Prenatal Identification of Confined Placental Mosaicism in Pregnant Women with Fetal Growth Restriction

• Project/Area Number: 17K16870
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Obstetrics and gynecology
• Research Institution: Showa University
• Principal Investigator: Miyagami Keiko 昭和大学, 医学部, 助教 (40459178)
• Project Period (FY): 2017-04-01 – 2022-03-31
• Project Status: Completed (Fiscal Year 2021)
• Budget Amount: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000); Fiscal Year 2019: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
• Keywords: 胎盤性モザイク / 胎児発育不全 / 胎盤生モザイク / 周産期医学

Outline of Final Research Achievements

We demonstrated that massively parallel sequencing analysis of cfDNA in maternal plasma can be used to screen for CPM in FGR cases. In addition, we con- firmed that CPM cases accounted for approximately 10% of the causes of moderate or severe FGR. We also found that a higher percentage of abnormal karyotype cells in the placenta led to greater suppression of placental function and more severe FGR. Our results suggest that screening for CPM using maternal plasma and identifying the cause of FGR can contribute to subsequent individualized perinatal management according to the cause of the disease and to improving perinatal prognosis.

Academic Significance and Societal Importance of the Research Achievements

CPMがFGRの発症にどの程度関連しているかについて定量的に検討した研究であり、FGRの病態解明のためには貴重な研究である。また母体血漿中のcfDNAを分析することにより、FGRの原因としてCPMを評価することが可能であることを明らかにした。この方法の利点は、出生前に非侵襲的にCPMの存在を評価できることであり、この情報がFGRの個別化した周産期管理に活用でき、さらにはFGR妊婦への情報提供上も貴重なデータになるものと思われる。
今後は胎盤の染色体異常のみならず、微小欠失・重複などが見出され、それらの児発育への影響についても解明される可能性があるなど、臨床的意義の高い研究である。

Research Products

• [Journal Article] Prenatal Identification of Confined Placental Mosaicism in Pregnant Women with Fetal Growth Restriction. (2021)
  • Author(s): Miyagami K, Shirato N, Izumi M, Hirose T, Yasui O, Hamada S, Matsuoka R, Suzumori N, Sekizawa A.
  • Journal Title: Reproductive science Volume: 29 Issue: 3 Pages: 896-903
  • DOI: 10.1007/s43032-021-00772-3
  • Peer Reviewed
• [Journal Article] A case of Ewing's sarcoma identified via noninvasive prenatal testing (2020)
  • Author(s): Keiko Miyagami , Ryu Matsuoka, Mayumi Tokunaka, Nahoko Shirato, Mikiko Izumi, Tatsuko Hirose, Akihiko Sekizawa
  • Journal Title: Clinical Case Reports Volume: 8 Pages: 867-871
  • Peer Reviewed / Open Access
• [Journal Article] A case of Ewing's sarcoma identified via noninvasive prenatal testing (2020)
  • Author(s): Keiko Miyagami | Ryu Matsuoka | Mayumi Tokunaka | Nahoko Shirato | Mikiko Izumi | Tatsuko Hirose | Akihiko Sekizawa
  • Journal Title: Clinical Case Reports Volume: - Issue: 5 Pages: 867-871
  • DOI: 10.1002/ccr3.2673
  • Peer Reviewed / Open Access
• [Presentation] Prenatal testing for confined placental mosaicism associated with severe fetal growth restriction by analysis of cf DNA in maternal plasma (2022)
  • Author(s): Keiko Miyagami, Nahoko Shirato, Mikiko Izumi, Tatsuko Hirose, Osamu Yasui, Shoko Hamada, Ryu Matsuoka, Nobuhiro Suzumori, Akihiko Sekizawa,
  • Organizer: 日本産科婦人科学術集会
• [Presentation] 重症胎児発育不全の原因としての胎盤性モザイクの関与：母体血漿中cfDNAからの検討 (2020)
  • Author(s): 宮上 景子
  • Organizer: 第72回日本産科婦人科学会学術講演会
• [Presentation] 母体血漿中cfDNA解析による重症胎児発育不全の原因 としての胎盤性モザイクの検索 (2018)
  • Author(s): 宮上景子
  • Organizer: 第70回日本産科婦人科学会学術講演会
• [Presentation] 母体血漿中cfDNA解析による重症胎児発育不全の原因としての胎盤生モザイクの検索 (2018)
  • Author(s): 宮上景子
  • Organizer: 第70回日本産科婦人科学会学術講演会