This is an automatically translated article.
The article was written by Doctor Bui Thi Phuong Hoa - Genetic consultant doctor - Vinmec Hi-tech Center.
Microarray technique (also known as CMA) detects structural chromosomal abnormalities, usually indicated for prenatal testing and at any time postpartum if appropriate.
1.Advantages of microarray in postpartum diagnosis
Chromosome testing (CMA) looks for extra (repeated) or missing (deleted) chromosome segments, sometimes called copy number variants (CNV). Includes:
Chromosomal microsegmentation and microsegmentation, which are too small to be seen under a conventional microscope (undetectable by classical chromosomal assays) but may contain many genes ( see illustration above) Most chromosome number abnormalities (trisomy, monosomy, etc.); including Down syndrome. Most chromosomal unbalanced reconstructions (translocations, etc.) Genome-wide microarray (CMA) detects pathogenic copy number variants (pathogenic CNV) in 15-20% of patients growth retardation, intellectual disability or congenital abnormalities. CMA can also detect copy number variations of unknown clinical significance, in which cases additional testing may be required for parents to obtain additional information to support interpretation of the results. CMA can also detect pathological copy number variations unrelated to the phenotype being expressed (random finding).
2. Microarray indication in postpartum diagnosis
Trẻ chậm phát triển được chỉ định với Microarray
Children with developmental delays or learning difficulties with or without morphological abnormalities. Infants or children with many congenital abnormalities. Children with epilepsy or neurological disorders.
3. Microarray application in postpartum diagnosis
In 2010, ACMG (American College of Medical Genetics and Genomics) recommended CMA as the first-line test for patients with developmental delay, intellectual impairment, autism spectrum, and multiple birth defects.
CMA is diagnostic in up to 10-15% of these patients, significantly better than ~3% efficiency with traditional chromosomal analysis (chromosomal formula - karyotype). CMA can also detect most chromosomal abnormalities detected by standard karyotypes.
CMA may be useful when other tests are inconclusive, when the patient has an abnormal diagnosis, or when multiple abnormalities with overlapping features.
Because this is a complicated test, patients need genetic counseling before testing and should choose large, reputable hospitals and medical facilities.
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Applications of microarray CGH in prenatal diagnosis Microarray technique: Benefits, limitations and applications after birth Prenatal genetic screening: What you need to know
