title: A new model for providing cell-free DNA and risk assessment for chromosome abnormalities in a public hospital setting.
abstract: OBJECTIVE
  Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management.
  
  
  METHODS
  Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation. Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1) cfDNA; (2) integrated screening; (3) direct-to-invasive testing (chorionic villus sampling or amniocentesis); or (4) no first trimester diagnostic testing/screening. Patients underwent follow-up genetic counseling and detailed ultrasound at 18-20 weeks to review first trimester testing and finalize decision for amniocentesis.
  
  
  RESULTS
  Counseling and second trimester detailed ultrasound were provided to 163 women. Most selected cfDNA screening (69%) over integrated screening (0.6%), direct-to-invasive testing (14.1%), or no screening (16.6%). Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%, P < 0.05).
  
  
  CONCLUSIONS
  When counseled about screening options, women often chose cfDNA over integrated screening. This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting. Genetic counseling is an integral part of patient education and determination of plan of care.
authors.affiliation: Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, CA 95128, USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Wallerstein
authors.affiliation: Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Santa Clara Valley Medical Center, San Jose, CA 95128, USA.
authors.forename: Andrea
authors.initials: A
authors.lastname: Jelks
authors.affiliation: Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Santa Clara Valley Medical Center, San Jose, CA 95128, USA.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Garabedian
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000706:statistics & numerical data; D002474:Cell-Free System; D015193:Chorionic Villi Sampling / Q000706:statistics & numerical data; D025063:Chromosome Disorders / Q000097:blood / Q000175:diagnosis / Q000000981:diagnostic imaging; D002887:Chromosomes, Human, Pair 18 / Q000000981:diagnostic imaging; D004247:DNA / Q000032:analysis / Q000097:blood*; D004314:Down Syndrome / Q000097:blood* / Q000175:diagnosis / Q000000981:diagnostic imaging; D005260:Female; D005817:Genetic Counseling; D033142:Genetic Services; D006779:Hospitals, Public; D006801:Humans; D008423:Maternal Age; D010353:Patient Education as Topic; D057240:Patient Preference; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D016730:Program Development; D014314:Trisomy / Q000175:diagnosis*; D000073842:Trisomy 18 Syndrome; D016216:Ultrasonography, Prenatal
chemical_list: D004247:DNA
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