title: A first look at women's perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes.
abstract: OBJECTIVE
  The aim of this study is to explore women's opinions about the use of noninvasive prenatal testing (NIPT) to assess the risk of sex chromosome aneuploidies and microdeletion syndromes.
  
  
  METHODS
  Focus groups were conducted with women who were currently pregnant or had recently delivered. Qualitative analysis using interpretive description was used to generate study findings.
  
  
  RESULTS
  Thirty-one women (mean age 32.4 years) participated in the focus groups. Participants were unfamiliar with sex chromosome aneuploidies but expressed support for the use of NIPT to detect these conditions. Participants were uncertain about the utility and actionability of receiving information about microdeletion syndromes with variable or unknown phenotypic expression. Participants voiced their desire to be informed of all conditions assessed by NIPT prior to testing. They considered clinicians to be the key provider of such information, although stated that patients have a responsibility to be knowledgeable prior to testing in order to support informed decision making.
  
  
  CONCLUSIONS
  The use of NIPT to identify sex chromosome aneuploidies and microdeletion syndromes will introduce new challenges for clinicians to ensure pregnant women have the information and resources to make informed choices about NIPT when used for these conditions.
authors: Department of Bioethics, Cleveland Clinic, Cleveland, OH, USA.
authors: Patricia K
authors: PK
authors: Agatisa
authors: Department of Bioethics, Cleveland Clinic, Cleveland, OH, USA.
authors: Mary Beth
authors: MB
authors: Mercer
authors: Department of Bioethics, Cleveland Clinic, Cleveland, OH, USA.
authors: Angela C
authors: AC
authors: Leek
authors: Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
authors: Marissa B
authors: MB
authors: Smith
authors: Department of Obstetrics & Gynecology, Cleveland Clinic Women's Health Institute, Cleveland, OH, USA.
authors: Elliot
authors: E
authors: Philipson
authors: Department of Bioethics, Cleveland Clinic, Cleveland, OH, USA.|Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.|Department of Obstetrics & Gynecology, Cleveland Clinic Women's Health Institute, Cleveland, OH, USA.
authors: Ruth M
authors: RM
authors: Farrell
mesh_terms: D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D017144:Focus Groups; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D062145:Maternal Serum Screening Tests / Q000523:psychology*; D008875:Middle Aged; D010342:Patient Acceptance of Health Care / Q000523:psychology*; D010353:Patient Education as Topic; D011247:Pregnancy; D036301:Qualitative Research; D025064:Sex Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D055815:Young Adult