Genetic Karyotyping

What It Is, Why It's Done, and What Can You Do if the Results Aren't Good

Pipetting sample into tray for genetic karyotyping testing
Genetic karyotyping can help make an infertility diagnosis, find an explanation for recurrent miscarriage, or indicate your risk of having a child with a genetic disease. Andrew Brookes / Cultura / Getty Images

Quick Definition: Genetic karyotyping – also known as chromosome analysis – is testing that can reveal certain genetic abnormalities. It can be used to confirm or diagnose a genetic disorder or disease. Or, the testing may reveal that a couple is at risk for having a child with a genetic or chromosomal disorder.

For example, karyotyping may reveal that the male partner has Klinefelter syndrome, a genetic disorder often not diagnosed until a man experiences infertility.

Men with Klinefelter syndrome have an extra X chromosome in their DNA (instead of being only XY they are XXY), and they are typically infertile.

Your doctor may recommend genetic karyotyping if:

Genetic karyotyping may be required before receiving assisted reproductive technology, including IUI or IVF. This is especially true for those considering IVF with ICSI, which increases the risk of passing on male infertility and some genetic disorders.

How Is the Test Done

For infertile couples, the test is usually done via a blood draw, from both the male and female partner.

The blood samples are then processed in a lab.

Cells from the blood sample are placed in a special container to encourage them to grow. Once the cells reach a particular stage of growth, the cells are stained and studied under a microscope.

The lab technician evaluates the cells' size and shape. They also take a photograph of the cells and count the number of chromosomes in the cells.

The specialized photograph enables the chromosome arrangements to be evaluated.

Why Genetic Counseling May Be Recommended Before Fertility Treatment

Genetic testing may find the cause for your infertility or repeated losses. Knowing why you can’t get pregnant, or why you keep miscarrying, may help your doctor recommend the best treatment options.

Another reason to do genetic testing before fertility treatment is to avoid passing on a genetic birth defect to a future child.

Some genetic mutations can cause infertility when it’s present in one parent, but, when both parents carry the mutation, they can pass onto their child a more significant genetic condition.

For example, CFTR gene mutation is associated with some kinds of male infertility. It is also associated with a serious condition, cystic fibrosis.

If just the father has a CFTR gene mutation, there is a risk of passing on male infertility to his child. If both the father and mother are carriers of a CFTR gene mutation, there is a 1 in 4 chance they will have a child with cystic fibrosis.

If a couple was considering IVF with ICSI, the risk of passing on a genetic condition is much higher than it is with regular IVF or with natural conception.

This is because with regular IVF, sperm are placed in a petri dish with an egg, and the "strongest" sperm wins.

With IVF-ICSI, a single sperm is chosen and injected directly into the egg. The odds of a genetically "weaker" sperm fertilizing an egg is much higher in this situation. This raises the risk of passing on some genetic problems.

Options if You Have a High Genetic Risk

Your options will depend on what genetic risk you’re facing.

In some cases, the diagnosis of a genetic problem or risk may...

  • confirm or help make a specific infertility diagnosis
  • increase your risk of miscarriage or still birth
  • increase your risk of having a child with a specific genetic disorder
  • increase your risk of passing on male or female infertility to your child

A genetic counselor should review your results with you.

Generally speaking, your options may include any of the following:

Add preimplantation genetic diagnosis (PGD) to your IVF treatment.

With PGD, a developing embryo has one cell removed to test for genetic mutations. (Removing this cell doesn’t harm the embryo.) The healthiest looking embryos can then be transferred.

Those with genetic defects – many of which may have never survived anyway – are discarded.

PGD may reduce the risk of early miscarriage and may reduce the risk of certain genetic defects. But even with PGD, a pregnancy and child isn’t guaranteed to be 100% genetically healthy. You may still miscarry even with PGD.

Some are ethically or religiously opposed to PGD testing.

Choose to forgo IVF-ICSI. Usually, when egg and sperm are put together, only the healthiest sperm manage to penetrate and fertilize an egg. Natural selection eliminates the weaker sperm, which may also be genetically flawed sperm.

With IVF with ICSI, sperm are directly injected into an egg. Natural selection can’t take place. This may increase the risk of passing on genetic mutations.

You may decide not to take the risk and avoid IVF-ICSI. Instead, you may...

  • try regular IVF (even though it may have a lower success rate for you)
  • discontinue treatment
  • choose a sperm or embryo donor instead

Go on with treatment, disregarding the increased risk of passing a genetic condition or male infertility to your child.

Being at risk for passing down a condition is not a guarantee you will.

Speak to a genetic counselor so you can make an informed decision.

Choose to use a sperm donor, egg donor, or embryo donor. Of course, even donor gametes can carry genetic defects. Donors are usually screened, but no choice is risk free.

If you’re choosing an egg or sperm donor, it’s important the donor is tested for the genetic disease you’re at risk for passing down.

Pursue adoption or a childfree life. After receiving genetic testing results, some couples decide to adopt. Others decide to stop trying to have a child and live a childfree life.

Emotional Considerations with Genetic Counseling

Receiving the results of a genetic karyotyping can be emotional and difficult.

Sometimes, the results can help you make choices about your treatment. Other times, there’s not much that can be done with the information. This can cause emotional distress, without any real cause.

Your religious beliefs may also limit how helpful genetic counseling will be for you.

It’s important you understand what information genetic counseling will give you and whether you can even act on it before you go through testing.

Before you agree to testing, ask to speak with a genetic counselor. They can explain the pros and cons of testing and help you decide if testing makes sense for you and your partner.

Also, be sure there will be a genetic counselor available to discuss any results.

More on fertility testing:


CFTR: Genes. Genetics Home Reference. Accessed on February 18, 2016.

Cystic Fibrosis: Prenatal Screening and Diagnosis. FAQ171, February 2016. Accessed on February 18, 2016.

Dohle GR1, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, Govaerts LC. “Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.” Hum Reprod. 2002 Jan;17(1):13-6.

Foresta, Carlo; Ferlin, Alberto; Gianaroli, Luca; Dallapiccola, Bruno. "Guidelines for the appropriate use of genetic tests in infertile couples." European Journal of Human Genetics. May 2002, Volume 10, Number 5, Pages 303-312.

Karyotyping. MedLine Plus. Accessed September 27, 2013.

Klinefelter syndrome. MedLine Plus. Accessed September 27, 2013.

Otani T1, Roche M, Mizuike M, Colls P, Escudero T, Munné S. “Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies.” Reprod Biomed Online. 2006 Dec;13(6):869-74.

Rubio C1, Simón C, Vidal F, Rodrigo L, Pehlivan T, Remohí J, Pellicer A. “Chromosomal abnormalities and embryo development in recurrent miscarriage couples.” Hum Reprod. 2003 Jan;18(1):182-8.

Continue Reading