title: Stepwise sequential aneuploidy screening in clinical practice.
abstract: OBJECTIVE
  To evaluate stepwise sequential screening (SSS) efficiency in clinical practice.
  
  
  METHODS
  All singletons undergoing SSS in a single practice by NTQR (Nuchal Translucency Quality Review Program)-credentialed providers in a 2-year period were included. Prenatal diagnosis was offered to all screen-positive women and those with a nuchal translucency ≥3.5 mm or cystic hygroma at the 11- to 14-week scan. Data were extracted from prospectively ascertained serum screening and genetics databases.
  
  
  RESULTS
  A total of 2,726 patients were screened, with SSS detecting all eight cases of trisomy 21 and all seven cases of other aneuploidies at a 4.3% screen-positive rate.
  
  
  CONCLUSIONS
  Stepwise sequential screening offers excellent aneuploidy screening efficiency when introduced into clinical practice.
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA.
authors.forename: Joseph R
authors.initials: JR
authors.lastname: Wax
authors.forename: Angelina
authors.initials: A
authors.lastname: Cartin
authors.forename: Dwight
authors.initials: D
authors.lastname: Smith
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Smith
authors.forename: Renée
authors.initials: R
authors.lastname: Chard
authors.forename: Molly
authors.initials: M
authors.lastname: Carpenter
authors.forename: Michael G
authors.initials: MG
authors.lastname: Pinette
mesh_terms: D000328:Adult; D000465:Algorithms; D000649:Amniocentesis; D000782:Aneuploidy; D015415:Biomarkers / Q000097:blood; D015193:Chorionic Villi Sampling; D025063:Chromosome Disorders / Q000175:diagnosis*; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011257:Pregnancy Proteins / Q000097:blood; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies
chemical_list: D015415:Biomarkers; D011257:Pregnancy Proteins