Results 31 to 40 of about 268,628 (304)

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

Noninvasive prenatal diagnosis

Taiwanese Journal of Obstetrics and Gynecology, 2015
Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required.
Wei-Lun Cheng, Ching-Hua Hsiao, Hua-Wei Tseng, Tai-Ping Lee   +3 more
openaire   +3 more sources

Parental Substance Abuse As an Early Traumatic Event. Preliminary Findings on Neuropsychological and Personality Functioning in Young Drug Addicts Exposed to Drugs Early. [PDF]

, 2016
open5noParental substance use is a major risk factor for child development, heightening the risk of drug problems in adolescence and young adulthood, and exposing offspring to several types of traumatic events.
Afifi, Aharonovich, Alati, Alati, American Psychiatric Association (APA), American Psychiatric Association (APA), Anda, Bada, Baer, Bailey, Baker, Barnard, Barr, Behnke, Bennett, Best, Bhide, Blagov, Blair, Bornovalova, Brand, Brown, Carmody, Chambers, Chapman, Chassin, Chassin, Chen, Cone, Connor, Cooper, Crean, Cruz, Cyr, Daniel, Day, Day, De Palo, Delaney-Black, Dennis, Derogatis, Derogatis, Dikmen, Edwards, Eiden, Eiden, Eiden, Eiden, El-Sheikh, El-Sheikh, Elkins, Engeland, Enoch, Ersche, European Monitoring Centre for Drugs Drug Addiction (EMCDDA), Evans, Eyler, Fals-Stewart, Farah, Farah, Fishbein, Fisher, Fisher, Ford, Frank, Fried, Giancola, Gibb, Glantz, Goldman, Goldschmidt, Goler, Grant, Griffith, Guttmacher Institute, Hackman, Hans, Hanson, Henry, Hicks, Hinrichs, Hurt, Hurt, Hussong, Hussong, Hussong, Jacobson, Jernigan, Johnston, Jutras-Aswad, Kearney, Kerns, Killinger, Kliewer, Klonoff-Cohen, Kodituwakku, Kokkevi, Konijnenberg, Kopera-Frye, Krueger, Langås, Leech, Lester, Lester, Lewis, Lewis, Li, Lingiardi, Lipina, Mackesy-Amiti, Malone, Marin-Avellan, Mattson, Maurage, May, Mayes, Mayes, McClelland, McGue, McNamee, Melchior, Meyers, Mezzacappa, Minnes, Moilanen, Mondini, Mondini, Morgan, Nigg, Noble, Noble, Noland, Noland, O'Brien, O'Connor, Obot, Olson, Olson, Pears, Posner, Prunas, Putnam, Rao, Rasmussen, Rasmussen, Richardson, Richardson, Riley, Rose-Jacobs, Rose-Jacobs, Rosenkranz, Rubes, Samhsa Office of Applied Studies (SAMHSA), Sarno, Savage, Schmid, Shedler, Shedler, Sheinkopf, Singer, Singer, Smith, Solowij, Stocco, Stone, Strathearn, Tapert, Tapert, Taplin, Tarter, Tarter, Thompson, Tonmyr, van der Kolk, Van Voorst, Vaske, Velez, Verdejo-García, Warner, Warner, Westen, Westen, Westen, Westen, Willford, Willford, Woon, Young   +187 more
core   +2 more sources

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

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

Association of prenatal diagnosis of critical congenital heart disease with postnatal brain development and the risk of brain injury [PDF]

, 2016
IMPORTANCE: The relationship of prenatal diagnosis of critical congenital heart disease (CHD) with brain injury and brain development is unknown. Given limited improvement of CHD outcomes with prenatal diagnosis, the effect of prenatal diagnosis on brain
Barkovich, A. James, Campbell, Andrew, Chakkarapani, Elavazhagan, Chau, Vann, De Santiago, Veronica, McQuillen, Patrick, Miller, Steven, Peyvandi, Shabnam, Poskitt, Kenneth J., Xu, Duan   +9 more
core   +2 more sources

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

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit. [PDF]

, 2017
ObjectiveTo evaluate the implementation of early screening for critical congenital heart defects (CCHDs) in the neonatal intensive care unit (NICU) and potential exclusion of sub-populations from universal screening.Study designProspective evaluation of ...
Allen, D, Assing, E, Axelrod, R, Blau, J, Chandra, S, Cohen, M, Fofah, O, Garg, LF, Giuliano, M, Govindaswami, B, Grazel, R, Hassinger, D, Hudome, S, Jegatheesan, P, Koppel, R, Kumar, P, Lakshminrusimha, S, Lohr, J, McClure, D, Spillane, N, Van Naarden Braun, K   +20 more
core   +2 more sources