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- 저자 : ( Haruhiko Sago ) (검색결과 5 건)
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The current state of fetal therapy in Japan
( Haruhiko Sago ) 대한산부인과학회 2018 대한산부인과학회 학술대회 Vol.104 No.-
With recent advances in fetal medicine, the concept of the fetus as a patient has led to the application of treatments in utero. The few remaining fetal abnormalities with predictable devastating consequences can generally be treated prior to birth. It is important to examine the role of fetal therapy in such circumstances. I herein report our experiences in the area of fetal therapy with the step-by-step advances in fetal therapy as well as the results of clinical studies that have been performed in Japan. A total of 870 women received fetal treatment at our institute from 2002-2017. Fetoscopic laser photocoagulation (FLP) of the placental communicating vessels was used to treat 618 twin-twin transfusion syndrome (TTTS) patients. Thoracoamniotic shunting (TAS) was performed in 73 cases of severe fetal hydrothorax (FHT). Radiofrequency ablation (RFA) was performed to discontinue the blood flow to an acardiac, nonviable twin and to protect the normal pump twin in 57 cases of twin-reversed arterial perfusion (TRAP) sequence. FLP was the most common and successful fetal intervention, followed by TAS and RFA. Overall, good outcomes were achieved for TTTS patients treated by FLP in Japan. The survival rates after FLP are 70% for both twins and 95% for at least 1 twin. FLP has been covered by national health insurance in Japan since 2012. We performed a clinical study to show the effectiveness of TAS using a double-basket catheter to treat FHT. The survival rate among the cases with hydrops was 70%. TAS has also been covered by national health insurance in Japan since 2012. Two studies of RFA for TRAP sequence were performed in Japan. Both showed favorable survival rates of the pump twin. We investigated the feasibility and safety of fetoscopic endoluminal tracheal occlusion (FETO) for fetuses with liver-up left-sided congenital diaphragmatic hernia (LCDH). Endotracheal placement of the balloon was successfully performed in all 11 cases. Five survived with surgical repair of diaphragmatic hernia (survival rate: 45.5%). We are now preparing to perform treatments in fetuses with critical aortic stenosis and myelomeningocele. The studies discussed above were performed by the Japan Fetal Therapy Group (http://fetusjapan.jp/),aresearchgroupforprenatalpatientsinJapan.Well-designedstudieswithcautiouspreparationforproceduresaree ssentialforpromotingfetaltherapy.
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Fetal therapies as standard prenatal care in Japan
( Haruhiko Sago ),( Seiji Wada ) 대한산부인과학회 2020 Obstetrics & Gynecology Science Vol.63 No.2
With recent advances in fetal medicine, various attempts have been made to save fetuses facing perinatal death or devastating consequences despite optimal management after birth. The concept of the fetus as a patient has been established through the application of in utero treatments. This paper reviews fetal therapies in order to highlight the role of perinatal medicine as standard prenatal care. Fetal therapies consist of medical therapy, percutaneous ultrasound-guided surgery, fetoscopic surgery, and open fetal surgery. In the 1980s, with advances in ultrasound imaging, percutaneous ultrasound-guided surgeries such as vesicoamniotic shunting for lower urinary tract obstruction and thoracoamniotic shunting (TAS) for fetal hydrothorax (FHT) were started. In the 1990s, fetoscopic laser surgery (FLS) for twin-twin transfusion syndrome (TTTS) was introduced, and later, a fetoscopic approach for congenital diaphragmatic hernia was also established. The revival of open fetal surgery, introduced in the 1980s by pediatric surgeons, began in the 2010s after a successful clinical study for myelomeningocele. Although many fetal therapies are still considered experimental, some have proven effective, such as FLS for TTTS, TAS for primary FHT, and radiofrequency ablation (RFA) for twin reversed arterial perfusion (TRAP) sequence. These three fetal therapies have been approved for coverage by Japan National Health Insurance as a result of clinical studies performed in Japan. FLS for TTTS, TAS for primary FHT, and RFA for TRAP sequence have become standard prenatal care approaches in Japan. These three minimally invasive fetal therapies will help improve the perinatal outcomes of fetuses with these disorders.
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Prenatal Diagnosis of Mucolipidosis Type II: Comparison of Biochemical and Molecular Analyses
Kosuga, Motomichi,Okada, Michiyo,Migita, Osuke,Tanaka, Toju,Sago, Haruhiko,Okuyama, Torayuki Association for Research of MPS and Rare Diseases 2016 Journal of mucopolysaccharidosis and rare disease Vol.2 No.1
Purpose: Mucolipidosis type II (ML II), also known as I-cell disease is an autosomal recessive inherited disorder of lysosomal enzyme transport caused by a deficiency of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase). Clinical manifestations are skeletal abnormalities, mental retardation, cardiac disease, and respiratory complications. A severely and rapidity progressive clinical course leads to death before 10 years of age. Methods/Results: In this study we diagnosed three cases of prenatal ML II in two different at-risk families. We compared two procedures -biochemical analysis and molecular analysis - for the prenatal diagnosis of ML II. Both methods require an invasive procedure to obtain specimens for the diagnosis. Biochemical analysis requires obtaining cell cultures from amniotic fluid for more than two weeks, and would result in a late diagnosis at 19 to 22 weeks of gestation. Molecular genetic testing by direct sequence analysis is usually possible when mutations are confirmed in the proband. Molecular analysis has an advantage in that it can be performed during the first-trimester. Conclusion: Molecular diagnosis is a preferable method when a prompt decision is necessary.
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