caa a22 4500 445817984 CHVBK 20180317145234.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s10815-010-9489-1 doi (NATIONALLICENCE)springer-10.1007/s10815-010-9489-1 Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma [Elektronische Daten] [Ji Lim, Mee Kim, Shin Kim, Hye Kim, Mee Song, Min Kim, So Park, Jae Yang, Hyun Ryu] Purpose: To perform a reliable non-invasive detection of the fetal achondroplasia using maternal plasma. Methods: We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia. This method was applied in a non-invasive detection of the fetal achondroplasia using circulating fetal-DNA (cf-DNA) in maternal plasma. Maternal plasmas were obtained at 27weeks of gestational age from women carrying an achondroplasia fetus or a normal fetus. Results: Two percent or less achondroplasia DNA was reliably detected by QF-PCR. In a woman carrying a normal fetus, analysis of cf-DNA showed only one peak of the wild-type G allele. In a woman expected an achondroplasia fetus, analysis of cf-DNA showed the two peaks of wild-type G allele and mutant-type A allele and accurately detected the fetal achondroplasia. Conclusions: The non-invasive method using maternal plasma and QF-PCR may be useful for diagnosis of the fetal achondroplasia. Springer Science+Business Media, LLC, 2010 Achondroplasia nationallicence Non-invasive prenatal diagnosis nationallicence Maternal plasma nationallicence QF-PCR nationallicence Lim Ji Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut Kim Mee Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut Kim Shin Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut Kim Hye Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, KwanDong University School of Medicine, 1-19 Mookjung-dong, 100-380, Jung-gu, Seoul, South Korea aut Song Mee Department of Radiology, Cheil General Hospital and Women's Healthcare Center, KwanDong University College of Medicine, Seoul, South Korea aut Kim Min Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, KwanDong University School of Medicine, 1-19 Mookjung-dong, 100-380, Jung-gu, Seoul, South Korea aut Park So Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut Yang Jae Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, KwanDong University School of Medicine, 1-19 Mookjung-dong, 100-380, Jung-gu, Seoul, South Korea aut Ryu Hyun Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/2(2011-02-01), 167-172 1058-0468 28:2<167 2011 28 10815 https://doi.org/10.1007/s10815-010-9489-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10815-010-9489-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lim Ji Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut NATIONALLICENCE 700 1- Kim Mee Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut NATIONALLICENCE 700 1- Kim Shin Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut NATIONALLICENCE 700 1- Kim Hye Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, KwanDong University School of Medicine, 1-19 Mookjung-dong, 100-380, Jung-gu, Seoul, South Korea aut NATIONALLICENCE 700 1- Song Mee Department of Radiology, Cheil General Hospital and Women's Healthcare Center, KwanDong University College of Medicine, Seoul, South Korea aut NATIONALLICENCE 700 1- Kim Min Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, KwanDong University School of Medicine, 1-19 Mookjung-dong, 100-380, Jung-gu, Seoul, South Korea aut NATIONALLICENCE 700 1- Park So Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut NATIONALLICENCE 700 1- Yang Jae Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, KwanDong University School of Medicine, 1-19 Mookjung-dong, 100-380, Jung-gu, Seoul, South Korea aut NATIONALLICENCE 700 1- Ryu Hyun Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, South Korea aut NATIONALLICENCE 773 0- Journal of Assisted Reproduction and Genetics Springer US; http://www.springer-ny.com 28/2(2011-02-01), 167-172 1058-0468 28:2<167 2011 28 10815 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer