title: Referral patterns for microarray testing in prenatal diagnosis.
abstract: OBJECTIVE
  To understand the prenatal referral patterns from the United States, Canada, and Israel for two whole-genome microarray platforms, each with a different resolution.
  
  
  METHODS
  Physicians selected one of the two array designs to be performed on 1483 prenatal specimens for a 1-year period. We retrospectively examined detection rates, indications for study, and physician array selection.
  
  
  RESULTS
  The lower resolution array (55 K) showed an ~32% decrease in the detection of results of unclear clinical significance while retaining the ability to detect all but one significant abnormality identified by the higher resolution array (135 K). A majority of samples were referred for abnormal ultrasound findings. Whereas the United States and Canada utilized the higher resolution array more often for this indication, Israel preferred the 55 K array. Referral patterns for parental anxiety were similar for the United States and Israel, with most cases being tested on the 55 K array. Few cases were referred for advanced maternal age or family history of a genetic condition from either Canada or Israel.
  
  
  CONCLUSIONS
  Referral patterns varied between the countries and between indications for study. Understanding these differences will provide laboratories the critical information needed to develop array designs to meet the medical needs and patient desires for prenatal testing.
authors.affiliation: Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA. lisa.shaffer@perkinelmer.com
authors.forename: Lisa G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: Mindy Preston
authors.initials: MP
authors.lastname: Dabell
authors.forename: Jill A
authors.initials: JA
authors.lastname: Rosenfeld
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Neill
authors.forename: Blake C
authors.initials: BC
authors.lastname: Ballif
authors.forename: Justine
authors.initials: J
authors.lastname: Coppinger
authors.forename: Noa Rinzler
authors.initials: NR
authors.lastname: Diwan
authors.forename: Karen
authors.initials: K
authors.lastname: Chong
authors.forename: Mordechai
authors.initials: M
authors.lastname: Shohat
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D000328:Adult; D002170:Canada; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D015870:Gene Expression; D020869:Gene Expression Profiling; D005820:Genetic Testing; D015894:Genome, Human; D006801:Humans; D007557:Israel; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012017:Referral and Consultation / Q000706:statistics & numerical data; D012189:Retrospective Studies; D014481:United States