Clinical application of SNP array analysis in first‐trimester pregnancy loss: A prospective study

Y Wang, Q Cheng, L Meng, C Luo, H Hu… - Clinical …, 2017 - Wiley Online Library
Chromosomal microarray analysis (CMA) has been used routinely in pediatric and prenatal
genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis …

Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life

M Lingen, L Albers, M Borchers, S Haass… - Clinical …, 2016 - Wiley Online Library
Recent progress in genetic testing has facilitated obtaining an etiologic diagnosis in children
with developmental delay/intellectual disability (DD/ID) or multiple congenital anomalies …

[PDF][PDF] Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

JS Lee, H Hwang, SY Kim, KJ Kim… - Annals of laboratory …, 2018 - synapse.koreamed.org
Background: Chromosomal microarray (CMA) testing is a first-tier test for patients with
developmental delay, autism, or congenital anomalies. It increases diagnostic yield for …

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and …

E Di Gregorio, E Riberi, EF Belligni, E Biamino… - Clinical …, 2017 - Wiley Online Library
Background Array‐comparative genomic hybridization (array‐CGH) is a widely used
technique to detect copy number variants (CNVs) associated with developmental …

Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: a case report and literature review

F Yue, Y Jiang, Y Yu, X Yang, H Zhang, R Liu, R Wang - Medicine, 2018 - journals.lww.com
Interventions: The couple finally chose to terminate the pregnancy based on the ultrasonic
multiple malformations and the abnormal SNP array results. Outcomes: The …

Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

M Plesser Duvdevani, M Pettersson… - American Journal of …, 2020 - Wiley Online Library
Clinical laboratory diagnostic evaluation of the genomes of children with suspected genetic
disorders, including chromosomal microarray and exome sequencing, cannot detect copy …

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and …

M Wayhelova, J Smetana, V Vallova, E Hladilkova… - BMC Medical …, 2019 - Springer
Background Chromosomal microarray analysis has been shown to be a valuable and cost
effective assay for elucidating copy number variants (CNVs) in children with intellectual …

Copy number variants prioritization after array-CGH analysis–a cohort of 1000 patients

IM Carreira, SI Ferreira, E Matoso, LM Pires… - Molecular …, 2015 - Springer
Background Array-based comparative genomic hybridization has been assumed to be the
first genetic test offered to detect genomic imbalances in patients with unexplained …

Chromosomal microarray analysis in fetuses with central nervous system anomalies: an 8‐year long observational study from a tertiary care university hospital

M Santirocco, A Plaja, C Rodó, I Valenzuela… - Prenatal …, 2021 - Wiley Online Library
OBJECTIVES To evaluate the prevalence of DNA copy number variants (CNVs) detected
with array comparative genomic hybridization (CGH) in fetuses with central nervous system …

Association between fetal chromosomal abnormalities and the frequency of spontaneous abortions

L Yang, T Tao, X Zhao, H Tao, J Su… - Experimental and …, 2020 - spandidos-publications.com
Fetal chromosomal abnormalities are a common cause of spontaneous abortion. The
present study investigated the association between fetal chromosomal abnormalities and …