Should we report 15q11.2 BP1-BP2 deletions and duplications in the prenatal setting?

Idit Maya, Sharon Perlman, Mordechai Shohat, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Ifaat Agmon-Fishman, Reut Tomashov Matar, Lina Basel-Salmon, Rivka Sukenik-Halevy*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Copy number variations of the 15q11.2 region at breakpoints 1-2 (BP1-BP2) have been associated with variable phenotypes and low penetrance. Detection of such variations in the prenatal setting can result in significant parental anxiety. The clinical significance of pre-and postnatally detected 15q11.2 BP1-BP2 deletions and duplications was assessed. Of 11,004 chromosomal microarray tests performed in a single referral lab (7596 prenatal, 3408 postnatal), deletions were detected in 66 cases: 39 in prenatal tests (0.51%) and 27 in postnatal tests (0.79%). Duplications were detected in 94 cases: 62 prenatal tests (0.82%) and 32 postnatal tests (0.94%). The prevalence of deletions and duplications among clinically indicated prenatal tests (0.57% and 0.9%, respectively) did not differ significantly in comparison to unindicated tests (0.49% and 0.78%, respectively). The prevalence of deletions and duplications among postnatal tests performed for clinical indications was similar to the prevalence in healthy individuals (0.73% and 1% vs. 0.98% and 0.74%, respectively). The calculated penetrance of deletions and duplications over the background risk was 2.18% and 1.16%, respectively. We conclude that the pathogenicity of 15q11.2 BP1-BP2 deletions and duplications is low. Opting out the report of these copy number variations to both clinicians and couples should be considered.

Original languageEnglish
Article number2602
Pages (from-to)1-12
Number of pages12
JournalJournal of Clinical Medicine
Volume9
Issue number8
DOIs
StatePublished - Aug 2020

Keywords

  • 15q11.2
  • BP1-BP2
  • Chromosomal microarray
  • Deletions
  • Duplications
  • Penetrance
  • Phenotype

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