Results 21 to 30 of about 3,897,220 (150)

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

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

Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome‐wide sequencing for fetal diagnosis

Prenatal Diagnosis, 2018
*Correspondence to: International Society for Prenatal Diagnosis. Email: info@ispdhome.org This is an ISPD Position Statement that has not undergone peer review by this journal.

semanticscholar   +1 more source

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

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

FIGO consensus guidelines on placenta accreta spectrum disorders: Prenatal diagnosis and screening ,

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics, 2018
Recent population studies have shown that placenta accreta spectrum (PAS) disorders remain undiagnosed before delivery in half to two-thirds of cases. In a series from specialist diagnostic units in the USA, around onethird of cases of PAS disorders were
E. Jauniaux, A. Bhide, A. Kennedy, P. Woodward, C. Hubinont, S. Collins   +5 more
semanticscholar   +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

Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice

Prenatal Diagnosis, 2018
The identification of cell‐free fetal DNA circulating in maternal blood combined with technological developments, in particular next‐generation sequencing, is enabling the development of safer prenatal diagnosis.
L. Jenkins, Z. Deans, C. Lewis, S. Allen
semanticscholar   +1 more source

Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2

Frontiers in Genetics, 2021
Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in FKBP10 and PLOD2 genes, respectively.
Jing Zhang, Huaying Hu, Huaying Hu, Weihong Mu, Mei Yu, Wenqi Chen, Dongqing Mi, Kai Yang, Qing Guo   +8 more
doaj   +1 more source

ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?

Prenatal Diagnosis, 2018
The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal‐Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with 1 or more fetal structural abnormalities.
Sara B Hay, T. Sahoo, Mary K. Travis, K. Hovanes, N. Dzidic, Charles Doherty, M. Strecker   +6 more
semanticscholar   +1 more source