The genetic compatibility test is a test that allows us to identify the presence of genes that cause diseases and thus prevent them from being transmitted to future children. This test is performed with a simple blood extraction between the members of the couple or if a donor intervenes, between the donor and the member of the couple that provides the egg or the sperm.
In this genetic analysis, up to 600 diseases linked to a specific mutation can be studied simultaneously. This study includes from serious prevalent diseases to rare diseases that occur in 1 out of every 100,000 births. Genetic diseases can not be cured but we can prevent them with studies of this type.
Can I transmit a disease without suffering it? What are recessive diseases?
We all have mutations in our genetic material and we can all be carriers of a recessive disease that will never manifest itself and that we do not know about. The problem comes when, by chance, your partner is the carrier of that same disease.
Recessive diseases are those in which to have this disease it is necessary that each of the parents give the future child a copy of the mutated gene. The carriers of recessive diseases are completely healthy but when we put together two people carrying the same mutated gene there is a 25% chance of having a child with this disease. These diseases are rare (1% of newborns) but are usually serious and without treatment.
How is the test performed?
The test is performed very simply, for the patient involves a simple blood draw. After this, it is taken to the genetics laboratory and the study of the mutations of both biological progenitors is carried out. Once we have th
e results of both are compared, “genetic matching is done” which consists of verifying if they are carriers of the same recessive disease or not. What happens if we are not genetically compatible? When the result of the test detects that both members of the couple are carriers of the same disease, the solution is found in Assisted Reproduction Techniques. In these cases an in vitro fertilization cycle is carried out and when we have the embryos we will study them at the genetic level with a preimplantation genetic diagnosis (PGD). This way we make sure to only transfer to the woman those embryos that are healthy. If the test is done with donors and there is no compatibility, we will look for a different donor and thus avoid the transmission of the disease of which they are carriers.
With this test do I completely eliminate the risk of having a child with a medical condition?
This test greatly reduces the chances of having a child with a medical condition but is never 100% eliminated. There is always the possibility that a new mutation appears in the child or that a disease is transmitted from those not studied in the gene panel.
Although the risk does not disappear, if it is significantly reduced:
When should this test be done?
– Any couple that wants to conceive a child naturally and wants to know the risk of transmitting certain diseases to their offspring.
– Patients with a family history of a genetic disease.
– Patients who have a family relationship or who belong to a very closed ethnic group
– Patients who are going to undergo assisted reproduction treatments and want to reduce the risk of having a sick child.
– Patients who are going to undergo treatment with donor sperm or donated ovules in order to select the ideal donor and reduce the risk of having an affected child. In this case the analysis will be made to the donor and to the member of the couple that contributes their gamete (ovum or sperm).
One of the most common questions when queries about egg donation is whether the process affects fertility and reduces the chances of becoming a mother in the future.
The answer is NO.
Egg donation does not reduce the chances of becoming a mother, does not accelerate the arrival of menopause and does not compromise the future fertility of the donor.
Women are born with a certain number of eggs that will be lost each month.
When puberty arrives, a woman generally has between 300,000 and 500,000 eggs in her ovaries. In general, every 28 days we discharge an egg that has reached a degree of maturity that allows it to be fertilized if it is reached by a sperm. Although we only discharge one, others are naturally lost that same month.
The process of ovulation occurs naturally following the process. The ovary has many follicles and each of them contain an immature egg. When the period begins, the first day, a group of follicles (8-10) begin to grow, we call this group “cohort”. This group grows little by little during the first 5-7 days during what is called the “recruitment phase”. After this, thanks to the action of the hormones, only one of the follicles is selected, it is the so-called dominant follicle, which will be the one that will reach maturity on the 12-14th day of the menstrual cycle. At this time, thanks again to the action of the hormones, ovulation takes place, which releases the mature egg inside the dominant follicle and which can be fertilized. The other follicles of the cohort that began to grow stop growing and start to shrink and are reabsorbed by the ovary.
In an egg donation cycle we give an extra dose of the same hormones that occur naturally in the body, so that the eggs that wouldbe lost in that cycle, grow and complete the maturation just like the dominant would do. When the eggs are mature, before ovulation occurs, the punction-aspiration of these follicles is carried out under anesthetic sedation. The risks associated with this intervention are very low, and if you work with a team with more than 25 years of experience like CERAM, the risks are almost nonexistent.
At CERAM after performing the egg pick up all donors are warned that they must take contraception until the next period to prevent an unwanted pregnancy. Upon the next period the donor will have a normal ovulation process and may seek a pregnancy when desired, therefore the egg donation does not compromise the fertility of the donor.
It is normal to have doubts about the process, and at CERAM we will be happy to solve them all. You can come to an informative consultation without any commitment, and we will explain everything you need to know and we will clarify together all the doubts that may arise in this regard.
Maria Isabel Bonilla, Embriologist and Donor Coordinator
Secondary infertility is the lack of conception in a couple who have previously had a baby without fertility treatment. Secondary infertility, occurs frequently and as in cases of primary infertility, couples are advised that after a year of unprotected sexual intercourse they should go to the fertility specialist so that the necessary studies are done.
There are many factors that can affect. We must take into account the antecedents of pregnancy and childbirth or previous misscarriage. The complications of births or miscarriage can lead to certain issues that often have to be treated. The age of the couple is very important. There is an important difference achieving a pregnancy at 25 or 30 years than a second pregnancy at 37 or 40 years.
The general health of the couple is another reason to be taken into account, starting with excessive weight loss or gain, the appearance of diseases such as diabetes, hypothyroidism, autoimmune diseases, previous operations that can leave sequels-pelvic adhesions, infectious diseases and / or inflammations of the female reproductive system, complicated ectopic pregnancies that can result in obstruction of one or both of the fallopian tubes. In the case of the male, age also decreases the quality of the sperm, the appearance of varicoceles, testicular traumatisms, episodes of prostatitis, vesiculitis, epididymitis and other testicular diseases. Excessive use of alcohol, tobacco, drugs, exposure to toxic substances or radiation, etc.
When should you go to the specialist? And what treatments are available when the second pregnancy does not occur?
After a year of trying for a baby, if pregnancy is not achieved, it is important to consult directly with a reproductive specialist, to make an adequate clinical history and the necessary studies.
The treatments will be according to the findings, if you can find out exactly what the issue is a new spontaneous pregnancy can be achieved. In other occasions it is necessary to go to the so-called Assisted Reproduction Technique, or Fertility Treatment.
Recommendations when the second pregnancy does not arrive
It is advisable not to let many years pass between one pregnancy and another, no more than 3 or 4 years, especially if you are in your 40s. If you are aware of any important factors such as previous complicated births or misscarriage, curettage or ectopic pregnancies, or infectious or inflammatory diseases of the pelvis you should visit a Fertility expert as soon as you want to get pregnant. The doctor will advise what tests are needed according to the detailed medical history, avoiding having to wait a long time. “If everything is fine, pregnancy will come soon” And of course, we strongly recommended to avoid the use of toxic substances such as excess alcohol, tobacco or drugs. Do sport and have a healthy diet.
Dr. Hugo Benito
Ginecólogo – Experto en Fertilidad en CERAM
Age is a key factor when talking about infertility, which is increasing given that the current society is pushing us to delay motherhood to our earlies 40s due to work or economical priorities. Although assisted reproduction techniques can help many women despite their age, it is true that after 42 years old it becomes more difficult. If we decide to delay our motherhood for whatever reason, we must be aware of all the options we have and the risks we can take.
A 40-year-old woman is young, still very young, but although we have evolved and our body-mind has adapted, unfortunately our eggs and egg remains the same. Age is the determining factor for oocyte quantity and quality, but other conditions can develop and affect fertility with the increase in age such as genetic diseases, early menopause, having suffered from cancer, bad habits of life, etc.
A woman is born with a certain amount of eggs, which is what is known as the ovarian reserve. This reserve will be decreasing throughout life until it reaches exhaustion at menopause.
The moment of greater fertility of a woman is 20 to 27 years, although the levels stay optimal until we reach 35 where the quantity and quality of eggs begins to drop abruptly. At 40, the monthly probability of a healthy woman’s pregnancy is only 5%, while at 30 it is 20%. We must also keep in mind that the presence of menstruation does not assure us that we will get pregnant.
After 45, the probability of getting pregnant is less than 1%. Another key factor to keep in mind is the quality of these eggs or oocytes. The quantity is important but quality is even more important since over the years the eggs accumulate more chromosomal alterations, which makes pregnancy more difficult besides increasing the risk of abortion and the birth of children with genetic diseases. Therefore, the recommendation is to make a Preimplantation Genetic Diagnosis to women who want to perform assisted reproduction treatments with advanced age to prevent recurrent diseases and abortions.
How does age affect pregnancy?
Although we can achieve a pregnancy we must be aware that after 40 years of age any pregnancy is risky. A healthy woman, without any disease that affects the uterus can give birth to a baby even if the quality of its eggs is not good. The egg donation allows women without a good quantity or quality to fulfil their dream of becoming mothers.
We must take in mind that with age, diseases that have nothing to do with fertility, such as diabetes, hypertension, arthritis, etc., appear. These diseases can condition the pregnancy and therefore the pregnancy can become a risk for both the mother and the future baby therefore pregnancy must be well controlled.
Can I know my quantity and quality of eggs?
Knowing the quality of the eggs before undergoing fertility treatment is very complicated and there is no evidence for this. There are several tests, although the main tests are the measurement of the antimüllerian hormone or the antral follicle count in an ultrasound review. With these two tests an expert gynecologist in assisted reproduction can give you an idea of your ovarian reserve.
What can I do to delay my motherhood?
One of the options if we want to become mothers in the future is to cryopreserve your eggs. This technique consists in preserving our eggs when they are of good quality, which is before the age of 35 (or ideally, before the age of 30). They are stored in liquid nitrogen tanks and can be used when desired. It is a simple procedure that gives you more peace of mind when waiting for the right time to face motherhood.
Each woman must be free to choose when she wants to be a mum, although CERAM we believe it is very important that she has all the information to choose with criteria. Be mother when and how you want and be aware of all your options.
Maria Isabel Bonilla
Embriologist and Donor Coordinator
The need for psychological support begins at the time of diagnosis of infertility. The patient usually experiences a state of shock and frustration.
The diagnosis of infertility generates emotional disturbances of importance in the couple. But it also occurs during fertility treatments, emotions such as frustration, anxiety and stress often make their appearance. Therefore, an integral treatment of the couple should be carried out, not only limited to the medical (physical) part. Couples immersed in a fertility treatment experience great emotional tension and it is not uncommon for problems to arise between the couple. Therefore, it is very important that you can have a professional who can help you in the psychological part of the process. Several studies show that the emotional state influences the results of assisted reproduction.
Pregnancy is possible despite being diagnosed with infertility
From this diagnosis it is convenient to perform the necessary tests to find the cause, in most cases it is possible to achieve a pregnancy thanks to the techniques of assisted reproduction.
Then our team of Psychologists, offers advice to deal with anxiety and stress arising from the diagnosis and during the treatment process.
CERAM Psychology Unit
All patients with some indicative symptoms such as period pain, pain with sexual intercourse, abnormal bleeding and especially reproductive problems, should see a specialist to rule out Endometriosis.
Endometriosis is a pelvic inflammatory disease, which affects everything that is called the pelvic cavity and involves not only the reproductive organs such as the uterus, the ovaries or the fallopian tubes, but also neighboring organs such as the urinary bladder, the rectum and in the intestine. Sometimes other organs may show symptoms such as the liver and even scars from previous caesarean sections, not to mention other sites that are even rarer.
Endometriosis, as indicated above, is produced by the “implants” of the endometrium (which is the tissue that lines the uterine cavity) and that each month comes out as “period”. These implants are like “stickers” that stick to the pelvic organs and then to others, producing activity. We can describe it as living tissue which produce secretions that irritate the affected organs and try to detach themselves just like the endometrium. This process usually causes pain on the first and second day of the period and varies in intensity. Therefore the “symptom” of period pain should not be ignored given that with a good assessment of this symptom the disease can be controlled.
With a correct diagnosis and treatment of endometriosis a pregnancy can be achieved
Many of the patients who come to the Fertility clinic have period pain, which has not been studied in depth. There are patients who refer pain not only on the pelvis, but also on the back; the anterior part, which is in the bladder when they urinate and in the posterior part in the rectum, that is to say when they defecate. Many of these patients need increasingly powerful analgesics since in addition to the pain they have associated symptoms such as nausea and vomits. Some patients have had to go to emergency services to receive intravenous treatment due to the pain. The number of patients who miss work on their 1st or 2nd day of the period is significant.
The vast majority of patients suffering from endometriosis have fertility problems ranging from moderate to severe difficulty to achieve pregnancy. Therefore, these patients should be studied and treated by specialists in Assisted Reproduction and in many cases they should be treated in specialized Clinics for the study and treatment of Endometriosis. According to Dr. Hugo Benito, the gynecologist and fertility expert at Ceram Clinic in Marbella, “In most cases with a good diagnosis and treatment of endometriosis, pregnancy can be achieved”.
Endometriosis is a disease described since the second half of the 19th century, which means that it is a very old and much studied disease. There are thousands of scientific articles and books on endometriosis and as we have said before in some countries there are many clinics dedicated solely to the study and treatment of Endometriosis.
In most of the Fertility Clinics there is a lot of emphasis on the study and treatment of endometriosis since it is one of the main causes of infertility and subfertility.
To talk about the treatment of endometriosis
In terms of current treatments we have from oral contraceptives that help to mitigate pain and prevent the progress of the disease. We can also use another type of drugs called progestogens and hormonal analogues and of course surgery in specific cases. In addition there are several surgical techniques that are used to improve symptoms and make pregnancy possible.
According to Dr. Hugo Benito “Endometriosis is a complex disease that must be studied exhaustively to provide each patient with a specific treatment that does not always have to be radical. Endometriosis is a disease that can and should be treated”
Dr. Hugo Benito, Medical Director – Gynecologist, Fertility Expert
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