第4回日本産科婦人科遺伝診療学会 - イルミナ株式会社

第4回日本産科婦人科遺伝診療学会

スクエア荏原 | Japan, Asia
Topic: Reproductive & Genetic Health
ランチョンセミナー
日程 12月15日(土) 12:50~13:40
会場 スクエア荏原
座長 広島大学医学部産婦人科 教授
工藤 美樹 先生
演者 Nicola Flowers
NIPT Section Leader
Victorian Clinical Genetics Services
Murdoch Children’s Research Institute
演題 The application of genome-wide non-invasive prenatal testing to support pregnancy management in an Australian population
要旨

This presentation will provide a brief background into cell-free DNA screening using a genome-wide methodology. There will be an overview of current literature into different applications of this methodology. The applications of genome-wide cell-free DNA screening discussed will include:

  • Rare autosomal trisomies,
  • Subchromosomal changes, and
  • Screening pregnancies of balanced reciprocal translocation carriers.

Non-invasive prenatal testing (NIPT) has been widely available in Australia since 2013. The Victorian Clinical Genetics Services (VCGS) have been offering NIPT since 2015 and in this time have screened over 50,000 pregnancies. Data from this cohort will be presented including specific cases which illustrate the utility of using a genome-wide NIPT methodology to aid in pregnancy management.



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