title: Noninvasive prenatal testing for fetal trisomy in a mixed risk factors pregnancy population.
abstract: OBJECTIVE
  This study assesses the performance of noninvasive prenatal testing (NIPT) for fetal aneuploidies in a mixed risk factors pregnancy population.
  
  
  METHODS
  Data review of 169 pregnant women undergoing prenatal aneuploidy screening in a single tertiary medical center was conducted. Indications included maternal anxiety, advanced maternal age, abnormal nuchal translucency, and high/moderate risk of first trimester Down syndrome screening. Multifetal pregnancies and patients receiving in vitro fertilization were also enrolled for analysis.
  
  
  RESULTS
  A total of 169 patients were enrolled in this study during a time period from July 2012 to June 2014. For patients' ≥ 34 years, anxiety about amniocentesis was the most common reason for patients selecting NIPT for fetal aneuploidy screening, with 107 (88.4%) patients choosing NIPT for this reason. Among the total patient population, two patients showed a positive result from NIPT. One patient displayed 47, XXY, which was confirmed to be a false-positive result. The other patient displayed trisomy 18, which was confirmed by an amniotic cell culture. The sensitivity for NIPT is 100% with the specificity 99.4%.
  
  
  CONCLUSIONS
  NIPT for fetal aneuploidy in a mixed risk factors pregnancy population showed high accuracy. NIPT applied to the low risk population might reassure the anxious family.
authors.affiliation: Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; National Yang-Ming University, School of Medicine, Taipei, Taiwan.
authors.forename: Wai-Hou
authors.initials: WH
authors.lastname: Li
authors.affiliation: Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; National Yang-Ming University, School of Medicine, Taipei, Taiwan.
authors.forename: Peng-Hui
authors.initials: PH
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; National Yang-Ming University, School of Medicine, Taipei, Taiwan.
authors.forename: Chi-Mu
authors.initials: CM
authors.lastname: Chuang
authors.affiliation: Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; National Yang-Ming University, School of Medicine, Taipei, Taiwan.
authors.forename: Yi-Wen
authors.initials: YW
authors.lastname: Chang
authors.affiliation: Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; National Yang-Ming University, School of Medicine, Taipei, Taiwan.
authors.forename: Ming-Jie
authors.initials: MJ
authors.lastname: Yang
authors.affiliation: Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; National Yang-Ming University, School of Medicine, Taipei, Taiwan. Electronic address: zachary.joyce@gmail.com.
authors.forename: Chih-Yao
authors.initials: CY
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; National Yang-Ming University, School of Medicine, Taipei, Taiwan.
authors.forename: Kuan-Chong
authors.initials: KC
authors.lastname: Chao
authors.affiliation: Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei, Taiwan; National Yang-Ming University, School of Medicine, Taipei, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Ming-Shyen
authors.initials: MS
authors.lastname: Yen
mesh_terms: D000328:Adult; D000649:Amniocentesis; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans; D062145:Maternal Serum Screening Tests; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012307:Risk Factors; D012680:Sensitivity and Specificity; D014314:Trisomy / Q000175:diagnosis*
keywords: Down syndrome; First trimester down screening; Non-invasive prenatal test; Nuchal translucency; Trisomy