefits, limitations, and options for additional testing. Rapid advancements of genetic technologies have made it possible to screen for the common aneuploidies traditionally associated with advanced maternal age with improved levels of accuracy beyond serum and ultrasound based testing. Prenatal screening for fetal genetic disorders with cell-free DNA has transformed prenatal care with yet unanswered questions related to the financial, ethical, and appropriate application in the provision of prenatal risk assessment.
authors.affiliation: Department of Maternal Fetal Medicine, Mount Carmel Health Systems, 6001 East Broad St, Office 3044, Columbus, OH 43213-1502. Electronic address: Britton.Rink@mchs.com.
authors.forename: Britton D
authors.initials: BD
authors.lastname: Rink
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, CA.
authors.forename: Mary E
authors.initials: ME
authors.lastname: Norton
mesh_terms: D000649:Amniocentesis; D000782:Aneuploidy; D006063:Chorionic Gonadotropin / Q000378:metabolism; D015193:Chorionic Villi Sampling; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005333:Fetus / Q000378:metabolism*; D005817:Genetic Counseling / Q000379:methods*; D006801:Humans; D008423:Maternal Age; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011266:Pregnancy-Associated Plasma Protein-A / Q000378:metabolism; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004247:DNA; D011266:Pregnancy-Associated Plasma Protein-A; C579283:PAPPA protein, human
keywords: cell-free fetal DNA; chromosomal aneuploidy; genetic testing; prenatal genetic counseling; prenatal screening; prenatal ultrasound