Results 51 to 60 of about 2,588,889 (202)

P3-67 Patient and professional experiences with non-invasive prenatal diagnosis (NIPD) and testing (NIPT): social and ethical issues raised

, 2015
Objectives: The aim of this study is to gain a rich understanding of early experiences with emerging non-invasive prenatal diagnosis (NIPD) and non-invasive prenatal testing (NIPT) testing technologies.
Strange, Heather, Garne, E., Addor, M. C., Pierini, A., Walle, H. E. K., Rissmann, A., Zurriaga, O., Faber, H. H., Lynch, C., Rankin, J., Tucker, D., Groen, H., McDonnell, M., Zymak-Zakutnia, N., Bouman, K., O'Mahony, M., Haeusler, M.   +16 more
core   +1 more source

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

Molecular Cytogenetics, 2021
Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai, Jie Chen   +10 more
doaj   +1 more source

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

, 1992
We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this
Robert W. Huff, Larry J. Shapiro, David P. Bick, Leslie Campbell, Daniel F. Schorderet, Paul A. Price, Charleen M. Moore, Price, P. A., Shapiro, L. J., Campbell, L., Moore, C. M., Bick, D. P., Schorderet, D. F., Huff, R. W.   +13 more
core   +1 more source

Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review

Molecular Cytogenetics, 2021
Background Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic.
Xinyue Zhang, Fagui Yue, Qingyang Shi, Yuting Jiang, Jing He, Leilei Li, Ruizhi Liu   +6 more
doaj   +1 more source

Prenatal diagnosis and postnatal follow-up of congenitally corrected transposition of the great arteries and recurrent supraventricular tachycardia [PDF]

, 2013
The prenatal sonographic diagnosis of congenitally corrected transposition of the great arteries (ccTGA), a rare form of congenital heart disease is very difficult.
Celik, I., Hallioglu, O., Kibar, Ayse E., Erdem, Sukru   +3 more
core  

Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis [PDF]

, 2012
BackgroundAnalysis of cell free fetal (cff) DNA in maternal plasma is used routinely for non invasive prenatal diagnosis (NIPD) of fetal sex determination, fetal rhesus D status and some single gene disorders.
Carolyn L. Dent (135429), Oudejans, Cees, White, Helen E., Hall, Victoria J., Chitty, LS, Carolyn L Dent, John A. Crolla (135433), Lyn S. Chitty (135435), Dent, CL, Victoria J. Hall (135431), John A Crolla, White Helen E., Helen E. White (135428), Crolla, John A., Crolla, JA, Hall, VJ, Dent Carolyn L., Hall Victoria J., Chitty, Lyn S., Chitty Lyn S., Helen E White, Dent, Carolyn L., White, HE, Crolla John A., Lyn S Chitty, Victoria J Hall   +25 more
core   +1 more source

Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Molecular Cytogenetics, 2019
Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to ...
Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

P622: NIPS dilemma in the context of consanguinity: Considerations for counseling

Genetics in Medicine Open, 2023
Noura Osman, Kathryn Rice, Herman Hedriana, Krishna Singh   +3 more
doaj   +1 more source

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

Molecular Cytogenetics
Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD).
Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng   +6 more
doaj   +1 more source

Molecular analysis of a large novel deletion causing α+-thalassemia

BMC Medical Genetics, 2019
Background α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia’s diagnosis and ...
Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan, Yuying Jiang   +10 more
doaj   +1 more source