title: Use of cell-free fetal DNA in maternal plasma for noninvasive prenatal screening.
abstract: Noninvasive prenatal testing (NIPT) using cell-free fetal (cfDNA) offers potential as a screening tool for fetal anomalies. All pregnant women should be offered prenatal screening and diagnostic testing based on current guidelines. Adoption of NIPT in high-risk pregnancies suggests a change in the standard of care for genetic screening; there are advantages to an accurate test with results available early in pregnancy. This accuracy decreases the overall number of invasive tests needed for diagnosis, subjecting fewer pregnancies to the risks of invasive procedures. Women undergoing NIPT need informed consent before testing and accurate, sensitive counseling after results are available.
authors.affiliation: Division of Pediatric Surgery, Department of Surgery, Medical College of Wisconsin, 999 North 92nd Street, Suite C320, Milwaukee, WI 53226, USA.
authors.forename: Amy J
authors.initials: AJ
authors.lastname: Wagner
authors.affiliation: Division of Cardiothoracic Surgery, Department of Surgery, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.
authors.forename: Michael E
authors.initials: ME
authors.lastname: Mitchell
authors.affiliation: Division of Cardiothoracic Surgery, Department of Surgery, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA. Electronic address: amitchell@mcw.edu.
authors.forename: Aoy
authors.initials: A
authors.lastname: Tomita-Mitchell
mesh_terms: D025063:Chromosome Disorders / Q000097:blood / Q000175:diagnosis; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy / Q000175:diagnosis*; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome
chemical_list: D004247:DNA
keywords: Aneuploidy; Cell-free DNA; Noninvasive prenatal testing; Screening