The Jikei University School of Medicine · Graduate School of Medicine / Faculty of Medicine

Research keywordsprenatal genetics・noninvasive fetal genotyping・placental biomarkers・recurrent miscarriage・cytogenetics

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• 着床前胚染色体異数性検査でモザイク胚と判定され胚移植を行った2症例の周産期管理と遺伝カウンセリング
• Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests.
• Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism.
• Amplicon sequencingに基づく非侵襲的胎児RHD遺伝子型判定(Amplicon Sequencing-Based Non-Invasive Fetal RHD Genotyping)

• ダウン症候群の臨床前モデルにおける酸化ストレス、早期老化、炎症の影響評価
• 神経学的機能向上のための胎児治療法開発を目的としたダウン症候群の特徴的発達に関連する生物学的機構の探索

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