Chromosome Blood Test During Pregnancy

Chromosomal Microarray – A Non-Invasive Technique for Identifying Chromosomal Aberrations in Fetus

Advanced technology has made it possible to screen the genetic sequence for the presence of any mutation and variation. With the growing awareness of genetic testing and its widespread benefits, it helps in screening for the presence of chromosomal aberrations and detecting the presence of any underlying genetic conditions. The cost of microarray genetic testing in India is affordable and readily available across all the genetic diagnostics labs in the country.

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All about Cytogenetic microarray analysis and genetic screening 

It is a high-resolution screening technique that helps in assessing for the presence of chromosomal aberrations in the chromosome sequence. It helps in the accurate detection of chromosomal aberrations like deletion or addition of a chromosome segment also called copy number variants.

It helps with prenatal screening and hence provides an early diagnosis of any potential aberrations. Early detection, helps the doctors to provide the right treatment or advice to the individual. If anyone of the parents has certain chromosomal aberrations, it is likely to be inherited by the offspring. Hence, the cytogenetic microarray is of significant importance for the prenatal analysis of the predisposition of a possible genetic disorder in the developing fetus.

The benefit of Microarray testing in Pregnancy

The cytogenic microarray testing during pregnancy helps in detecting if there is any chromosomal aberration in the fetus. The gain or loss of a chromosome in the growing fetus can lead to genetic disorder or disease, delayed development, intellectual disabilities, or recurrent miscarriages.

The test is done by extracting a blood cell from the pregnant mother and is a type of non-invasive method. During the first trimester, the cell-free DNA circulates from the fetus into the maternal blood. The cf DNA is extracted from the blood and microarray is conducted to detect the presence of chromosomal aberrations and hence the probability of related genetic disorder.

  • The microarray analysis helps in screening for microdeletion and microduplication of chromosomal segments which can result in genetic conditions.
  • During the first trimester, it helps in detecting chromosomal abnormalities like trisomy, monosomy etc. It gives accurate screening for Down Syndrome (Trisomy 21), Patau Syndrome (Trisomy 13), Edward’s Syndrome (Trisomy 18) etc.
  • Unbalance rearrangements of chromosomes like Translocations.

The cost of chromosomal microarray analysis has become affordable and hence helps parents make the right decision early on in case the fetus is tested positive for chromosome abnormalities which can lead to a genetic syndrome.

The limitations of chromosomal microarray analysis are it cannot detect all genetic conditions and does not confirm the future occurrence of genetic conditions 100%. It cannot detect point mutations or small changes in a single gene or balanced chromosomal rearrangement. It is not recommended for detecting excessive homozygosity.

Microarray testing cost and Counselling 

The chromosomal microarray test cost in Delhi varies from Rs 22,000 to Rs 30,000 and is available in all the leading genetic testing labs. The genetic labs provide pre and post-genetic counselling to help explain the procedure and impact of the result. The pre-counselling by a certified counsellor helps in understanding the procedure. Post-genetic counselling is crucial in case the result has turned positive. This helps the couple to make an informed decision and the potential risk associated with the genetic abnormalities in the future.