Results 31 to 40 of about 2,435,290 (202)

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Prenatal diagnosis for paediatricians [PDF]

Paediatrics & Child Health, 2003
In Ontario, approximately 140,000 women deliver newborn infants each year. Of these women, 60,000 to 70,000 have multiple marker screening, 10,000 undergo amniocentesis or chorion villus sampling and virtually all have at least one prenatal ultrasound.
openaire   +2 more sources

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

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

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 Iniencephaly

Taiwanese Journal of Obstetrics and Gynecology, 2007
Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; significant shortening of the spinal column due to marked ...
openaire   +3 more sources

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

BMC Medical Genomics, 2021
Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown.
Meiying Cai, Na Lin, Xuemei Chen, Meimei Fu, Nan Guo, Liangpu Xu, Hailong Huang   +6 more
doaj   +1 more source

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

Molecular Cytogenetics, 2021
Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions.
Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai, Jie Chen   +10 more
doaj   +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 detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review

Molecular Cytogenetics, 2021
Background Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic.
Xinyue Zhang, Fagui Yue, Qingyang Shi, Yuting Jiang, Jing He, Leilei Li, Ruizhi Liu   +6 more
doaj   +1 more source