Chromosome analysis, sometimes referred to as genetic karyotyping, is a technique that can identify specific genetic anomalies. A genetic ailment or disease can be confirmed or identified using it. A couple may also be at risk of having a baby who has a genetic or chromosomal abnormality, according to the results of the tests. If: The doctor could advise genetic karyotyping in the following situations:
- For more than a year, you haven’t been able to get pregnant.
- You’ve had one or more consecutive miscarriages in the past.
- Have experienced a stillborn birth.
- The male partner has no sperm in his semen or a very low sperm count. (Azoospermia or severe oligozoospermia.)
- Primary ovarian dysfunction has been determined to exist in the female spouse. (Also known as premature ovarian failure or POI, primary ovarian insufficiency.)
Before using assisted reproductive technology, such as IUI or IVF, genetic karyotyping may be necessary. This is particularly true for those thinking about IVF using ICSI, which raises the risk of passing on genetic abnormalities and male infertility.
How the genetic karyotyping test is done?
The test for infertile couples is often conducted by drawing blood from both the male and female partners. A lab is then used to process the blood samples. To encourage their growth, cells from the blood sample are put in a specific container. When the cells have reached a certain stage of development, they are colored and examined under a microscope. Size and morphology of the cells are assessed by the lab technician. In addition, they count the number of chromosomes in each cell and take a picture of it. The specific image makes it possible to assess the chromosome configurations. The cost of karyotyping depends on the selected parameters for the patient. It may vary from 3500 to 15000 according to the requirement.
Why Genetic Counseling
Genetic testing could help you identify the reason behind your infertility or ongoing losses. The greatest therapy alternatives may be suggested by your doctor if you can explain to them why you can’t conceive or keep miscarrying. To prevent passing on a hereditary birth defect to a future child, genetic testing should be performed prior to fertility treatment. Certain genetic mutations can make a parent infertile if they have it, but if both parents have it, their child may inherit a more serious genetic disorder.
One type of male infertility, for instance, is linked to the CFTR gene mutation. Cystic fibrosis, a dangerous condition, is also connected to it. There is a chance of passing on male sterility to the child if only the father has a CFTR gene mutation. A child’s likelihood of developing cystic fibrosis is one in four if both the mother and father carry a CFTR gene mutation.
IVF-ICSI involves selecting one sperm and injecting it right into the egg. The probability of an egg being fertilized by a genetically “weaker” sperm is significantly higher in this scenario. The chance of passing on some genetic issues increases as a result.
Possible Results From Genetic Karyotyping
When your doctor does a karyotypes or DNA analysis test for fertility or recurrent miscarriage, what is the goal of the test? The following are some options:
Klinefelter Syndrome:
The sex chromosomes, X and Y, are affected by this illness. People typically only have two sex chromosomes. They are genetically female if they are XX. A person is genetically male if they are XY. The individual with Klinefelter syndrome possesses XXY sex chromosomes Male infertility is one consequence that could arise from this. Male infertility is one consequence that could arise from this.
Y Chromosome Microdeletions:
An issue with the sex chromosomes also contributes to this disease. The XY chromosomes are normal in a male with Y-chromosome microdeletion however certain genes are missing from the Y-chromosome. Infertility can result from this.
Balanced Translocation:
Both men and women can experience translocations, which can cause infertility or repeated miscarriages. The movement of “parts of” chromosomes is referred to as a balanced translocation. Therefore, they don’t have any “additional” genes that shouldn’t be there and they don’t have any missing genes (unlike Y-chromosome microdeletion) (like with Klinefelter syndrome.) Yet the genes aren’t in the right place. It would be similar to someone putting your silverware in your bedroom dresser while you kept all your socks and silverware at home in separate drawers. Balanced translocations can occasionally have no negative effects on health, but they can also. Repeated miscarriages are a potential result.
Kallmann Syndrome:
Infertility may result from the uncommon genetic condition known as Kallmann syndrome, which affects both men and women. Typically, those with this disorder don’t experience puberty as they should. It’s excellent news that fertility treatments frequently succeed.
Cftr Gene Mutation:
Both parents must convey the gene to their offspring for full cystic fibrosis to develop. Although they don’t show symptoms of the entire disease, some men who possess the cystic fibrosis gene will nonetheless have issues getting pregnant.
Risk of transmission of a genetic problem:
It is occasionally possible to estimate the likelihood of transferring a genetic problem to your child through genetic testing for fertility. Based on your family history, your doctor might perform a more thorough test or seek a specific risk or condition.
Options When You Have A High Genetic Risk
Depending on the hereditary risk you are exposed to, your options will vary. The identification of a genetic issue or risk may, in some circumstances, confirm or assist in the diagnosis of a particular type of infertility, increase your risk of miscarriage or stillbirth, increase your risk of having a child with a particular genetic disorder, and increase your risk of passing on male or female infertility.
You should go over your results with a genetic counselor. The choices could generally be any of the following:
Add Preimplantation Genetic Diagnosis (PGD) To Your IVF Treatment:
A growing embryo undergoes PGD in order to test for genetic abnormalities in one cell. (The embryo is unharmed when this cell is removed.) Thereafter, the most healthy-appearing embryos can be transferred. Genetically flawed individuals—many of whom may never have survived—are rejected. PGD may lower the chance of certain genetic abnormalities as well as early miscarriage. A pregnancy and kid are not, however, 100% genetically healthy even with PGD. Despite PGD, you may still miscarry. PGD testing is rejected by certain people for ethical reasons.
Choose To Forgo IVF/ICSI:
Normally, only the healthiest sperm are able to penetrate and fertilize an egg when an egg and sperm are combined. The weaker, potentially genetically defective sperm are eliminated by natural selection. Sperms are directly inserted into an egg during IVF with ICSI. Natural selection is impossible. Genetic mutations may be more likely to be passed down as a result. You might choose not to take the chance and steer clear of IVF-ICSI. Instead, you could try standard IVF (even if it might have a reduced success rate for you), stop the medication, or select an embryo or sperm donor.
Go On With Treatment:
Considering the heightened risk of transferring a genetic disorder or male infertility to your child, It’s not a given that you’ll pass on a condition. Even if you’re at risk of doing so, see a genetic counselor so that you may make an educated choice.
Choose To Use A Sperm Donor, Egg Donor, Or Embryo Donor:
Genetic abnormalities can be present in donor gametes as well. Although donors are typically screened, no decision is without risk. It’s crucial that the egg or sperm donor you choose has been checked for the genetic disorder you run the risk of carrying on.
Pursue Adoption Or A Childfree Life:
Some couples choose to adopt after learning the results of their genetic testing. Some people make the decision to give up on attempting to get pregnant and live childless lives.
Emotional Considerations
Genetic karyotyping results can be emotionally and physically taxing to receive. Results might occasionally guide your decision-making regarding your course of treatment. Sometimes the knowledge is useless and cannot be used in any meaningful way. Without any apparent reason, this may result in mental pain.
It’s critical that, before undergoing testing, you are aware of the information that genetic counseling will provide for you and whether you will ever be able to act on it. Request a consultation with a genetic counselor prior to consenting to testing.
They can give you testing’s benefits and drawbacks, assisting you in determining whether testing is beneficial for you and your spouse. Make sure a genetic counselor will be on hand to go over any results as well.
