Results 31 to 40 of about 262,419 (315)

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

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

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

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

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]

, 2017
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda, Bernardo, Silvia, Catalano, Carlo, DE VITO, Corrado, Di Meglio, L, Giancotti, Antonella, Manganaro, Lucia, Marchionni, Enrica, Pizzuti, Antonio, Saldari, Matteo, Silvestri, E, Vinci, Valeria   +11 more
core   +1 more source

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Molecular Cytogenetics, 2020
Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the ...
Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen, Huaxiang Shen   +9 more
doaj   +1 more source

Copy number variations associated with fetal congenital kidney malformations

Molecular Cytogenetics, 2020
Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe.
Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang, Liangpu Xu   +9 more
doaj   +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

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide, A. Khalil, A. Kulkarni, B. Thilaganathan, E. Dempsey, F. G. Sileo, Hutchison AA, I. Branescu, Jauniaux E, Norton ME, S. Mansour, Santolaya J, T. Homfray   +12 more
core   +2 more sources

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations

Genetics Research
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single ...
Zhiwei Wang, Yali Zhao, Shuting Yang, Yongan Wang, Leilei Wang   +4 more
doaj   +1 more source