Karyotype testing

Genetics tell a lot about infertility

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What is karyotype testing?

A genetic study that analyses the number and structure of a person’s chromosomes to detect abnormalities that may influence fertility, the development of the pregnancy or the health of the baby.

Undertaking this test before starting the reproduction process allows us to make a diagnosis and design the appropriate treatment.

When is it used?

Before starting treatment

It is always advisable to do so in order to design the most appropriate procedure.

To identify the cause of infertility

When no other specific reason for infertility is found.

Repeated miscarriages

When implantation failure or repeated miscarriages have occurred.

Cases of male infertility

For men with very low or zero sperm count.

Egg freezing

Before a fertility preservation treatment.

Benefits of karyotype testing

Allows detection of chromosomal abnormalities in prospective parents that could affect fertility or cause recurrent miscarriages.

Increases the chances of success of assisted reproduction treatments

Decreases the risk of having a child with genetic disorders

It offers security and peace of mind by having complementary information on the genetic status of both partners.

Treatments in which it is used

IVF-ICSI PGD Egg Donation Double Donation ROPA Method Egg Freezing

How is it done?

Blood is drawn from both partners and cells from the sample are cultured in the laboratory to stimulate cell division and make the chromosomes more visible. The chromosomes are then separated, fixed and stained for analysis by a geneticist to identify any abnormalities in the number, shape or structure of the chromosomes. The result is obtained in about 4 weeks.

What do we do with the results?

We assess whether there are abnormalities and how they may affect the patient’s or couple’s fertility, the success of the treatment and the health of the future baby. Based on this, we will present the reproductive options available. This influences the treatment approach.

Any questions?

We are here to answer any questions you may have about this or other techniques and treatments. We will get back to you as soon as possible.

FAQs about karyotype testing

What is a karyotype?

A genetic test that examines the size, shape and number of chromosomes in a cell. This test is used to identify chromosomal abnormalities that can cause genetic diseases or fertility problems.

How is karyotype testing carried out?

Karyotyping is performed by obtaining a sample of cells, which are obtained from the blood. The cells are cultured in the laboratory, stopped at the metaphase stage of cell division, stained and analysed under a microscope to identify any chromosomal abnormalities.

When is it indicated?

Karyotyping is indicated in cases of infertility, recurrent miscarriages or when there is a family history of genetic disorders.

What kind of chromosomal abnormalities can it detect?

Karyotyping can detect a variety of chromosomal abnormalities, including aneuploidies (abnormal number of chromosomes), translocations (when parts of chromosomes are swapped), deletions (loss of chromosome segments), duplications (extra chromosome segments), and inversions (when chromosome segments are reversed).

What does an abnormal karyotype result mean?

An abnormal karyotype result indicates that there is a chromosomal abnormality that could be related to health problems, infertility or an increased risk of genetic disease in offspring. The specific nature of the abnormality will determine its impact and possible actions to be taken.

Is there any special preparation required before karyotype testing?

No special preparation is required before a karyotype is performed. However, it is important to report any medications you are taking, as some can affect cell division.