In short Difficulties conceiving and maintaining a pregnancy may be caused by genetic changes (mutations). Although they may not be outwardly visible, they can cause a number of disorders that may also be unknowingly passed on to future offspring. Therefore, it is worth undergoing diagnostic testing for genetic factors as well, and one of the basic methods used for this purpose is karyotype testing.
A karyotype is the complete set of chromosomes in which a person’s entire genetic material is encoded. A normal karyotype should contain 22 pairs of autosomal chromosomes (the same in both men and women), which carry inherited genes, and 1 pair of sex chromosomes. These chromosomes are responsible for passing on hereditary traits and for the proper development and functioning of the body. Any abnormality in the number or structure of chromosomes may lead to developmental disorders, fertility problems, or an increased risk of miscarriage. Changes in the karyotype often do not cause visible external symptoms and may therefore remain undiagnosed for a long time. For this reason, karyotype testing is an important part of the diagnosis of infertility and recurrent miscarriages.
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Although there may be many causes and symptoms of genetic abnormalities, it is worth paying particular attention to some of them. Indications for genetic karyotype testing may include:
Karyotype testing for couples, which is also performed at our fertility clinic, is simple and does not require any prior preparation. So, what does a karyotype test involve? First of all, the test involves collecting a peripheral blood sample (usually from a vein in the arm), which is then analyzed to determine the number of chromosomes in the cells and their structure.
A karyotype test result is considered normal if it shows 46 chromosomes, including 22 pairs of autosomal chromosomes and one pair of sex chromosomes: XY in men and XX in women.
Karyotype abnormalities include abnormalities related to the number of chromosomes and abnormalities related to chromosome structure.
Abnormalities related to the number of chromosomes involve the presence of an extra chromosome or the absence of a chromosome in the body’s cells. They most commonly occur as trisomies, meaning a situation in which there are three copies of a particular chromosome instead of two.
This group also includes sex chromosome trisomies, meaning an abnormal number of X or Y chromosomes:
Abnormalities related to chromosome structure, on the other hand, involve an abnormal structure of the chromosomes, meaning changes in their fragments rather than in the total number of chromosomes. These are often referred to as structural abnormalities, which may not cause symptoms in the carrier but may increase the risk of fertility problems or abnormal embryo development.
An abnormal karyotype does not mean that it is impossible to achieve a healthy pregnancy and have a child without genetic abnormalities.
– An abnormal karyotype should be discussed in detail with a geneticist. This will make it possible to assess the couple’s potential chances of having a healthy child and to develop an appropriate treatment plan. In addition, preimplantation genetic testing is sometimes recommended if the couple has already obtained embryos. This testing can determine whether the resulting embryos have genetic abnormalities – explains Bartosz Pietrzycki, MD, PhD, from Klinika Bocian in Białystok, a specialist in obstetrics and gynecology who specializes in the diagnosis and treatment of infertility.
Karyotype abnormalities cannot be treated causally because they involve genetic material present in the body’s cells. Management therefore focuses on diagnosis, risk assessment, and selecting an appropriate strategy for infertility treatment or pregnancy management. Depending on the type of chromosomal abnormality, the doctor may recommend genetic counseling, monitoring the course of pregnancy, or the use of assisted reproductive procedures, including preimplantation genetic testing aimed at reducing the risk of passing genetic abnormalities on to offspring.
Sometimes, couples undergoing in vitro fertilization (IVF) are advised to undergo preimplantation genetic testing, including PGT-A, PGT-SR, and PGT-M, if they have decided to undergo IVF treatment and embryos have already been obtained. These tests can determine whether the resulting embryos have genetic abnormalities. This makes it possible to select embryos with normal genetic material before they are transferred into the uterine cavity. Preimplantation genetic testing may reduce the risk of implantation failure and miscarriages resulting from chromosomal abnormalities. These procedures are particularly important in cases of diagnosed karyotype abnormalities, recurrent miscarriages, or previous unsuccessful IVF attempts. The decision to undergo these tests should always be preceded by a consultation with a geneticist and the medical team responsible for the patient’s fertility treatment.
An abnormal karyotype does not always indicate infertility. Much depends on the type and nature of the chromosomal changes, as some of them may not significantly affect the ability to conceive. Some people with an abnormal karyotype may be able to conceive naturally, while in others, the problem is only identified during infertility diagnostics. Therefore, each case requires an individual medical assessment and interpretation of the test results in the context of the couple’s overall clinical situation.
The diagnosis of an abnormal karyotype in one of the partners does not necessarily rule out the possibility of having a healthy child. Many chromosomal abnormalities are balanced and do not cause clinical symptoms in the carrier, although they may increase the risk of reproductive problems. In such a situation, genetic consultation is essential, as it makes it possible to assess the individual risk and plan further steps. Appropriately selected diagnostic testing and medical supervision can significantly increase the safety of a planned pregnancy.
Karyotype testing can be performed at any Klinika Bocian medical facility during the opening hours of the blood collection point. More information about the costs and types of tests performed can be found in our price list.
A karyotype test is a genetic test that assesses the number and structure of chromosomes. Chromosomes contain a person’s entire genetic material. The test makes it possible to detect chromosomal abnormalities. It is one of the basic tests used in the genetic diagnosis of infertility.
Changes in the karyotype can affect the ability to conceive and maintain a pregnancy. They often do not cause any visible external symptoms. However, they may lead to miscarriages or abnormal embryo development. Therefore, karyotype testing is an important part of infertility diagnosis.
Karyotype testing is recommended, among other situations, in cases of infertility with no identified cause. Recurrent miscarriages or fetal death are also indications for testing. It is also performed in cases of abnormal semen parameters. Menstrual disorders or premature menopause are also important indications.
Karyotype testing does not require any special preparation. There is no need to fast or stop taking medications unless your doctor advises otherwise. The test involves collecting a peripheral blood sample. The sample is then sent for laboratory analysis.
The test involves collecting a blood sample, usually from a vein in the arm. Based on the collected sample, the chromosomes in the cells are analyzed in a genetic laboratory. Their number and structure are assessed. The procedure is simple and safe for the patient.
In women, a normal karyotype consists of 46 chromosomes with an XX pair. In men, a normal karyotype consists of 46 chromosomes with an XY pair. This means that the number of autosomal and sex chromosomes is normal. Such a result does not indicate chromosomal abnormalities.
There are abnormalities related to the number of chromosomes and abnormalities related to their structure. Both types may be relevant in fertility diagnosis. They do not always cause clinical symptoms. However, they may increase the risk of reproductive problems.
They involve the presence of an extra chromosome or the absence of a chromosome. They most commonly occur as trisomies, meaning three copies of a chromosome instead of two. Examples include trisomies of autosomal or sex chromosomes. Such changes may affect development and fertility.
Down syndrome results from the presence of an extra chromosome 21. Edwards syndrome is associated with trisomy 18. Both syndromes are autosomal trisomies. They can lead to serious developmental disorders.
Sex chromosome trisomies involve an abnormal number of X or Y chromosomes. Examples include Klinefelter syndrome and Jacobs syndrome. These abnormalities mainly affect men. They may affect the development of sexual characteristics and fertility.
Chromosome structure abnormalities affect the structure of chromosomes rather than their number. They involve changes in chromosome fragments. They are often difficult to detect without genetic testing. They may increase the risk of miscarriage or fertility problems.
Chromosomal translocations involve the transfer of a fragment of one chromosome to another. They may be balanced. The carrier may not have any clinical symptoms. Nevertheless, the change may affect reproduction.
Chromosomal inversions involve the reversal of a chromosome fragment. They usually do not cause symptoms in the carrier. However, they may interfere with the formation of reproductive cells. This may affect fertility.
Chromosomal deletions involve the loss of a chromosome fragment. This results in the absence of part of the genetic material. The effects depend on the size of the missing fragment. They may include developmental disorders or miscarriages.
Chromosomal duplications involve the duplication of a chromosome fragment. This means that excess genetic material is present. They may interfere with the normal functioning of cells. They may also affect embryo development or fertility.
An abnormal karyotype does not automatically mean that there is no chance of pregnancy. However, it requires a thorough genetic consultation. This makes it possible to assess the risks and options for further management. Each case is assessed individually.
Karyotype abnormalities cannot be treated causally. This is because they involve genetic material. Management focuses on diagnosis and planning further steps. It may include infertility treatment or pregnancy monitoring.
In some cases, IVF is used. It may be combined with preimplantation genetic testing, such as PGS or PGD. This makes it possible to assess the genetic material of the embryos. The aim is to reduce the risk of reproductive failure.
An abnormal karyotype does not always lead to infertility. Much depends on the type of chromosomal abnormalities. Some people may be able to conceive naturally. However, an individual medical assessment is necessary.
Karyotype testing can be performed at Klinika Bocian medical facilities. The test is available during the opening hours of the blood collection points. Detailed information is available in the price list. It is advisable to consult the staff before the test.
Genetics, Cytogenetic Testing and Conventional Karyotype
Ozkan E., Lacerda M.P.
Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth
Authors: Uma M. Reddy, M.D., M.P.H.; Grier P. Page, Ph.D.; George R. Saade, M.D.; Robert M. Silver,
M.D.; Vanessa R. Thorsten, M.P.H.; Corette B. Parker, Dr.P.H.; Halit Pinar, M.D.
