Chromosomal microarray findings in pregnancies with an isolated pelvic kidney

Lena Sagi-Dain, Amihood Singer, Ayala Frumkin, Adel Shalata, Arie Koifman, Reeval Segel, Lilach Benyamini, Shlomit Rienstein, Morad Kahyat, Reuven Sharony, Idit Maya, Shay Ben Shachar

Research output: Contribution to journalArticlepeer-review

Abstract

To examine the risk for abnormal chromosomal microarray analysis (CMA) results among fetuses with an apparently isolated pelvic kidney. Data from all CMA analyses performed due to an isolated pelvic kidney reported to the Israeli Ministry of Health between January 2013 and September 2016 were retrospectively obtained. Risk estimation was performed comparing the rate of abnormal observed CMA findings to the general population risk, based on a systematic review encompassing 9272 cases and on local data of 5541 cases. Of 120 pregnancies with an isolated pelvic kidney, two gain-of-copy number variants suggesting microduplication syndromes were demonstrated (1.67%). In addition, three variants of unknown significance were detected (2.5%). The risk for clinically significant CMA findings among pregnancies with an isolated single pelvic kidney was not significantly different compared to both control populations. The results of our study question the practice of routine CMA analysis in fetuses with an isolated pelvic kidney.

Original languageEnglish
Pages (from-to)30-34
Number of pages5
JournalJournal of Perinatal Medicine
Volume47
Issue number1
DOIs
StatePublished - 1 Jan 2019
Externally publishedYes

Keywords

  • chromosomal aberrations
  • kidney abnormalities
  • microarray analysis
  • pelvic kidney

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