title: Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA).
abstract: OBJECTIVE
  Evaluate patient choices and outcomes following positive cfDNA.
  
  
  METHODS
  Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, diagnostic testing, karyotype and outcome.
  
  
  RESULTS
  CfDNA was positive in 114 women; 105 singletons and 9 twin pairs. CfDNA was positive for autosomal trisomy (21, 18, 13) in 96 (84.2%) and sex chromosome aneuploidy in 18 (15.8%). Certified genetic counselors performed 95% of post-cfDNA counseling. Prenatal diagnostic testing was pursued by 71/114 (62%). Karyotype was available in 91/105 (86.7%) singletons and confirmed aneuploidy in 75/91 (82.4%); the PPV of cfDNA with any ultrasound finding was 93.6% versus 58.6% without a finding. An abnormal sonographic finding was seen in 4/16 (25%) singletons with false positive cfDNA. Fetal termination occurred in 53/79 (67%) singletons and 3/5 (60%) twins with prenatal abnormal or unknown karyotype for autosomal trisomy. Eleven fetuses (11/56, 19.6%) were terminated for suspected autosomal trisomy without karyotype confirmation.
  
  
  CONCLUSIONS
  Patient choices following positive cfDNA are varied. Ultrasound modifies the PPV of cfDNA. Termination rates for aneuploidy are not higher than historical controls. Recommendation for karyotype confirmation prior to termination is not universally followed. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.
authors.forename: Lori J
authors.initials: LJ
authors.lastname: Dobson
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.|Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA, USA.|Harvard Medical School, Boston, MA, USA.
authors.forename: Emily S
authors.initials: ES
authors.lastname: Reiff
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Little
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.|Harvard Medical School, Boston, MA, USA.
authors.forename: Louise
authors.initials: L
authors.lastname: Wilkins-Haug
authors.affiliation: Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.|Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA, USA.|Department of Radiology, Brigham and Women's Hospital, Boston, MA, USA.|Harvard Medical School, Boston, MA, USA.|Diagnostic Ultrasound Associates, PC., Brookline, MA, USA.
authors.forename: Bryann
authors.initials: B
authors.lastname: Bromley
mesh_terms: D000028:Abortion, Induced / Q000706:statistics & numerical data*; D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D002755:Choice Behavior; D025063:Chromosome Disorders / Q000175:diagnosis*; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D015331:Cohort Studies; D004247:DNA / Q000097:blood* / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping / Q000706:statistics & numerical data*; D062145:Maternal Serum Screening Tests; D008875:Middle Aged; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D012729:Sex Chromosome Aberrations; D014314:Trisomy / Q000175:diagnosis*; D000073839:Trisomy 13 Syndrome; D000073842:Trisomy 18 Syndrome; D055815:Young Adult
chemical_list: D004247:DNA