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What is a karyotype test for infertility?

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6 fertility expert(s) answered this question

Answer from: Valentina Denisova, MD PhD Obstetrician Gynaecologist

Gynaecologist, Fertility Specialist
Next Generation Clinic
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Karyotype is a set of chromosomes which contain genetic information and a karyotype stays the same for the whole life and it cannot be changed. Every human has 46 chromosomes, 22 pairs of somatic ones they have numbers from 1 and 22 and one pair of sex chromosomes so person can has two X chromosomes  or X chromosome and Y chromosome. This last pair defines a sex of person.
Sometimes human can have abnormalities within this set and these abnormalities can lead to infertility or pregnancy loss and once somebody has a history of recurrent pregnancy losses or many as unsuccessful IVF attempts, we need to check Karyotype of both partners and if they find out any abnormalities within a karyotype, we can help such couple in realizing they wish to become parents by carrying out PGT of the embryos. PGT is preimplantation genetic testing so before the transfer of the embryo, we will check it.
Regarding IVF programs, I have to say that  aneuploid, abnormal number of chromosomes is the main reason for IVF failures and carrying out assisted reproductive technologies we can do genetic testing of the embryos to shorten the time leading to pregnancy avoiding these unsuccessful embryo transfers.

Answer from: Wael Saab, MRCOG, Bsc

Gynaecologist, Deputy Clinical Director at CRGH, Associate Professor at UCL
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Your doctor might request some tests specifically if you have been struggling to conceive for a long time or if you are struggling with recurrent miscarriages and the common test is called a karyotype. The karyotype is the medical term for chromosomal analysis. It is a simple blood test that can be done from both men and women. It will be literally checking the numbers of chromosomes that the gentleman and the lady has. We expect people to have 46 chromosomes but what we are looking for are some chromosomal aberrations like what we refer to as reciprocal, trans balanced translocation where for instance chromosome one is a part of chromosome one is sitting on another chromosome while those individuals will not have any problems health-wise themselves, there they might struggle with fertility issues and miscarriages. In general, these are not tests that are requested routinely for couples suffering from infertility however, they are requested in couple who suffer from recurrent fertility treatment failures or in couple who have recurrent miscarriages and the importance of requesting those tests is that what can we do to change the outcome and the treatment will be for such couple, is not only to go for IVF which means stimulating ovaries, creating embryos in the lab but stimulating ovaries, creating embryos in the lab and biopsying these embryos to check if those embryos are carriers of what we refer to as an unbalanced translocation or an abnormality in the number of chromosomes because those embryos will not implant or those embryos even if they implant, they will end up in an early miscarriage. The likelihood of having a chromosomal abnormality in the couple and not in embryos is not very common. It accounts to approximately 3 to 4% of couples with recurrent IVF failures but when it is present, there are lots of things that can be done in order to improve the fertility outcome and help couples having a successful outcome from the treatment.

Answer from: Evangelos Sakkas, MD, MsC

Gynaecologist, Head of Gyncare IVF Clinic
Gyncare IVF Clinic
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Karyotype should be done to every patient consulted in IVF centre. The karyotype is a very basic exam where we see the chromosomes. Chromosomes are the small pieces in our body, in every cell and that contain DNA information – genetic information. Normal male is 46 XY, a normal woman is 46 XX. Whichever imbalance or problem in normal karyotype can cause of course problems in the health of a patient and also problems in infertility and problems in conceiving a child.
Fortunately there are many ways of by pass this karyotype problems and in this cases when we have abnormal karyotype, we always advice couple to do PGS, PGD – biopsy of embryos before transferring the embryos because usually this type of diseases can be inherited or lead to recurrent abortions.
Always check the karyotype and when there is abnormal karyotype – do PGS.

Answer from: Madhavi Gudipati, MBBS MD MRCOG

Gynaecologist, Obstetrician, Consultant OB-GYN, HFEA 'Person Responsible' at Sunderland Fertility Centre
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A karyotype test is not routinely needed for fertility, even in women who have recurrent miscarriages it is not a routine test any longer. It’s only when in women with miscarriage that the products of conception have shown that it was because of a chromosomal abnormality, that’s the only situation we are checking for karyotype. In women who have early ovarian failure generally, they would have the karyotype done before they approach the fertility clinic but it is unusual that we need to do a karyotype for women in fertility clinics.
We do karyotype for men in the clinic in whom there is absence of sperm or significantly lower sperm count and then we do.

Answer from: Raj Mathur, MD

Gynaecologist, Chair of the British Fertility Society, Consultant at Manchester University NHS Foundation Trust
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Karyotype is a test where we look at the chromosomes of a patient. You might know that the standard, normal male karyotype is 46XY which means that they have 46 chromosomes and they have an X and a Y sex chromosome and for women it is 46 XX. It’s actually very rare for us to find the karyotype abnormality as the cause of infertility. There is a group of women who have something called Turner’s syndrome who have a 45 XO karyotype but that’s not a very common presentation, so we don’t do karyotype as a routine test for infertility.

Answer from: Radwan Faraj, MD

Gynaecologist, Gynaecology and Reproductive Medicine
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Karyotype test is simply during your chromosomes. Chromosomes are building blocks of life. Quite often, this test is not required for the initial management of an infertile couple. It’s quite often used mainly for women who have recurrent miscarriages because if you have recurrent miscarriages here we check the karyotype or the chromosomes for the miscarriage itself; the product of conception. And if that’s your only abnormality, we check the father and mother; the couple for their chromosomes, in case there is any abnormality or hormonal imbalance.

Now, this is in the context of recurrent miscarriage. In the context of infertility, we do chromosomes for the woman or karyotype in case we suspect the woman has premature ovarian insufficiency, whether she may have abnormal chromosomes and that’s an example of a condition we call Turner Syndrome. In this condition, she will have problems with her period or what we call amenorrhea; where she will have no periods. The other cause from the female is we test for other chromosomal abnormalities depending on the condition that she has. If the family has inherited certain chromosomal conditions, in their sister or mother, it will be useful to check if the woman has normal chromosomes.

Regarding the male factor, we test for chromosomes,  NK cells of low sperm count or no sperm count. A condition we call oligospermia or azoospermia. That means there’ll be no sperm when they ejaculate. We need to rule out a condition we call Klinefelter syndrome or other genetic tests such as for cystic fibrosis. So in Klinefelter syndrome, the male partner will have an extra chromosome and that will make the testicles not produce sperm. Cystic fibrosis; if the male partner is a carrier for that, we usually check his female partner because if both of them are carriers, there is a 25% chance that the baby will have cystic fibrosis. That’s mainly the genetic or karyotype tests that we do under the management of reproductive issues.

About this question:

What happens if a karyotype test is abnormal?

One of the essential tests done at the very beginning of infertility investigation is karyotype tests done for both female and male. Basically it is a chromosome analysis and it can reveal certain genetic abnormalities. The test is valid for your entire life and there is no need to repeat it.

 

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