title: Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing.
abstract: OBJECTIVE
  Since the introduction of noninvasive prenatal testing (NIPT), a marked decrease in prenatal diagnostic testing (chorionic villus sampling [CVS] and amniocentesis) has been observed with unknown potential effects on genetic diagnosis of these pregnancies. The purpose of this study was to understand the impact of NIPT on genetics counseling referrals, diagnostic testing with CVS/amniocentesis, and appropriate use of NIPT.
  
  
  METHODS
  A retrospective cohort study was performed on all women referred for genetic counseling and prenatal testing during the 2 years preceding the introduction of NIPT (pre-NIPT) and 2 years following (post-NIPT). The primary outcome was the difference in the number of women referred for genetic counseling and prenatal diagnosis during the pre-NIPT period compared with the post-NIPT period. The secondary outcome was the difference in the number of women referred who were not considered candidates for NIPT between the 2 study periods.
  
  
  RESULTS
  There was a statistically significant reduction in the number of referrals for genetic counseling and diagnostic testing in the post-NIPT compared with the pre-NIPT period (2824 vs 3944, P = .001), a reduction of 28.4%. During the post-NIPT period there was a significant reduction in referrals of women who would not be candidates for NIPT (467 pre-NIPT vs 285 post-NIPT, P = .043). In women who had diagnostic testing with CVS during the study period, 32.4% of the aneuploidies identified would not have been detected by NIPT.
  
  
  CONCLUSIONS
  There was a significant reduction in the number of patients referred for genetic counseling and prenatal diagnosis following the introduction of NIPT. In addition, there was a significant reduction in the number of patients referred for counseling and testing who would not be candidates for NIPT. This suggests that an increasing number of potential patients are being offered NIPT screening instead of diagnostic testing, including those at risk for fetal single gene disorders and aneuploidies not detectable by NIPT, potentially leading to misdiagnosis.
authors.affiliation: Division of Maternal-Fetal Medicine, Cedars-Sinai Medical Center, Los Angeles, CA; Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA. Electronic address: williamsj@cshs.org.
authors.forename: John
authors.initials: J
authors.lastname: Williams
authors.affiliation: Division of Maternal-Fetal Medicine, Cedars-Sinai Medical Center, Los Angeles, CA; Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA.
authors.forename: Steve
authors.initials: S
authors.lastname: Rad
authors.affiliation: Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA.
authors.forename: Sarah
authors.initials: S
authors.lastname: Beauchamp
authors.affiliation: Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA.
authors.forename: Dalar
authors.initials: D
authors.lastname: Ratousi
authors.affiliation: Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA.
authors.forename: Vaishnavi
authors.initials: V
authors.lastname: Subramaniam
authors.affiliation: Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA.
authors.forename: Sayeh
authors.initials: S
authors.lastname: Farivar
authors.affiliation: Division of Reproductive Endocrinology and Infertility, Cedars-Sinai Medical Center, Los Angeles, CA; Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA.
authors.forename: Margareta D
authors.initials: MD
authors.lastname: Pisarska
mesh_terms: D000328:Adult; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D005260:Female; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data*; D012017:Referral and Consultation / Q000706:statistics & numerical data*; D016216:Ultrasonography, Prenatal / Q000706:statistics & numerical data
keywords: amniocentesis; chorionic villus sampling; noninvasive prenatal testing; prenatal diagnosis