Results 21 to 30 of about 146,711 (318)

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

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

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 Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series

, 2022
Objectives To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging. Methods Based on a retrospective international series of Aicardi syndrome cases from tertiary centers encountered over a 20-year ...
Yvan Vial, Klaritsch, Philipp, Prayer, Florian, Baud, D., Sebastián Gacio, Gacio, S., Bromley, Bryann, Haratz, Karina, Haratz, K., Ochoa, José, Van Mieghem, Tim, Galmiche, A., Van Mieghem, T., Karina Haratz, Huisman, TAGM, Dario Paladini, Sara Cabet, Galmiche, Aurore, Malinger, G., Cabet, S., Philipp Klaritsch, Cabet, Sara, Paladini, D., Malinger, Gustavo, Vial, Y., Gacio, Sebastián, Dubruc, E., Pomar, Léo, Dubruc, Estelle, Florian Prayer, Guibaud, L., Huisman, Thierry A. G. M., David Baud, Ochoa, J., Aurore Galmiche, Laurent Guibaud, Thierry A. G. M. Huisman, Estelle Dubruc, Gustavo Malinger, Pomar, L., Klaritsch, P., Bromley, B., José Ochoa, Bryann Bromley, Lebon, S., Paladini, Dario, Prayer, F., Guibaud, Laurent, Baud, David, Sébastien Lebon, Vial, Yvan, Tim Van Mieghem, Léo Pomar, Lebon, Sébastien   +53 more
core   +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

Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases

, 2021
Bulleted Statements: What's already known about this topic? The incidence of discordant fetal sex was estimated to be 1 in 1500-2000. Comprehensive evaluation is required to investigate the underlying cause. What does this study add?
Ma, TWL, Li, EYY, Chan, KYK, Man, E, Kong, MCW, Yu, FNY, Chung, BHY, Kan, ASY   +7 more
core   +1 more source

Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities [PDF]

, 2023
Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal.
Luk, HM, Hui, PW, Lau, EYT, Mok, YK, Au, SLK, Chung, B, Kan, ASY   +6 more
core   +1 more source

The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology (SIGO) [PDF]

The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology ...
Elvira Di Pasquo, Working Group on Non-invasive Prenatal Diagnosis, Chiara Formigoni, Marco De Santis, Working Group on Invasive Prenatal Diagnosis, Working Group Secretariat, Tiziana Frusca, Maurizio Guido, Tamara Stampalija, Moira Barbieri, Panel of Experts Delegated by Scientific Societies and Stakeholders, Promoting Committee, External Auditors, Tullio Ghi, Enrico M Ferrazzi, M Morlando, Chair and Methodological Group   +16 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

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