Results 81 to 90 of about 22,195,386 (187)

The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results

International Journal of Genomics, 2020
Objective. To retrospectively analyze the results of prenatal diagnoses of noninvasive prenatal screening- (NIPS) positive pregnant women and discuss whether there is a need for chromosomal microarray analysis (CMA). Methods.
Jun Xu, Ying Xue, Jing Wang, Qin Zhou, Bin Zhang, Bin Yu, Ting Wang   +6 more
doaj   +1 more source

Effectiveness of Recombinant Human Growth Hormone Therapy in Small‐for‐Gestational‐Age Children With Short Stature: A Stratified Analysis Based on Genetic Variant Status

Clinical Endocrinology, EarlyView.
ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park, Yena Lee, Hwal Rim Jeong, Eun Young Kim, Eu‐seon Noh, Hye young Jin, Eun Byul Kwon, Hye Jin Lee, Young‐Jun Seo, Young Suk Shim, Su Jin Kim, Ji‐Eun Lee, Nan Young Kim, Sangkyoon Hong, Min Jae Kang, Il Tae Hwang   +15 more
wiley   +1 more source

CGHpower: exploring sample size calculations for chromosomal copy number experiments [PDF]

, 2010
Background Determining a suitable sample size is an important step in the planning of microarray experiments. Increasing the number of arrays gives more statistical power, but adds to the total cost of the experiment.
Scheinin, A.I., Ferreira, J.A., Mark A van de Wiel, Scheinin Ilari, Gerrit A Meijer, Bauke Ylstra, Ylstra Bauke, Ilari Scheinin, Knuutila, Sakari, Ferreira, Jose A., José A Ferreira, Knuutila Sakari, Scheinin, Ilari, Knuutila, S., van de Wiel, Mark A., Wiel, M.A. van de, Sakari Knuutila, Ferreira José A, Ylstra, Bauke, Meijer Gerrit A, Meijer, Gerrit A., Ylstra, B., Meijer, G.A., van de Wiel, M.A., van de Wiel Mark A   +24 more
core   +3 more sources

The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities

BMC Pregnancy and Childbirth
Background Chromosomal microarray analysis (CMA) has emerged as a critical instrument in prenatal diagnostic procedures, notably in assessing congenital heart diseases (CHD).
Fenglei Ye, Xiayuan Xu, Yi Wang, Lifang Chen, Qunda Shan, Qijing Wang, Fan Jin   +6 more
doaj   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Table_1_Should prenatal chromosomal microarray analysis be offered for isolated ventricular septal defect? A single-center retrospective study from China.docx

, 2022
ObjectiveTo evaluate the utility of chromosomal microarray analysis (CMA) in fetuses with isolated ventricular septal defect (VSD) and to explore the favorable factors for predicting spontaneous closure of defects.MethodsThe study included 436 singleton ...
Fang Fu (507742), Fucheng Li (123888), Hang Zhou (230977), You Wang (312086), Ken Cheng (3559961), Tingying Lei (13738255), Dongzhi Li (1506622), Ru Li (109562), Xin Yang (104842), Ruibin Huang (10054221), Can Liao (6824936)   +10 more
core   +1 more source

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

Prenatal Diagnosis, EarlyView.
Zandra C. Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina‐Marié Wessels, Francesca Forzano, Natalie J. Chandler   +18 more
wiley   +1 more source