Results 91 to 100 of about 189,771 (305)

Prenatal screening methods for aneuploidies

North American Journal of Medical Sciences, 2013
Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added.
Dey, Madhusudan, Sharma, Sumedha, Aggarwal, Sumita   +2 more
openaire   +3 more sources

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Prediction values of fat-soluble vitamin of growth retardation in children aged 1–6 years

Frontiers in Pediatrics
BackgroundRetardation among children is a persistent global health concern. Vitamin deficiency in childhood may contribute to growth retardation; however, its causal effects are not fully understood.ObjectiveHere, we aimed to explore the prediction ...
Qingqing Yan, Qingwen Zhu, Chen Jiang, Lingli Zhang, Xiaojing Xu   +4 more
doaj   +1 more source

Prenatal diagnostic testing and Down syndrome in Victoria 1992–2002

Australian and New Zealand Journal of Public Health, 2004
Objective:To describe patterns of uptake of prenatal diagnostic testing and prenatal detection rates for Down syndrome in Victoria with regard to mater nal age and prenatal screening practices.
Evelyne E. Muggli, Jane L. Halliday
doaj   +1 more source

Inescapable Decisions [PDF]

, 2006
The main ethical principle in prenatal testing is the autonomous decision of the pregnant woman concerned. However, recent developments in prenatal testing undermine this model.
Wieser, Bernhard
core  

Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]

, 2013
Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Incorporating DNA Sequencing into Current Prenatal Screening Practice for Down's Syndrome [PDF]

, 2013
PMCID: PMC3604109This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
AB Sparks, B Zimmerman, Cees Oudejans, DW Bianchi, GE Palomaki, J Morris, JK Morris, JK Morris, JK Morris, Jonathan P. Bestwick, KH Nicolaides, Nicholas J. Wald, NJ Wald, NJ Wald, NJ Wald, RWK Chiu, S Dan   +16 more
core   +3 more sources