Results 11 to 20 of about 146,711 (318)

Noninvasive prenatal diagnosis of fetal RhD status using cell-free fetal DNA in maternal plasma with TaqMan® real-time PCR assay [PDF]

, 2007
Prenatal diagnosis is now part of established obstetric practice in many countries. However, conventional methods of prenatal diagnosis of obtaining fetal tissues for genetic analysis, including amniocentesis and chorionic villus sampling, are invasive
Rekhviashvili, Tea
core   +1 more source

De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation

Molecular Cytogenetics, 2021
Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang, Jianjiang Zhu, Hong Qi, Limei Xu, Lirong Cai, Ran Meng   +5 more
doaj   +1 more source

A case of placental trisomy 18 mosaicism causing a false negative NIPT result

Molecular Cytogenetics, 2017
Background The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a ...
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin OY, Aihua Yin   +7 more
doaj   +1 more source

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

Human Genomics, 2019
Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between ...
Yiming Qi, Jiexia Yang, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, Qianyi Du, Aihua Yin   +7 more
doaj   +1 more source

Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array

Molecular Cytogenetics, 2020
Background Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and explored the molecular characteristics
Lili Zhou, Zhaoke Zheng, Lianpeng Wu, Chenyang Xu, Hao Wu, Xueqin Xu, Shaohua Tang   +6 more
doaj   +1 more source

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

BMC Cardiovascular Disorders, 2020
Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of ...
Jia Chen, Huizhen Yuan, Kang Xie, Xinrong Wang, Linglong Tan, Yongyi Zou, Yan Yang, Lu Pan, Junfang Xiao, Ge Chen, Yanqiu Liu   +10 more
doaj   +1 more source

Identification and verification of potential biomarkers in sertoli cell-only syndrome via bioinformatics analysis

Scientific Reports, 2023
Sertoli cell-only syndrome (SCOS), a severe testicular spermatogenic failure, is characterized by total absence of male germ cells. To better expand the understanding of the potential molecular mechanisms of SCOS, we used microarray datasets from the ...
Yuting Jiang, Xiao Yang, Linlin Li, Xin Lv, Ruixue Wang, Hongguo Zhang, Ruizhi Liu   +6 more
doaj   +1 more source

Prenatal diagnosis of cystinosis [PDF]

The Journal of Pediatrics, 1975
Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 35SL-cystine retention was measured. As a result of the above finding, the pregnancy was terminated by administration of prostaglandin.
States, Beatrice, Blazer, Bonnie, Harris, Dorothy, Segal, Stanton   +3 more
openaire   +2 more sources

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

Molecular Cytogenetics, 2019
Background Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line.
Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li, Aihua Yin   +9 more
doaj   +1 more source

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