Zobrazeno 1 - 10
of 2 034
pro vyhledávání: '"Nipt"'
Autor:
Chih-Ping Chen, Shun-Long Weng, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Wen-Lin Chen, Chien-Wen Yang, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 909-912 (2024)
Objective: We present first-trimester application of expanded non-invasive prenatal testing (NIPT) in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.
Externí odkaz:
https://doaj.org/article/08715fcd276149e3925dea0af7175041
Autor:
Thomas Liehr
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 6, Pp 892-895 (2024)
Objective: Noninvasive prenatal testing (NIPT) has been introduced in prenatal genetics, recently. Even though it is connected with biological, technical, medical and ethical issues also reviewed here, it is meanwhile applied as a standard screening
Externí odkaz:
https://doaj.org/article/e280cc0021a44837bd55f8f4dc860384
Autor:
Chih-Ping Chen
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 5, Pp 633-636 (2024)
Genetic counseling of mosaic and non-mosaic tetrasomy 9p remains difficult because of the possible associated congenital abnormalities, cytogenetic discrepancy in various tissues, true-positive and false-positive diagnosis in non-invasive prenatal te
Externí odkaz:
https://doaj.org/article/39683af4052345d6af54ded565196c02
Autor:
Hamood AlSudais, Abdulrahman Alshalani, Sarah Alajaji, Salma Alsaadoun, Leyan Alsaiari, Yasir Almuhanna, Mohammed Asad, Hazem K. Ghneim
Publikováno v:
Heliyon, Vol 10, Iss 22, Pp e40379- (2024)
Since its introduction a decade ago, non-invasive prenatal testing (NIPT) has been recognized as a highly accurate and safe screening option for expecting mothers, with its efficacy hinging on awareness, perceptions, and understanding of the test. We
Externí odkaz:
https://doaj.org/article/49e225994227464a89f75276413f9655
Autor:
Chih-Ping Chen
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 3, Pp 293-296 (2024)
Trisomy 7 is the most common observed type of rare autosomal trisomies (RATs) detected at expanded genome-wide non-invasive prenatal testing (NIPT). Genetic counseling of NIPT trisomy 7-positive pregnancies remains to be not easy because the parents
Externí odkaz:
https://doaj.org/article/b2fa8d7a43844ca396f4b9cd8fc20684
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-5 (2024)
Abstract Background Noninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions. This study aimed to investigate the
Externí odkaz:
https://doaj.org/article/884ea0afde174167b2eb654dfe76c28c
Autor:
Amerigo Ferrari, Federico Pennestrì, Manila Bonciani, Giuseppe Banfi, Milena Vainieri, Rossella Tomaiuolo
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology: X, Vol 23, Iss , Pp 100327- (2024)
Introduction: Pregnant women can choose from different prenatal genetic tests throughout their maternity journey. We aim to investigate the clinical, societal, and economic determinants influencing the selection of different options (non-invasive, in
Externí odkaz:
https://doaj.org/article/7bc27c3165534352bede7448f06b1297
Publikováno v:
Heliyon, Vol 10, Iss 16, Pp e35530- (2024)
Background: Deletion mutations have been confirmed to be closely related to the occurrence and progression of different hereditary diseases and tumors. Specifically, the deletion of a small number of bases is more challenging to be captured and diffe
Externí odkaz:
https://doaj.org/article/3c55c4c501504fd8ab36d68c70e4379b
Autor:
AlSudais, Hamood a, ⁎, Alshalani, Abdulrahman a, Alajaji, Sarah b, Alsaadoun, Salma b, Alsaiari, Leyan b, Almuhanna, Yasir c, Asad, Mohammed c, Ghneim, Hazem K. a
Publikováno v:
In Heliyon 30 November 2024 10(22)
Autor:
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 3, Pp 391-393 (2024)
Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome. Case Report: A 26-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of p
Externí odkaz:
https://doaj.org/article/ae59d62ad80543a2a1cb93117be61eea