Why doctors recommend chromosome testing to identify rare chromosomal abnormalities


Chromosomal abnormalities are sometimes chargeable for infertilities, abortions, and infants born with delicate to extreme delivery defects. Dr Vasavi Narayanan, head of Cytogenetics division, Apollo Diagnostics, Pune talked about “there are many rare chromosomal abnormalities in cases referred for infertility or from the pediatrics departments”. Therefore, it is vital to have chromosome testing finished.

“Down syndrome is commonly diagnosed in the clinic in newborns and confirmed by chromosome testing. In addition, there may be rare numerically abnormal variants like the presence of an XXY syndrome along with trisomy 21, which if evaluated properly, can help in appropriate management of these Down’s children. Another such rare finding is the presence of an extra Y chromosome, giving rise to 47, XYY or Jacob syndrome in a male. This abnormality is reported in 1 in 1,000 male births, and we have seen one case in past four years,” she talked about.

What are chromosomal abnormalities?

Normally, a fertilised egg ought to lead to the formation of a foetus with 46 chromosomes that features two intercourse chromosomes – XX for feminine and XY for a male. However, if there may be an additional or lacking chromosome, it’s termed as a numerical abnormality. Apart from this, the chromosome quantity could stay the identical however there could also be structural rearrangements in chromosomes main to loss or acquire of segments – each these conditions could lead to being pregnant loss or delivery of a kid with a defect.

Here’s why chromosome testing is important. (Source: Getty Images/Thinkstock)

Cytogenetic diagnostic assessments can display screen for and likewise give the probabilities for being pregnant loss or the opportunity of an irregular child in potential mother and father. Some of those assessments are invasive for definitive prenatal analysis (in high-risk people) and provides the mother and father the choice to determine about persevering with the being pregnant or put together them for a kid which will require further medical consideration at delivery”, provides Dr Narayanan.

There are different rare structural chromosomal abnormalities just like the presence of a hoop chromosome. This occurs when there may be breakage of the top segments of a chromosome and subsequent rejoining of the sticky ends.

“Ring chromosome 12 is a rare finding and shows a highly variable phenotype, depending on the extent of chromosomal material lost or duplicated during the formation of the abnormal ring structure. These individuals may present with symptoms such as growth retardation, intellectual disability, skeletal defects, and even infertility. In some cases of a ring with negligible loss of chromosomal material, the person barely shows any problems other than infertility. In these cases, a chance of successful pregnancy is better with IVF. Patients presenting with infertilities and multiple abortions should be evaluated for cytogenetic studies to rule out chromosomal causes,” she talked about.

How does chromosomal abnormalities hamper a toddler’s development?

Individuals could have studying disabilities, presenting with dyslexia, acquire irregular peak which can be apparent by the point they’re 6-7 years of age. With respect to rare anomalies associated to the Y chromosome, there could also be fertility points in people displaying chromosome Y inversion, additionally reported in lower than 1 in 1000 male births. Such circumstances may additional be evaluated for Y microdeletion research earlier than referring for IVF, added Dr Narayanan.

So, how does chromosomal testing of embryos assist?

Dr Karishma Dafle, Nova IVF Fertility, Pune defined how chromosomal testing of embryos helps within the detection of abnormalities in sufferers with recurrent being pregnant loss. “Women should get embryos screened after consulting the doctor if all other causes of pregnancy loss have been ruled out. Pre-Implantation Genetic Testing for Monogenic disorders (PGT-M) is a genetic test of embryos that can be accompanied by an IVF cycle to detect single gene defects and reduce the risk of passing on a specific genetic condition which runs in the family to have a successful pregnancy outcome. PGT-A (Pre-implantation genetic testing for Aneuploidy) refers to testing embryos to look for extra or missing chromosomes so that normal embryo can be selected and transferred to give successful pregnancy. It is carried out on cells that are removed from one’s embryos and the best and unaffected embryos are transferred in mothers womb for preventing genetic diseases”.

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