Results 191 to 200 of about 113,215 (275)

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder. [PDF]

Mol Genet Genomic Med, 2023
Cucinotta F, Lintas C, Tomaiuolo P, Baccarin M, Picinelli C, Castronovo P, Sacco R, Piras IS, Turriziani L, Ricciardello A, Scattoni ML, Persico AM.   +11 more
europepmc   +1 more source

The Prediction of Pre‐Eclampsia Using Low Fetal Fraction in a Machine Learning Model

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the association between low fetal fraction (FF) in non‐invasive prenatal testing (NIPT) and pregnancy complications or adverse pregnancy outcomes. Methods Sixty‐four pregnant women undergoing NIPT at the Second Affiliated Hospital of Wenzhou Medical University between 13 June 2019 and 6 January 2023 had an initial NIPT
Jinyuan Wang, Yuxiao Bai, Shengshan Huang, Yao Lin, Songdao Ye, Wangxiao Zhou, Shanshan Li, Ni Li, Minghua Jiang, Xiaoou Wang   +9 more
wiley   +1 more source

Chromosomal microarray analysis in the investigation of structural genomic alterations in autism spectrum disorder - TEA

, 2017
Gustavo Brandão Soares do Nascimento
openalex   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low-Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis. [PDF]

Prenat Diagn
Yin Y, He Y, Chen C, He Y, Wang J, Qin S, Wang H, Ma K, Hu D, Xiao R, Wang G, Wang X.   +11 more
europepmc   +1 more source

P16.01: The value of prenatal chromosomal microarray analysis in fetuses with structural ultrasound abnormalities and a normal karyotype in China [PDF]

, 2017
Qingqing Wu, Yan Pei, L. Wang, Jie Xu, Yong Liu, Lizhong Sun, J. Wang   +6 more
openalex   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases. [PDF]

Mol Syndromol
Esener Z, Ates K, Ozturk M, Karakurt C, Elkiran O, Tekedereli I.   +5 more
europepmc   +1 more source

Interpreting Discordant Monosomy 3 FISH and Chromosomal Microarray Analysis Results in Uveal Melanoma. [PDF]

Diagnostics (Basel), 2023
Long CP, Coley N, Thorson J, Lin JH.
europepmc   +1 more source

Prenatal Utility of Chromosomal Microarray Analysis and Pregnancy Outcomes ： A Cohort Study of 4211 Pregnancies [PDF]

Huafeng Li, Juan Hu, Qingyu Wu, Jigang Qiu, Li Zhang, Jinping Zhu   +5 more
openalex   +1 more source