Zobrazeno 1 - 10
of 7 063
pro vyhledávání: '"Fetal dna"'
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a less invasive approach to prenatal chromosomal disease screening, providing prosp
Externí odkaz:
https://doaj.org/article/7e79e4ad10a44752abf3795a2404a490
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundChromosomal abnormalities are the main cause of birth defects in newborns. Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been applied to the detection of common trisomy (T21, T18, T13). However, the
Externí odkaz:
https://doaj.org/article/fc373c8d67f249e08aacc7d2d99b81cd
Publikováno v:
陆军军医大学学报, Vol 45, Iss 24, Pp 2563-2569 (2023)
Objective To perform the noninvasive genetic typing of α-thalassemia (--SEA) by deep sequencing of cell-free fetal DNA (cffDNA) in maternal plasma using high-throughput sequencing technology. Methods α-thalassemia genotyping was performed on cffDNA
Externí odkaz:
https://doaj.org/article/3331e20d0c284141a997958d7c5287ff
Autor:
Valérie M. Schwitzgebel, Jean-Louis Blouin, Barbara Dehos, Bettina Köhler-Ballan, Jardena J. Puder, Claudine Rieubland, Maria Triantafyllidou, Anne Zanchi, Marc Abramowicz, Thierry Nouspikel
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundMutations in the GCK gene cause Maturity Onset Diabetes of the Young (GCK-MODY) by impairing glucose-sensing in pancreatic beta cells. During pregnancy, managing this type of diabetes varies based on fetal genotype. Fetuses carrying a GCK m
Externí odkaz:
https://doaj.org/article/e4add68890ec4c8bb0e802631da0d9d9
Akademický článek
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Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Background So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of trisomy 8 mos
Externí odkaz:
https://doaj.org/article/53e1be581e0645c9b100baaf1cffce60
Akademický článek
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Autor:
Kypri Elena, Ioannides Marios, Achilleos Achilleas, Koumbaris George, Patsalis Philippos, Stumm Markus
Publikováno v:
Journal of Laboratory Medicine, Vol 46, Iss 4, Pp 311-320 (2022)
Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21. With further technical development the
Externí odkaz:
https://doaj.org/article/49901d1d08414a0b922c5f2a37eb2c40
Autor:
Kirolos Eskandar
Publikováno v:
Iberoamerican Journal of Medicine, Vol 4, Iss 4, Pp 229-236 (2022)
According to the global report on birth defects in 2021, it is estimated that 8 million children are born with birth defects of genetic origin annually. These birth defects vary in their degree of severity; where some types are mild and do not requir
Externí odkaz:
https://doaj.org/article/322e354bfe804f01969ff259c162b762
Publikováno v:
International Journal of Women's Health, Vol Volume 14, Pp 889-897 (2022)
Xiaosong Yuan, Xiaoya Han, Chenbo Jia, Wenbo Zhou, Bin Yu Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center, Nanjing Medical University, Changzhou, People’s Republic of ChinaCorrespondence:
Externí odkaz:
https://doaj.org/article/65bcd3c748e0467eb93d7c4da524e031