Loving couple would look forward to having their own child. To have their own child always means to have a smaller version of themselves which often be seen as adorable indeed. However, not every couple is lucky enough to bear their own child and some may even need to take extra steps or cost to have a successful and safe pregnancy. Often so, these couples or partners would ask a doctor what can be done to help improve chances of pregnancy. In this article, we will be learning about infertility and what karyotype test to detect it.
According to the World Health Organization (WHO), infertility is defined as a disease of male or female reproductive system that is characterised by failure to achieve a pregnancy after 12 months or more of regular unprotected sexual intercourse. Infertility affects millions of people. It is estimated that approximately 1 in 6 people of reproductive age experience infertility in their life.
Infertility in men is commonly caused by problems in production of semen, absence or low levels of sperm or the abnormal shape and movement of sperm. Infertility in women may be caused by a range of abnormalities of the reproductive organs such as ovaries, uterus, fallopian tubes and the endocrine system. Infertility can be primary or secondary. Primary secondary is when there was never a pregnancy that has been achieved before whereas secondary infertility is when there is at least one prior pregnancy achieved before.
Why is it important to address infertility? Humans have the right to enjoy life, both physically and mentally. Infertility can get in the way of those wanting to have their own child which is part of human rights. Hence, it is important to understand how infertility can affect and what can be done to improve it. Ironically, knowing infertility can help both women and men from the fear of using contraception in ensuring they are actually ready to have children with the right family planning.
One of the ways to identify and improve infertility is to undergo a karyotype test. Karyotype test is also known as genetic karyotyping test or chromosome analysis. It is a test that looks for abnormalities in the genes of either partner that are associated with infertility. To better understand what karyotype can show, it is best to understand a bit more on cells first. We all know that bodies are made up of cells. Most cells keep their DNA in forms of chromosomes. Each chromosome is made up of a big number of genes. Humans are supposed to have 46 chromosomes, 23 from each parent. There are 22 chromosomes known as autosomes and a pair of sex chromosomes either XX for female or XY for male.
Karyotype problems occur when there is the wrong number of chromosomes that is depicted as genetic syndrome. Chromosomal rearrangement is another type of karyotype problem. This is much more common in women and men with infertility and often overlooked. While it is possible for a man or woman with chromosomal rearrangement to have normal babies naturally, it can be difficult. Furthermore, unbalanced chromosomal arrangements from a man or woman that is passed to their babies and with balanced chromosomes themselves may actually lead to serious birth defects.
Karyotype tests are performed from cultured white blood cells obtained from blood or body fluid. It will take around 2 weeks for the process of growing the cells to advanced cell stage. This process may take longer if needed to be sent to an outsourced specialised laboratory. Genetic karyotyping is typically required before initiation of Assisted Reproductive Technology (ART) that includes intrauterine insemination (IUI) or in-vitro fertilisation (IVF). Even so, karyotype tests are typically recommended by doctors when infertility issues are suspected.
Karyotype tests can show the number of chromosomes in cells and if there are missing, extra or rearranged genes. Since karyotype problems can arise from both men and women, getting a karyotype test as a couple or partner can provide useful information on determining the cause for infertility and the suitable treatment. Karyotyping tests also help to avoid passing genetic birth defects to a future child. For example, knowing the CFTR gene mutation is present in the father’s side, there is risk for passing on male infertility to his child. When both father and mother are possessing CFTR gene mutation, 1 out of 4 children will develop cystic fibrosis. Another example is the Klinefelter syndrome in men who have an extra X chromosome that causes the men to be infertile.
In essence, karyotyping tests can give insight on what has been causing infertility. Knowing the exact cause can help doctors to plan treatments for the couple and help increase chances for a successful pregnancy. Receiving results from the test can be emotional and difficult. Do have discussion with genetic counsellor to get clear picture on what treatment is more preferable or how to cope well and make use of information received via the karyotyping testing.
