The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: A review of the literature

  • Callaway J
  • Shaffer L
  • Chitty L
 et al. 
  • 45

    Readers

    Mendeley users who have this article in their library.
  • 51

    Citations

    Citations of this article.

Abstract

The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12,362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12,362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs.

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Authors

  • Jonathan L A Callaway

  • Lisa G. Shaffer

  • Lyn S. Chitty

  • Jill A. Rosenfeld

  • John A. Crolla

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free