Zobrazeno 1 - 10
of 1 033
pro vyhledávání: '"Increased nuchal translucency"'
Autor:
Jia Huang, Dong Wu, Jia-Huan He, Jing-Yuan Wang, Xi Li, Zheng-Yuan Wang, Yue Wang, Hong-Yan Liu
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
ObjectivesRegarding increased nuchal translucency (NT), the cutoff values used are heterogeneous in clinical practice, this study aims to assess the efficacy of prenatal detection for chromosomal abnormalities and pregnancy outcomes in fetuses with v
Externí odkaz:
https://doaj.org/article/4be3772da8414e71a189c0a2e2731df6
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 11, Pp n/a-n/a (2023)
Abstract Background Increased nuchal translucency (NT) is associated with an increased risk for genetic disorders. The aim of this study was to investigate the value of whole‐exome sequencing (WES) in detecting genetic abnormalities for fetuses wit
Externí odkaz:
https://doaj.org/article/a1f5a48022da4754a752ec23ef2662e9
Autor:
Chih-Ping Chen
Publikováno v:
Journal of Medical Ultrasound, Vol 31, Iss 1, Pp 13-16 (2023)
Prenatal diagnosis of euploid increased nuchal translucency (NT) remains a challenge to obstetricians and genetic counselors, although increased euploid NT at prenatal diagnosis can be associated with a favorable outcome. Prenatal diagnosis of euploi
Externí odkaz:
https://doaj.org/article/a9d4622ed00a4549993f584a67d0a801
Akademický článek
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Autor:
Chih-Ping Chen, Jui-Der Liou, Kok-Min Seow, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Li-Feng Chen, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 59, Iss 5, Pp 758-762 (2020)
Objective: We present prenatal diagnosis of terminal 2q deletion and distal 10q duplication of paternal origin in a fetus associated with increased nuchal translucency and abnormal maternal serum screening results. Case report: A 26-year-old woman wh
Externí odkaz:
https://doaj.org/article/905ff26d04d24cca975dc8c91a7cd81c
Autor:
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
Publikováno v:
Diagnostics, Vol 13, Iss 1, p 48 (2022)
Fetal Nuchal fluid collections can manifest with two distinct presentations attributable to the same phenotypic spectrum: increased nuchal translucency (iNT) and cystic hygroma. The prenatal detection of these findings should prompt an accurate asses
Externí odkaz:
https://doaj.org/article/c64ca71febf946c8a8bcb74933338c65
Akademický článek
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Publikováno v:
Clinical Case Reports, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Pfeiffer syndrome (PS) is a rare autosomal dominant genetic disorder characterized by craniosynostosis, broad thumbs / toes. Here, we report a case of PS type 2 with increased nuchal translucency in early trimester.
Externí odkaz:
https://doaj.org/article/fbbfec462e8d489bbd08ca942a57659a
Autor:
Dongsook Lee, Sohyun Na, Surim Park, Sanghee Go, Jinyoung Ma, Soonha Yang, Kichul Kim, Seunggwan Lee, Doyeong Hwang
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Conventional cytogenetic analysis using G-band karyotyping has been the method of choice for prenatal diagnosis, accurately detecting chromosomal abnormalities larger than 5 Mb. However, the method is inefficient for detecting the
Externí odkaz:
https://doaj.org/article/10802143ad2147a2963d44d5f6b3d068
Akademický článek
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