Detection of genetic aberrations in prenatal samples, obtained through amniocentesis or chorion villus biopsy, is increasingly performed using chromosomal microarray (CMA), a technique that can ...

Objective To determine the yield of genetic diagnoses using chromosomal microarray (CMA) and trio whole exome sequencing (WES), separately and combined, among patients with cryptogenic cerebral palsy ...

Recent research has focused on improving screening methods, including the use of advanced technologies like chromosomal microarray analysis (CMA) and the combination of ultrasound and serum ...

2 West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK Background Identification of CNVs through ...

With the ability to detect copy number variations (CNVs), polyploidy, uniparental disomy and maternal cell contamination, SNP-based chromosomal microarray analysis (CMA) is showing the unique ...

Advances in genetic testing, including chromosomal microarray (CMA) and exome sequencing (ES), have improved diagnostic rates ...

I participated in the development and early implementation of chromosomal microarray analysis (CMA) for prenatal diagnosis and in the earliest studies on exome sequencing for prenatal diagnosis. Today ...