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What happens if a karyotype test is abnormal?

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3 fertility expert(s) answered this question

Answer from: Malini Uppal, MBBS, DGO Diploma Prenatal Genetics and Foetal Medicine

Gynaecologist, Medical Director and PR to HFEA
GENNET City Fertility
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Quite a large part of male infertility is linked to some sort of genetic mutation. As I was saying if there is a karyotype it depends on what your karyotype results are so it could be commonly seen as Kleinfelter syndrome so XXY. So these males may have a female characteristic that we can look at as well. They could have oligozoospermia that means a very reduced number of sperm or no sperm  in their ejaculate because their testicles do not develop well. These kinds of males with a karyotype with Kleinfelters have a low chance. There have been cases where we have used sperm from the testicles of a Kleinfelter male but the chances become very very low. If we find Y chromosome deletion then again the chances become very low of having offspring using their own sperm.
If we are looking at karyotypes in females, where we have sternal syndrome, where there is a lack of one of the X chromosomes, they again will have ovaries and genitalia that have not developed very well. Therefore the production of eggs is not normal, so the chances of having a child using their own eggs become very very low. But if we test, and let’s say it is a karyotype, then we could get structure rearrangements, translocation, immserisons, micro deletions. So things such as translocation,a very common one is Robertsonian translocation, which means there is a little part of a chromosome that attaches to the other side and they swap places. These are also known as balance trans locations. The individual may be absolutely normal with abnormal life but then can produce gametes which will not produce a normal embryo. With these cases we can test the embryo, which we call PGTSR, so pre genetic testing for structural rearrangement. Then we select a normal embryo and put it back to give a very good chance of success for these types of couples.
There are other single gene disorders that we find when we complete the chromosomal testing and we can do prenatal testing for disorders like this, so select a normal embryo and put the normal embryo back. So there are certain things we can complete as the science is more advanced now or we have higher efficiency and testing now that we can do. The gene pool, when we are not speaking about karyotype or X chromosomes, there are two types of genetic issues where there are gene mutations and there are chromosomal issues. Chromosomal can be where there is a chromosome missing or e.g. XYY where there is an extra chromosome or there are gene mutations. The gene pool is very vast and I know we have genomic testing but we would not do genomic testing for everyone. A lot of issues where we are seeing premature ovarian failure or not enough sperm production are now being linked to these gene mutations. In the future we hopefully will have treatment for everything but we are doing very well, we have solutions for a lot of them but not for everything at the moment. There are 2300 genes which are expressed for the production of semen.

Answer from: Malini Uppal, MBBS, DGO Diploma Prenatal Genetics and Foetal Medicine

Gynaecologist, Medical Director and PR to HFEA
GENNET City Fertility
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Very commonly seen as klinefelter syndrome so XXY. So these males may have a female characteristic that we can look at as well. They could have oligozoospermia that means a very reduced number of sperm or no sperm in their ejaculate because their testicles do not develop well. These kinds of males with a karyotype with kleinfelters have a low chance. There have been cases where we have used sperm from the testicles of a kleinfelter male but the chances become very very low. If we find Y chromosome deletion then again the chances become very low of having offspring using their own sperm. If we are looking at karyotypes in females, where we have sternal syndrome, where there is a lack of one of the X chromosomes, they again will have ovaries and genitalia that have not developed very well. Therefore the production of eggs is not normal, so the chances of having a child using their own eggs become very very low. But if we test, and let’s say it is a karyotype, then we could get structure rearrangements, translocation, immserisons, micro deletions. So things such as translocation, a very common one is Robertsonian translocation, which means there is a little part of a chromosome that attaches to the other side and they swap places. These are also known as balance trans locations. The individual may be absolutely normal with abnormal life but then can produce gametes which will not produce a normal embryo.

Answer from: Raj Mathur, MD

Gynaecologist, Chair of the British Fertility Society, Consultant at Manchester University NHS Foundation Trust
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If a woman has an abnormal karyotype it will usually have been done for a reason other than infertility. It might have been done for either she’s failed to start having periods in which case there might be a diagnosis of something like Turner syndrome or it might have been done in the context of repeated miscarriages. What further action is needed depends very much on the context in which the test was done and the exact abnormality. For instance if it’s a situation where there is an increased miscarriage risk and you carry what is called a balanced translocation, then you need genetic counseling to work out what the risk of another miscarriage would be, what the chances of having a live birth would be and then in some cases you might might need to have pre-implantation genetic testing. On the other hand, if it is something like Turner syndrome that usually tells us that the ovarian function is going to be very low and most of the time fertility treatment here would be in the form of donor egg IVF.

About this question:

How karyotype results may affect medical approach on fertility treatment?

What is karyotype test for infertility? What are some of the medical applications of karyotyping? Does chromosome affect infertility?

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