Karyotyping

Karyotype refers to the complete set of the chromosome in an individual. The test that determines the total number and the growth or structure is called as Karyotyping. So anything that refers to Karyotyping is nothing but the evaluation of the size, shape and the number of chromosomes in an individual.

What is Karyotyping?

This test is often associated with many bodily disorders and mainly the infertility issues. Karyotyping is a test that is done to understand the chromosomal pattern of an individual. Be it a male or a female, the chromosomal build up varies from one person to the other. With the help of this test, it is easy to understand the chromosomes and it also gives a proper insight to the specific chromosomes that might be the reason for his/her infertility. This test throws light on the extra or the missing chromosomes that are present in the body, thereby indicating the spot where the problem might exist. Such types of extra or missing chromosomes may cause developmental issues. Sexual health of a male is often unnoticed as the concentration is given on the female reproductive ability. Sometimes patients have a history of genetic disorders that might be the reason for their infertility. Karyotyping is done to find out about the chromosome level problem in the individual.

How does Karyotyping work?

Karyotyping is usually done by cytogeneticists who are trained specialists in the study of chromosomes. The cells will be isolated from the blood sample for analysis, grown in a special media under suitable environment and stained to see under the microscope so that the chromosomes can be arranged into a Karyotype and then analyzed by the cytogeneticist. These processes take about one to two weeks in the laboratory. This test can be done with any cell or tissue from the body. When the test is done on a male, the blood from the vein is collected and processed to understand the chromosomes. This test is also done on pregnant females to identify the genetic structure of the fetus. For such fetal chromosome testing, the amniotic fluid is extracted and used for testing.

Who is this test for?

As mentioned earlier this test is for individuals who may have a predisposition to a genetic disorder or condition.  When it comes to the reproductive health of a couple, infertility is a big problem. Karyotyping is one such test that helps to identify the root cause of this infertility crisis. Couples face problems when they have a healthy sexual life and a healthy body but are unable to conceive a child. Couples often succeed in becoming pregnant but the pregnancy soon ends in a miscarriage. This problem is faced by many couples and after repeated attempts; they conceive but fail to carry forward with their pregnancy even after healthy practices, for reasons unknown. This might be due to the genetic disorders in either of the couple; this genetic disorder might be identified using the Karyotyping.

Male reproductive health also has a major part to play in such infertility cases. In men with infertility, the chances for a successful genetic testing will be as high as 15%. If the patients have certain conditions like Oligospermia and Azoospermia, physical features like small testicles or undescended testes, several miscarriages, the fertility specialist or doctor may recommend genetic testing.

In about 2-4% of couples, who have several miscarriages/unexplained fertility one among the couple will have a “BALANCED TRANSLOCATION” which means difference in chromosomal set-up that does not cause any health problems, but it may lead to miscarriage, infertility or having a child with developmental difficulties or mental retardation.

Benefits of Karyotyping

Karyotyping is the apt test when it comes to detecting the hereditary disorders in a patient. When the Karyotyping is done, the chromosomal make-up of that individual is laid down very clearly, giving the geneticists an opportunity, to analyze the depth of the male reproductive health. This test also gives the answer for many inherited health problems that might pass on from the father to the next generation. It is always advisable to consult your doctor and a genetic specialist after knowing the results as this might reveal the consequence and the further treatment options to address the patient’s reproductive inability and other serious chromosomal health defects. This test also helps in understanding and identifying the developmental difficulties of the fetus even before it is born.

Results of Karyotyping

After a Karyotyping is performed, the doctors may advise some other specific tests that need to be done to identify the issue. A Karyotyping test will reveal any normal or abnormal chromosomal condition.