Results 41 to 50 of about 4,251,743 (354)

Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

Molecular Genetics & Genomic Medicine, 2022
Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability.
Li‐min Cui, Jian‐ye Jiang, Ning‐ning Hu, Hong‐en Zou, Bao‐zhen Zhao, Cong‐ying Han, Kai Yang, Yi‐peng Wang, Huan‐xia Xing   +8 more
doaj   +1 more source

Decision-making and ante-natal screening for sickle cell and thalassaemia disorders : To what extent do faith and religious identity mediate choice? [PDF]

, 2008
When making decisions about prenatal diagnosis, couples not only draw on their understanding of the condition but also broader aspects of their cultural identity.
Ahmed, Shenaz, Atkin, Karl, Green, Josephine M., Hewison, Jenny   +3 more
core   +1 more source

C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis

Molecular Cytogenetics, 2019
Background In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms.
Jian Jiang Zhu, Hong Qi, Li Rong Cai, Xiao Hui Wen, Wen Zeng, Guo Dong Tang, Yao Luo, Ran Meng, Xue Qun Mao, Shao Qin Zhang   +9 more
doaj   +1 more source

Sonographic evaluation of fetal scrotum, testes and epididymis [PDF]

Obstetrics & Gynecology Science, 2021
External male genitalia have rarely been evaluated on fetal ultrasound. Apart from visualization of the penis for fetal sex determination, there are no specific instructions or recommendations from scientific societies.
Álvaro López Soto, Jose Luis Meseguer González, María Velasco Martínez, Rocío López Pérez, Inmaculada Martínez Rivero, Mónica Lorente Fernández, Olivia García Izquierdo, Juan Pedro Martínez Cendán   +7 more
doaj   +1 more source

Le diagnostic anténatal modifie-t-il la prise en charge néonatale et le devenir à 1 an des enfants suivis pour atrésie de l’œsophage de type III ? [PDF]

, 2015
OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III. STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008 to 2010.
A. Bonnard, A. Breton, A. Echaieb, C. Borderon, C. Garabedian, C. Langlois, C. Laplace, C. Pelatan, C. Piolat, D. Aubert, D. Weil, E. Habonimana, E. Sapin, F. Auber, F. Becmeur, F. Elbaz, F. Gottrand, F. Lavrand, G. Podevin, H. Allal, H. Lardy, J. Breaud, J. Gaudin, J.L. Lemelle, J.L. Michel, L. Fourcade, L. Michaud, M. Lopez, M. Pouzac-Arnould, M.Laurence Polimerol, N. Khen-Dunlop, O. Jaby, P. Buisson, P. de Vries, P. Delagausie, R. Sfeir, S. Geiss, T. Gelas, T. Merrot, T. Petit, V. Fouquet, V. Houfflin-Debarge   +41 more
core   +4 more sources

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BMC Medical Genomics, 2020
Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13).
Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi   +5 more
doaj   +1 more source

Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study. [PDF]

, 2017
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS.
Ding, Jie, Jiang, Tao, Wang, Ting, Yu, Bin, Zhang, Bin, Zhang, Xiao-Juan, Zhang, Xiao-Qing   +6 more
core   +1 more source

Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]

, 2019
Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya), Makukh, H. (Halyna), Prokopchuk, N. (Natalia), Sharhorodska, Y. (Yevheniya)   +3 more
core   +3 more sources

Noninvasive prenatal diagnosis

Taiwanese Journal of Obstetrics and Gynecology, 2015
Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required.
Wei-Lun Cheng, Ching-Hua Hsiao, Hua-Wei Tseng, Tai-Ping Lee   +3 more
openaire   +3 more sources

Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis

bioRxiv, 2019
Background Increased Nuchal Translucency (NT) is an important biomarker associated with increased risk of fetal structural anomalies. It is known to be contributed by a wide range of genetic etiologies from single nucleotide variants to those affecting ...
K. Choy, Huilin Wang, Mengmeng Shi, Jingsi Chen, Zhenjun Yang, Rui Zhang, Huanchen Yan, Yanfang Wang, Shaoyun Chen, Matthew Hoi Kin Chau, Ye Cao, O. Chan, Y. K. Kwok, Yuanfang Zhu, Min Chen, T. Leung, Z. Dong   +16 more
semanticscholar   +1 more source