By Dr. Llanos Medrano. Article updated and medically reviewed on 28/10/2026 by Manuel Izquierdo (Licensed Gynecologist – 280308601).
A fertility karyotype is a genetic test that allows the number and structure of a person’s chromosomes to be examined. In assisted reproduction, it may be recommended when a person’s medical history or test results suggest a chromosomal abnormality that could be associated with reproductive problems, such as certain cases of infertility, recurrent miscarriage or a family history of chromosomal abnormalities.
The main purpose of fertility karyotyping is to detect these possible chromosomal abnormalities that could cause infertility or pregnancy problems.
This is especially useful in cases of recurrent miscarriages or if a couple has had difficulty achieving a natural pregnancy for a long time. In addition, this test can also predict genetic risks that could be passed on to future offspring.
Karyotyping can detect a wide range of genetic abnormalities and chromosomal diseases, including:
All these alterations can affect fertility, embryonic development or increase the risk of malformations or genetic diseases in the baby. Hence the importance of carrying out this type of analysis to increase the chances of success of fertility treatment.
Karyotyping is a relatively simple test. It requires a blood sample, which is then sent to the laboratory for analysis of the chromosomes under the microscope. In some cases, such as prenatal testing, a sample can also be obtained from amniotic fluid or chorionic villi. The process usually takes around two weeks.
Karyotyping is especially important in in vitro fertilisation (IVF) treatment. Before starting the treatment, both the man and the woman can undergo this test to detect any chromosomal abnormalities that could affect the outcome of the cycle.
If an abnormality is detected, medical specialists can tailor treatment to increase the chances of success, including techniques such as pre-implantation genetic diagnosis (PGT-A or PGT-Sr).
However, the implications depend on the type of abnormality. Some may have no impact at all, while others could be the cause of infertility, recurrent miscarriages or increase the risk of having a child with a genetic disease. In almost all cases, fertility treatments can offer solutions to manage these risks, or alternatives such as gamete donation or embryo adoption.
Karyotype analysis is indicated in situations where it is suspected that reproductive difficulties or pregnancy problems may have a genetic cause.
At IVF-Life we recommend it in cases of unexplained infertility, when there are recurrent miscarriages or repeated failures in IVF treatments, when foetal abnormalities are detected and when there is a family history of genetic diseases and problems in sexual development.
Interpreting the results of a fertility karyotype test involves examining the number and structure of a person's chromosomes. This test reveals whether there are any chromosomal abnormalities that may affect fertility or increase the risk of genetic diseases in the future baby.
A normal karyotype has 46 chromosomes arranged in 23 pairs (22 autosomes and 1 pair of sexual chromosomes: XX in females and XY in males). Normal results indicate that there are no visible abnormalities in the number or structure of the chromosomes. This suggests that there are no obvious genetic alterations that may be causing infertility or increasing the risk of pregnancy complications.
This condition is known as aneuploidy and occurs when there is an abnormal number of chromosomes. They may be responsible, for example, for Down’s syndrome.
This occurs when there is a change in shape or structure of the chromosomes:
Yes. Having an abnormal karyotype does not necessarily mean that either partner is infertile or unable to have healthy children. The reproductive implications depend on the type of chromosomal abnormality identified. For example, some people have balanced chromosomal translocations, in which genetic material is rearranged without any significant loss or gain. Although these abnormalities may not affect the health of the person who carries them, in certain cases they can increase the risk of producing embryos with chromosomal imbalances and, consequently, the risk of miscarriage or having a child with genetic abnormalities.
For this reason, when a chromosomal abnormality is identified, genetic counselling can help assess its potential implications and the reproductive options available. Depending on the individual case, these may include trying to conceive naturally or undergoing in vitro fertilisation (IVF).
Shimin Yuan, Dehua Cheng, Qing Zhang, Qing Zheng, Hua Zhang, Jun Zhang.
The landscape of chromosomal aberrations in couples seeking assisted reproductive treatment.
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https://pubmed.ncbi.nlm.nih.gov/32500102/
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