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Genetic/Chromosomal abnormalities

Chromosomal Abnormalities

The condition of a chromosomal abnormality, disorder, anomaly, or mutation is a missing, irregular part of chromosomal DNA is known as the Genetic/ Chromosomal abnormality.

This issue can arise due to a typical number of chromosomes or structural abnormality in one or more than one chromosomes.

Chromosome anomalies usually occur when there is a genetic error in cell division following the process of meiosis or mitosis. There are many types of chromosome anomalies can be classified as numerical and structural anomalies.

Chromosomal Abnormalities Test in pune

Chromosome abnormalities in pregnancy

Chromosome abnormalities of the developing fetus are not common, expecting couples prefer to be cautious about it. At Ssmile multiple tests are available to for screening and diagnosing these abnormalities at an early Pregnancy stage.


These are thread-like structures within the nucleus that is the central part of the living cells. They are composed of DNA and thus are the physical form in which our genes are present.


A gene can be as a piece of genetic information that has the instructions important for a specific function of a cell or for cell processes for the purpose of manufacturing a particular protein.

Chromosome abnormalities

Abnormalities might include the chromosomes themselves or just one or more genes. Mostly, gene abnormalities do not cause an abnormality in the fetus unless an abnormal gene is inherited from both parents.
Some of the many issues caused by Genetic/ Chromosomal abnormalities are as follows:

Down's syndrome

The widely known type of chromosome abnormality is Down's syndrome. It leads to low IQ and distinct bodily features such as short limbs and characteristic issues like wrinkle around the eyes. Heart problems are also common in these cases from birth.

Other Syndromes

These include Patau's syndrome or Edward's syndrome rarely seen in some children
Turner's syndrome is seen in girl child. These girls are short and cannot have children because their underdeveloped ovaries. Their mental development is normal, but it has been found that they commonly have some heart defects.

Molar pregnancy

It is an abnormal composition of chromosomes and does not continue to develop in a normal manner. Partial molar pregnancies develop an embryo that discontinues developing.

Screening tests

We at Ssmile, Pune recommend and provide relevant Chromosomal Abnormalities screening test to examine whether you are having a healthy baby in your womb and then according to take measures. Chromosomal Abnormalities tests indicate whether an abnormality is possible, without any risk to the developing fetus.
One of these tests is serum screening. As per the results, if you have a low risk then nothing further is usually necessary. But this might differ from case to case and accordingly, our Fertility Specialist will guide you. If your test shows that is high at risk then you will be offered an amniocentesis test. A high-risk result does not indicate that the baby is affected; it just suggests that you might need to have a pregnancy diagnostic test.


Amniocentesis is a process which analyses a sample of the fluid that surrounds the fetus in the womb the amniotic fluid. Ultrasound is used to guide the way for these procedures.

Depending on the nature of the abnormality, relevant and the most righteous decision will be taken by the doctors for your benefit.

Chromosome abnormalities are more common than known. However, these issues can be tackled with the righteous solution at Ssmile in maharshtra, india as we aid you with our best team of doctors, medical staff, and best services.


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