It is a crucial prenatal screening test to determine the presence or absence of chromosomal aberration in the growing fetus. The presence of such chromosomal abnormality in the mother or the fetus is one of the most common causes for recurrent miscarriages in a woman.
The high-resolution technology helps in screening for microdeletion or addition also called copy number variants in the chromosome. It is a highly sensitive test that helps in detecting Down Syndrome, Edwards Syndrome, Patau Syndrome etc. in the growing fetus during the first trimester.
Chromosomal Microarray – An Early Diagnosis for Potential Genetic Syndrome
The cytogenetic microarray testing helps in providing information on the chromosomal part of the cell and hence helps with the diagnosis of different genetic disease. It is recommended prenatal testing for a couple who are carriers of chromosome aberration or mutation. The screening technique help in even identifying micro-changes in the gene that might impact the child’s normal growth and development, intellectual ability and cause other genetic symptoms.
The cytogenetic microarray analysis is conducted using the maternal blood sample from the first trimester for prenatal analysis. The sample is subjected to Microarray which is a microchip-based testing platform. The technology helps with high volume and automated analysis of multiple pieces of DNA simultaneously. The probes or labels are used to bind to specific chromosome regions. The genetic material is compared to the reference sample to check for chromosomal aberrations.
Benefiting the Patients from the CNV testing by microarray
The microarray analysis is a high-resolution genomic test that helps with identifying small gains and losses within chromosomal sequences called copy number variants. It is an advanced technology as compared to traditional karyotyping due to the accuracy of the results.
- It helps in identifying the root cause of developmental delays or intellectual impairment in children like autism spectrum disorder, multiple congenital anomalies etc.
- Prenatal analysis helps in the early detection of chromosome abnormality in the fetus. This helps the parents to make an informed decision.
- Chromosome abnormality can lead to recurrent pregnancy loss and hence getting the diagnosis can help in better family planning.
- Cytogenetic microarray help understand various conditions like unexplained seizure disorder, psychiatric disorders, or neuromuscular conditions clearly.
The availability of the screening technology across multiple diagnostic labs has reduced the Microarray test price. It provides early detection and preventive measures for individuals diagnosed with chromosomal aberrations.
Genetic Counselling and Chromosomal microarray test cost in India
It is highly recommended to take genetic counselling from an experienced and certified genetic counsellor before the test to understand the procedure better. The microarray testing cost varies from Rs 18,000 to 30,000 based on the diagnostic lab location. In case the test results are positive, further thorough post genetic counselling is provided for deciding on personalized treatment. For prenatal analysis, positive tests indicate the possibility of the genetic syndrome in the fetus. Additional tests and screening help in confirming the same for the couple to make the right decision.
