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Genetic Testing for Inheritable Diseases, Recurrent Miscarriages

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All healthy humans are born with 46 chromosomes that are part of every cell in the body. Chromosomes are divided into 22 matching pairs and one pair of sex chromosomes. These cell structures each carry the genetic material, or DNA, that makes every individual unique.

You receive genes from both of your biological parents; half from your mother and half from your father. The genes determine which features you inherit, such as hair and eye color, blood type, and other characteristics — like your father’s nose or your mother’s mouth.

Inheritable Diseases

You also inherit, via genes, the risk of developing certain diseases. For example, hemophilia and Tay-Sachs disease are inherited diseases that can be passed on from parents to children. These diseases are due to defects in the chromosomes.

You may be aware of amniocentesis and chorionic villus sampling (CVS), both of which are genetic tests that can be performed while you are pregnant and can determine the baby’s health and sex. If, however, you are having problems getting pregnant or have a history of miscarriages, there is a test you can take before you get pregnant to see if your infertility problems are due to a genetic defect. The test is called the karyotype test.

Genetic problems with the embryo or fetus are responsible for a high percentage of pregnancy losses before 12 weeks.

The Karyotype Test

Usually done as a blood test, a karyotype looks at the structure, number and arrangement of chromosomes found in a sample of cells. This test may also be called a chromosome analysis.

If you have had recurrent miscarriages, or if there is no sperm in your partner’s ejaculation, the two of you should both be tested. During the karyotype test, the cells are processed and photographed to determine if there are any missing or extra chromosomes or if there are any structural changes that could prevent you from getting pregnant or cause miscarriages.

You should be aware that this test can also determine if you have a defective chromosome that can lead to problems with a baby’s development or growth. Even if you and your partner are healthy, one of you might carry a gene that can increase your risk of having a baby with birth defects.

The results of genetic testing may be emotionally difficult to handle. For this reason, it is important to talk with your fertility doctor about the pros and cons of taking this type of test.


Comments (34)

I have now had 4 miscarriages. On the most recent they tested the tissue and determined Trisomy 5 was the cause. My husband and I both had karyotyping done and are waiting for the results. As I have researched this I strongly suspect I am somehow a carrier for this. I have a younger brother that was born with multiple congenital defects, most heart defects, but also has fine motor skill problems, learning disability, and seizure disorder. If the results come back that the problem is my genes is the only way I can have a healthy baby to do IVF with PGD? Or is it possible that we have had terrible luck and next time we can have a healthy child without intervention?

Hi M,

If your results come back that you are a carrier of genetic disease, it is highly recommended that you do PGD to know which embryos are healthy. Otherwise, you are likely to suffer other miscarriages due to the chromosomal abnormality. Are you currently working with a fertility doctor? We would be happy to recommend a doctor in your area. Give us a call at 1-855-955-BABY (2229).


Hi there,

I am so sorry for your loss. There are many causes for early pregnancy loss, including hormone imbalance and poor egg quality. You should consult a fertility doctor if you have had 3 losses.

Good luck,

I am 5 month pregnancy I am take test in NT SCAN ,First trimester test all is correct but this month I will take NTSCAN Doctor's told you have chromosomal abnormalities for trisomy 21 I am taken the ammonocentesis test my chromosome test result is normal but my karyotype result is not coming .my question is chromosome21 is normal means karyotype also normal or not ? pls tell me.

I can't give you medical advice. Please check with your doctors to ensure you are getting the correct results of your tests. I wish you all the best. Claire

I would suggest you talk with a genetic counselor. Your wife's ob/gyn should be able to refer you to someone to speak to. I wish you the best, Claire

Hi, I have klinefelter syndrome and my wife has 46 normal chromosomes. She currently in her 5th week of pregnancy. Doctors have told me I cannot father childrens. I have read articles that with this condition there is a very low chance I can be a father. My question is what will be the cons of the pregnancy and it survives the process till she/he borns what would be the possible defects? Thank you.

my wife miscarriage at six times 1&2 are vm and others are unembryo pregnency doctor prefer karyotype give your opinion

Dear docter My name is Mursal and I am 20 years old. I am married to my cousin form my fathers side family, I have this fear of having children with birth defects. My parents were also cousins when they got married they now have 4 daughters (me included). When they gave birth to my second little sister it went wrong and she got disabled from ever since she was given birth. She is the only little sister that now cannot walk, a whole half of her body is disabled of which she can not make use out of it. My mother has depression because she is worrying about my little sisters future. Now my mother is even more stressed and has a fear of all this might happen to me too. My biggest concern are my future children. I know the chances of having genetic diseases in kids are higher when parents are related. I am really stressed and scared of this might happen to me too. I am willing to do any test just to find out and make myself and my mother clear of how high the risk for me of getting a defect child is. Do you guys know where I have to go to find out about this? I hope to hear from you soon. Kind Regards Mursal

Hi my name is Skye !Okay me and my boyfriend are trying to have a baby! And we know his sperm is good. Well I was wondering is the reason why I (the girl) can't have kids is it due to my genetics from my parents? Or is it just because of another reason ?

Hi Skye,

How old are you? How long have you been trying to have a baby? These are the factors to consider before exploring a potential infertility diagnosis.


Hi, I am 33 and My report says that Female Karyotype with an extra segment in the short arm of chromosome 21. This condition is known as 21P+ the origin of the xtra segment is unknown. Pls advice whether this cureable if so advice medicines. wat can be done in this pls advice.

if i have mosaic klinefelter syndrome i.e, very small number of cells are effected with xxy then is it found by karyotype test..?
with karyotype test is it possible to find very small number of effected cells(xxy) also?if very small number of cells effected with this is it possible to father a child?

i am 21 yr old male..i have very small testicles , wide hips ,and my bones also seems to be week...i am suspecting klinefelter syndrome...and only the above symptoms matched other then that nothing matched with me..i am hairy,exact height,good speaking and learning abilities
is there chance of klinefelter syndrome..?if no,is there any other reason for very small testicals..?what the test to be done to find ...?if i found klinefelter syndrome can i marry a girl..?and can i father a child..?

In january 08 i had a baby girl that was born with an unknown brain abnormality, the baby died 27 days later. I later had another baby girl in june 2010 who was born with the same abnormality, i was toled that this abnormality had never been seen before but from what the doctors could gather it is because my faulty gene keeps meeting up with my partners faulty gene when we have girls but we were never toled how we could have a baby girl that would not be born with it.
i really want to know if there is something that we can do to have a girl to compleat our family and if so how do i go about accessing that help.

Hi, I would like to know if there is a test my second cousin and I can take to see if we can have normal kids?

My husband and I are searching for grants for IVF and PGD combination/grants for families with a child with a terminal genetic condition wanting to have more children. Any known grants available? thank you

hello, i have a sister who just had a baby may 23,2011. and her boyfriend is deniying the baby and all of his family says its not his my sister swears up and down it is. so i was wondering do you kno anyplace that gives free dna or a cheap one please let me know.. we are low incomed!!! thanks..

Hi :)
I am doing a student debate on embryo selection in my AP Biology class and I was wanted to ask in your opinion or for any facts that are against embryo selection. Not morally or ethically persay but actual statistics and data that gives reasons against embryo selection. Thank you!

Hey I have a question that I need answers too. I found out that I was pregnant at the end of Dec but my last period was on nov 2,2009. I was told that my due date was on agu 28 but I was also told another due date which was sept 8. but I was induced on agu 25. The problem is that I mess with two guys in nov and and another guy on Dec 10. He took a dna test and it showed that he was the father of my son but my question is how is that so is that even possible? Is it possible I mean wouldn't he be born on sept 10 or something?

27 y old 4 IUI's.. not pregnant
29 y old IVF w ICSI. 7 retrieval 6 fertilized gade8 embryos. 1 transfered
got pregnant.. 12 weeks CVS and AMNIO done Chromosomal abnormalities X0. Termination at 17 weeks.
FET. 5 thawed. 1 survived. 1 transfered. at 2 weeks CVS done chromomosal abnormalities this time DS . termination done at 14 weeks
I am going to try to do CGH time I hope will work for me since it checks for all chromosomes ...Do you think is best option for me since i have defferent chromosomal abnormalities ? Thank you

CGH probably is not the most cost effective and desirable test in your case. Since the anomalities were different every time and common enough for the pregnancy to continue into 2nd trimester the simpler and quite cheaper 9-11 chromosome test by FISH will be just fine.
good luck

27 y old 4 IUI's.. not pregnant
29 y old IVF w ICSI. 7 retrieval 6 fertilized gade8 embryos. 1 transfered
got pregnant.. 12 weeks CVS and AMNIO done Chromosomal abnormalities X0. Termination at 17 weeks.
FET. 5 thawed. 1 survived. 1 transfered. at 2 weeks CVS done chromomosal abnormalities this time DS . termination done at 14 weeks
I am going to try to do CGH time I hope will work for me since it checks for all chromosomes ...Do you think is best option for me since i have defferent chromosomal abnormalities ? Thank you

Hi. I am researching Alagille Syndrome for a school project, and I was wondering if there are any carrier tests in existence that one could have done in order to see if they are carriers for Alagille Syndrome.

hello my name is meemy ..
i did 2 times ivf operation and it was failed .. my doctor require from us a kareotype blood test .. and i am so afraid ..
my question is if there will be any problem in my chromosomes or my husband's chromosomes can i repeat ivf operation and if yes , can they choose between embryos the best .. because the previous 2 times embryos were BLASTO ..

Thanks in advance :)

You should definetily do the karyotyping. Once the results are known the IVF may need to coupled with PGD to prevent the transfer of an abnormal and thus not viable embryo. Without the karyotyping the doctors do not have full info.
good luck

My husbond and I visited a couple of infertility centers and did all the tests possible. The diagnosis of my husbond is Klinefelter's syndrome. All the doctors in our country said that it's impossible for my housbond to become a father, only if we take donor's sperm we will be able to become parents. So the question is, whether it is really true. Or maybe there is a possibility for my husbond to become a father.
thank you.

That depends as to whether or not all his cells were 47,XXY or if he was a mosaic. if his karyotype is 46,XY/47,XXY then there may be hope.
good luck

Hi - Thanks for your question. If you are having trouble conceiving, both you and your partner should have a fertility workup to determine the cause. The fertility doctor - also known as a reproductive endocrinologist - will examine the female and will also test the male partner's sperm. Male fertility issues may be referred to a urologist. Depending on the outcome of the testing, you may be given a treatment plan. The good news is that a lot of infertility is treatable. Good luck!

i have done a due date calculator test and it tells me that i am starting my 4th week. i have taken a hpt and it was negative, is it too early to tell with an hpt?

yes hon you are doing one to early. if you already have a ob i would contact them and tell him you think your preggo. they can do blood tests but they will know when it is an appropriate time to do a pregnancy test. at home test arent always accurante. you could have a false negative with is very possible especially if you are early on.

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