Should we 'open the kimono' to release the results of rare autosomal aneuploidies following noninvasive prenatal whole genome sequencing?

Prenat Diagn. 2017 Feb;37(2):123-125. doi: 10.1002/pd.4993. Epub 2017 Jan 24.


The metaphor 'open kimono' has been applied in the business world to connote transparency via the release of all available data to an external party. Here, the author uses this term to discuss the relative advantages and disadvantages of reporting on the presence of rare autosomal aneuploidies detected by massively parallel sequencing of placental cell-free DNA in the plasma of pregnant women. Newly presented data sets from multiple laboratories suggest that autosomal aneuploidies such as trisomies 7, 15, 16, 22, and 8 are easily detectable and are potentially associated with fetal growth restriction, pregnancy loss, and maternal preeclampsia. Furthermore, they may explain false positive results for the common autosomal trisomies (13, 18, and 21) as well as test failures. Thus, release of this information may result in improved clinical utility. At the present time, however, professional societies in various parts of the world differ in their recommendations as to whether or not to release expanded autosomal aneuploidy results beyond the common trisomies. © 2016 John Wiley & Sons, Ltd.

Publication types

  • Congress

MeSH terms

  • Aneuploidy*
  • Disclosure* / ethics
  • Disclosure* / standards
  • Female
  • Genetic Testing / methods
  • High-Throughput Nucleotide Sequencing* / methods
  • Humans
  • Karyotyping
  • Pregnancy
  • Prenatal Diagnosis* / ethics
  • Prenatal Diagnosis* / methods
  • Rare Diseases / genetics*
  • Sequence Analysis, DNA / methods