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Page 1
How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research.
Leoncini E, Botto LD, Cocchi G, Annerén G, Bower C, Halliday J, Amar E, Bakker MK, Bianca S, Canessa Tapia MA, Castilla EE, Csáky-Szunyogh M, Dastgiri S, Feldkamp ML, Gatt M, Hirahara F, Landau D, Lowry RB, Marengo L, McDonnell R, Mathew TM, Morgan M, Mutchinick OM, Pierini A, Poetzsch S, Ritvanen A, Scarano G, Siffel C, Sípek A, Szabova E, Tagliabue G, Vollset SE, Wertelecki W, Zhuchenko L, Mastroiacovo P. Leoncini E, et al. Among authors: hirahara f. Am J Med Genet A. 2010 Jul;152A(7):1670-80. doi: 10.1002/ajmg.a.33493. Am J Med Genet A. 2010. PMID: 20578135 Free article.
Preferential associations between oral clefts and other major congenital anomalies.
Rittler M, López-Camelo JS, Castilla EE, Bermejo E, Cocchi G, Correa A, Csaky-Szunyogh M, Danderfer R, De Vigan C, De Walle H, da Graça Dutra M, Hirahara F, Martínez-Frías ML, Merlob P, Mutchinick O, Ritvanen A, Robert-Gnansia E, Scarano G, Siffel C, Stoll C, Mastroiacovo P. Rittler M, et al. Among authors: hirahara f. Cleft Palate Craniofac J. 2008 Sep;45(5):525-32. doi: 10.1597/06-250.1. Cleft Palate Craniofac J. 2008. PMID: 18788868
Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan.
Yamada T, Sekizawa A, Fujii Y, Hirose T, Samura O, Suzumori N, Miura K, Sawai H, Hirahara F, Murotsuki J, Kamei Y, Sago H; Japan NIPT consortium*. Yamada T, et al. Among authors: hirahara f. J Hum Genet. 2018 Oct;63(10):1035-1040. doi: 10.1038/s10038-018-0453-8. Epub 2018 May 30. J Hum Genet. 2018. PMID: 29849041 Clinical Trial.
Changes in the number of babies born with Down syndrome in Japan.
Sugo Y, Kurasawa K, Saigusa Y, Hamanoue H, Hirahara F, Miyagi E. Sugo Y, et al. Among authors: hirahara f. J Obstet Gynaecol Res. 2022 Sep;48(9):2385-2391. doi: 10.1111/jog.15342. Epub 2022 Jun 28. J Obstet Gynaecol Res. 2022. PMID: 35762191
Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy.
Suzumori N, Ebara T, Yamada T, Samura O, Yotsumoto J, Nishiyama M, Miura K, Sawai H, Murotsuki J, Kitagawa M, Kamei Y, Masuzaki H, Hirahara F, Saldivar JS, Dharajiya N, Sago H, Sekizawa A; Japan NIPT Consortium. Suzumori N, et al. Among authors: hirahara f. J Hum Genet. 2016 Jul;61(7):647-52. doi: 10.1038/jhg.2016.25. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984559
A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan.
Yotsumoto J, Sekizawa A, Suzumori N, Yamada T, Samura O, Nishiyama M, Miura K, Sawai H, Murotsuki J, Kitagawa M, Kamei Y, Masuzaki H, Hirahara F, Endo T, Fukushima A, Namba A, Osada H, Kasai Y, Watanabe A, Katagiri Y, Takeshita N, Ogawa M, Okai T, Izumi S, Hamanoue H, Inuzuka M, Haino K, Hamajima N, Nishizawa H, Okamoto Y, Nakamura H, Kanegawa T, Yoshimatsu J, Tairaku S, Naruse K, Masuyama H, Hyodo M, Kaji T, Maeda K, Matsubara K, Ogawa M, Yoshizato T, Ohba T, Kawano Y, Sago H; Japan NIPT Consortium. Yotsumoto J, et al. Among authors: hirahara f. J Hum Genet. 2016 Dec;61(12):995-1001. doi: 10.1038/jhg.2016.96. Epub 2016 Sep 8. J Hum Genet. 2016. PMID: 27604555
Correction: Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan.
Yamada T, Sekizawa A, Fujii Y, Hirose T, Samura O, Suzumori N, Miura K, Sawai H, Hirahara F, Murotsuki J, Kamei Y, Sago H; Japan NIPT consortium*. Yamada T, et al. Among authors: hirahara f. J Hum Genet. 2018 Oct;63(10):1097-1098. doi: 10.1038/s10038-018-0486-z. J Hum Genet. 2018. PMID: 30069028
Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13.
Suzumori N, Sekizawa A, Takeda E, Samura O, Sasaki A, Akaishi R, Wada S, Hamanoue H, Hirahara F, Sawai H, Nakamura H, Yamada T, Miura K, Masuzaki H, Nakayama S, Kamei Y, Namba A, Murotsuki J, Yamaguchi M, Tairaku S, Maeda K, Kaji T, Okamoto Y, Endo M, Ogawa M, Kasai Y, Ichizuka K, Yamada N, Ida A, Miharu N, Kawaguchi S, Hasuo Y, Okazaki T, Ichikawa M, Izumi S, Kuno N, Yotsumoto J, Nishiyama M, Shirato N, Hirose T, Sago H. Suzumori N, et al. Among authors: hirahara f. Eur J Obstet Gynecol Reprod Biol. 2021 Jan;256:75-81. doi: 10.1016/j.ejogrb.2020.10.050. Epub 2020 Oct 27. Eur J Obstet Gynecol Reprod Biol. 2021. PMID: 33171421
Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.
Sasaki Y, Yamada T, Tanaka S, Sekizawa A, Hirose T, Suzumori N, Kaji T, Kawaguchi S, Hasuo Y, Nishizawa H, Matsubara K, Hamanoue H, Fukushima A, Endo M, Yamaguchi M, Kamei Y, Sawai H, Miura K, Ogawa M, Tairaku S, Nakamura H, Sanui A, Mizuuchi M, Okamoto Y, Kitagawa M, Kawano Y, Masuyama H, Murotsuki J, Osada H, Kurashina R, Samura O, Ichikawa M, Sasaki R, Maeda K, Kasai Y, Yamazaki T, Neki R, Hamajima N, Katagiri Y, Izumi S, Nakayama S, Miharu N, Yokohama Y, Hirose M, Kawakami K, Ichizuka K, Sase M, Sugimoto K, Nagamatsu T, Shiga T, Tashima L, Taketani T, Matsumoto M, Hamada H, Watanabe T, Okazaki T, Iwamoto S, Katsura D, Ikenoue N, Kakinuma T, Hamada H, Egawa M, Kasamatsu A, Ida A, Kuno N, Kuji N, Ito M, Morisaki H, Tanigaki S, Hayakawa H, Miki A, Sasaki S, Saito M, Yamada N, Sasagawa T, Tanaka T, Hirahara F, Kosugi S, Sago H; Japan N. I. P. T. Consortium. Sasaki Y, et al. Among authors: hirahara f. J Obstet Gynaecol Res. 2021 Oct;47(10):3437-3446. doi: 10.1111/jog.14954. Epub 2021 Aug 5. J Obstet Gynaecol Res. 2021. PMID: 34355471
195 results