Literature DB >> 28010042

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

Diana W Bianchi1.   

Abstract

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. © 2016 John Wiley & Sons, Ltd.

Entities:  

Mesh:

Year:  2017        PMID: 28010042     DOI: 10.1002/pd.4993

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  1 in total

Review 1.  Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review.

Authors:  Xiaofan Zhu; Doris Yuk Man Lam; Matthew Hoi Kin Chau; Shuwen Xue; Peng Dai; Ganye Zhao; Ye Cao; Sunny Wai Hung Cheung; Yvonne Ka Yin Kwok; Kwong Wai Choy; Xiangdong Kong; Tak Yeung Leung
Journal:  Genes (Basel)       Date:  2020-12-24       Impact factor: 4.096

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.