High risk of down syndrome, analysis and screening. Questions Who was at risk of DM 1 122

Diabetes is a serious, severe disease. The scourge of modern society. Every year there are more and more cases of this disease, and the saddest thing is that it also affects children.

It is of two types: SD type 1 and type 2. Type 2 diabetes affects mostly older or overweight people. Their main treatment is a balanced diet and a little physical activity.

The first type of diabetes is diagnosed in childhood or adolescence, when the hormonal development of a teenager is underway, but maybe later. With such diabetes, the main thing is insulin injections every day, as well as a strict routine and self-restraint.

The pancreas in the first type of diabetes slowly "exhausts itself", insulin production decreases, glucose enters the blood into in large numbers and partly it is excreted through human urine.

Doctors need to test blood for glucose and urine to make a diagnosis. The appearance of type 1 diabetes mellitus has certain prerequisites or, more simply, factors that affect this disease. These factors must be known in order to avoid the disease and possible complications.

Factors contributing to the appearance of type 1 diabetes

  • Heredity. If a close relative (mother, father, brother, sister), then the baby's chances of getting sick increase by 3%, and if one of the parents and a sister (or brother) has diabetes, then the risk increases by 30%.
  • Obesity. In the initial stages of obesity, the risk of the onset of the disease increases by three to five times, and in the third to fourth degree, by 10-30 times.
  • Atherosclerosis of vessels, hypertension. Operative treatment or surgical intervention will help to avoid complications.
  • Pancreatitis. At chronic pancreatitis, long flowing in the body, there are serious, irreversible changes in the tissues of the pancreas, which also affect the insulin apparatus.
  • Endocrine diseases of a different nature inhibit the production of insulin and start the pathological process.
  • Heart diseases. With this pathology, doctors recommend strictly monitoring blood sugar and adjusting to the right lifestyle.
  • Bad ecology. Complex ecological situation, the spread of viruses (chickenpox, mumps, rubella) to a weakened body disrupts the immune system and, in eventually lead to this disease.
  • Place of residence. In Sweden and Finland, they get sick much more often than in other countries.
  • Race. Latin Americans and representatives of Asian countries have fewer cases of fixation than Europeans.
  • Diet. Early feeding with breast milk, baby cereals, lack of vitamin D, pediatricians call another additional risk factor for the phenomenon.
  • Late delivery, preeclampsia (complications during pregnancy).
  • Antibodies in the blood against islet cells. If, in addition to the hereditary factor, these antibodies are present in a person’s blood, then there will be more chances to get it.
  • Multiple sclerosis, anemia, may be additional factors in the development of the disease.
  • Stress, prolonged depression. Blood sugar rises greatly with prolonged, severe stress, and the body at some point cannot cope with such a load.
  • Vaccinations in childhood can lead to type 1 diabetes.

Video: Risk factors for diabetes


Unfortunately, there is no complete cure for diabetes. The main treatment is insulin therapy. Many traditional healers recommend doing special gymnastics, which consists of pole vaulting, running, long jump, and contributes to the optimal removal of carbohydrates from the body. And of course, you need to establish proper nutrition.

Unfortunately, no obvious reasons for the appearance have been identified so far, but when it is detected on early stages and, knowing all the risk factors for its occurrence, in the future, complications or even the disease itself can be avoided.

Sincerely,


Hello everyone! Girls who have been in similar situations, respond! On the 27th of May the first screening took place. By the way, everything was in order. They wrote down the phone just in case, but I didn’t expect that they could call back, and now a week later a call - come for a referral to the cpsir, you have a high risk. I don’t remember myself, I arrived in tears, on wadded legs, took all the papers. Risk 1:53. The next day, I went for an examination. The uzist looked at the abdomen and vaginally for a very long time, turned on the doppler several times, and everything seemed to be fine, but he did not like DOPLEROMETRY OF THE TRISCUPITAL VALVE: REGURGITATION. I entered the data of the new ultrasound into the program and the results of screening a week ago, the computer issued a risk of DM 1:6. Sent to a geneticist. After looking at the report, she explained to me that this regurgitation may simply be a feature of the fetus, but coupled with a low PAPP-A value of 0.232 MoM, this is a marker of chromosomal abnormalities. Everything else is within the normal range. They suggested a chorionic villus biopsy. I have so far refused, the nurse almost fell off her chair, like the risk is so high and XA is not treated, and in my place she would not even think for a minute. I asked the geneticist about the Panorama analysis (terribly expensive maternal blood test), she answered me that of course you can do it, but it excludes only 5 main CAs and a few very rare ones, it cannot completely eliminate anomalies, and in my case it is recommended invasion. I have already read a ton of articles, questions and everything like that on this topic, and I just don’t understand what they found so terrible in my analyzes? Regurgitation, as it turned out, is physiological at this time and disappears by 18-20 weeks (if it does not go away, this indicates a risk of heart defects, many go away after childbirth, and some live with it and do not affect anything. Especially since my husband has prolapse mitral valve, which was inherited from my mother, maybe this is somehow interconnected). Hormones in general may not be indicative, because. I have been taking duphaston since the beginning of pregnancy, I ate 2 hours before the analysis (it turns out you can’t eat 4 hours before, they didn’t tell me about it), I drank coffee, I was nervous and worried about ultrasound and I’m afraid to donate blood, and in Lately chronic fatigue, with an older child I get tired. And all this affects the results. The geneticist didn’t ask anything like that, he wasn’t interested, they generally have some kind of assembly line there, and it was as if for statistics they shoved me there. But they planted a bit of doubt in me, I burst into tears, I was worried for a year ahead. The husband asks for a biopsy. I am terribly afraid of the consequences, I am afraid of losing or harming the child, especially if he is healthy. On the one hand, if everything is fine, I will breathe a sigh of relief and send all the doctors away. On the other hand, if everything is bad, what to do? Will I be able to terminate the pregnancy, allow my child to be dismembered inside me, especially now when I think I am starting to feel it. But another option is whether I can raise such a child who needs a special approach and a lot of attention, when sometimes you want to run away from a completely healthy daughter ... Damn, all these thoughts are eating me up. I don’t know what to do ... Just in case, I will give the screening data:

B-ty term: 13 weeks

Heart rate 161 bpm

Venous duct PI 1.160

Chorion/Planceta low on the anterior wall

Umbilical cord 3 vessels

Anatomy of the fetus: everything is determined, everything is normal

b-hCG 1.091 MoM

PAPP-A 0.232 MoM

Uterine artery PI 1,240 MoM

Trisomy 21 1:6

Trisomy 18 1:311

Trisomy 13 1:205

Preeclampsia up to 34 weeks b-ti 1:529

Pre-eclampsia up to 37 weeks b-ti 1:524

In the prevention of multifactorial diseases with a hereditary predisposition, which include IDDM, a necessary link ismedical genetic counseling. The main task of a medical genetic consultation is to determine the genetic risk of a disease and explain its meaning in an accessible form. With diabetes, spouses most often turn to medical genetic counseling to assess the risk of the disease in future children due to the presence of this disease in previous children, or in the spouses themselves and / or their relatives. Population genetic studies have made it possible to calculate that the contribution of genetic factors to the development of DM withputs 60-80%. In this regard, medical genetic counseling of relatives of patients with diabetes acquires exceptional relevance and perspective.

The main questions that doctors usually have to deal with relate to the risk of developing diabetes. with existing children or siblingssick, the possibility of classifying it, and forecast regardingfuture (planned) family members.

Counseling families of patients with type 1 diabetes consists of several generally accepted stages, which have their own characteristics for this contingent.

11.1. Stages of counseling

First stage of counseling -clarification of the diagnosis of the disease.

Usually the diagnosis of type 1 diabetes in childhood and adolescence is not difficult. However, if other family members have diabetes, it is necessary to verify their type of diabetes, which in some cases can be a difficult task and will require the doctor to carefully collect an anamnesis of a sick relative. Differential diagnosis between the two main types of DM (1 and 2) is carried out according to generally accepted criteria.

The genetic heterogeneity of the two main types of DM, proven in population genetic studies, indicates their nosological independence and independence of inheritance. This means that the cases of type 2 diabetes in the pedigree of individual patients are random and should not be taken into account when assessing family risk.

When conducting medical genetic counseling, it is also necessary to exclude genetic syndromes, which include diabetes mellitus, since they are characterized by monogenic inheritance.

The second stage of counseling – determination of the risk of developing the disease in relation to existing family members and planned offspring.

Empirically, average estimates of the risk of developing diabetes for family members with relatives with type 1 diabetes were obtained. Relatives of the 1st degree of kinship (children, parents, siblings) have the maximum risk - on average from 2.5-3% to 5-6%. It has been found that the incidence of diabetes in children from fathers with type 1 diabetes are 1-2% higher than from mothers with type 1 diabetes.

In each particular family, the risk of developing the disease depends on many factors: the number of sick and healthy relatives, the age of manifestation of diabetes in family members, the age of the counselor, etc.

Table 8

Empirical risk for relatives of patients with type 1 diabetes

Calculate according to a special method development risk tablesSD 1 type depending on the number of sick and healthy relatives and the age of the consulted for families of various types. Family types, parental status, and number of affected siblings are presented in Table 9.

The site provides background information for informational purposes only. Diagnosis and treatment of diseases should be carried out under the supervision of a specialist. All drugs have contraindications. Expert advice is required!

Nuria asks:

Hello. I am 25 years old. At the 16th week of pregnancy, I passed the test for AFP 30.70 / 0.99 mom / and for hCG 64.50 / 3.00 mom /. Please tell me what the numbers mean. What is my chance of having diabetes? My pregnancy is 27-28 weeks. Just got to know about the screening results. I was taking Duphaston at the time. Tell me how high the risk is. Thank you.

Based on the data you provided, the risk of a child having a genetic pathology of Down syndrome is low.

Nuria asks:

Thanks for the clarification. But I was given a threshold risk at the center, so I'm very worried. What other data are taken into account to identify the risk for diabetes? TVP-1.5, DNA-3.2. Ultrasound at 20 weeks good. Thanks again.

Most likely, the degree of risk was calculated taking into account the increased value of hCG, since the rest of the survey indicators presented by you correspond to the norm.

Natalia asks:

Hello. Help, please. I received the result of the screening and was upset. Put:
Age risk of DM 1:371
DM risk value 1:306
AFP 26.04 Mohm 0.86, HCGb 29.74 Mohm 1.87
Full 35 years old, second pregnancy, screening for a period of 15 weeks 6 days, with a difference - they did an ultrasound, and after 2 days they took blood.
Conclusion - threshold risk.
Say it's bad? Thank you

The risk of genetic pathology can be assessed as slightly above average. There is no reason to panic. The screening only assesses the probability of having a child with a genetic pathology.

Natalia asks:

in addition to the previous one.
Ultrasound was done at 16 weeks. TVP 4 mm (I read that they usually measure up to 14 weeks).
at 17.5 weeks nasal bones 6.3 mm
Apparently, on the basis of TVP, a threshold for SD was set. Is it worth it to be afraid? Thank you.

The size of the nasal bone is indeed normal, the thickness of the TVP is measured before the 14th week of pregnancy, with the KTR of the fetus (coccyx-parietal size) not higher than 84 mm, later than this period or at higher KTR, the results of the study cease to be informative. So, in your case, there is no need to worry. The threshold risk was set for you not by analyzing the results of screening and ultrasound, but by your age.

Elena asks:

Hello! Tell me, please. Results of prenatal screening: 1st trimester risk of trisomy 21 1:2472; 2nd trimester 1:29 How can this be? Complex risk 1:208 Study results 13 weeks: St. beta hCG 74.53ng / ml (1.74MoM) PaPP-A5684.00Mu|L (1.67MoM) TVP1.80mm (1.05MoM) ) 17 weeks: AFP 32.39 IU / ml (1.16 MoM) hCG 207.00 IU / l (6.44 MoM) 2 ultrasound will be 12.09 (21 weeks), the first at 12 weeks. 4 days no deviations found. What action to take? I am 34 years old with one fetus.

In the results of the second screening, the level of hCG is sharply increased, please specify if you took any drugs before taking blood for analysis?

Oksana asks:

screening 18 weeks 4 days
age risk 1:135, risk value 1:322
AFP 51.99 MoM 1.16
HCGb 15.60 MoM 1.61
Set a threshold risk, what to do?
I am 39 years old, second child, ultrasound at 21.3 weeks. without deviation

Dear Oksana, the biochemical parameters of the screening are completely normal. If, according to the results of ultrasound diagnostics, there are no deviations, there are no indications for invasive diagnostics either. Usually, in such a situation, at a period of 22 weeks of pregnancy, an expert ultrasound is performed; for this examination, the most qualified specialist with experience in prenatal diagnostics is selected birth defects development. However, if you trust the qualifications of the specialist who performed the last ultrasound at 21.3 weeks, you do not need to repeat the examination. You can read more about the interpretation of the results of biochemical screening of the second trimester of pregnancy in our medical information section dedicated to this diagnostic method, with the same name: Screening. .

Natalia asks:

Hello! Please help me understand the results of 1 screening, within 10 weeks. I am 41 years old, weight 48 kg. Childbirth is coming first.
KTR 31mm
TVP up to 2mm
hCGb marker: conc. 100.1 ng/mL corr. PTO 1.28
PAPP-A marker: conc. 623.9 mU/L, corr. PTO 0.58
They put a high risk of Down syndrome, age risk 1:70, calculated risk 1:65
As far as I know, the limits of the norms for PTO are 0.5-2.0. Aren't my POM readings normal? Do I have cause for concern? In the family, neither I nor my husband have congenital pathologies. I would be very grateful for an answer.

Unfortunately, when determining the risk of chromosomal abnormalities, they are guided not only by MOM indicators, but also evaluate the results of all studies as a whole. In the event that the risk is high, it is recommended to consult a geneticist, who, together with the attending gynecologist, can decide on a diagnostic intervention such as amniocentesis. You can get more information on this issue in the thematic section of our website: Down syndrome

Learn more on this topic:
  • Blood test for antibodies - detection of infectious diseases (measles, hepatitis, Helicobacter pylori, tuberculosis, Giardia, treponema, etc.). Blood test for the presence of Rh antibodies during pregnancy
  • Blood test for antibodies - types (ELISA, RIA, immunoblotting, serological methods), norm, interpretation of the results. Where can you submit? Research price.
  • Biochemical blood test - norms, meaning and interpretation of indicators in men, women and children (by age). The concentration of ions (electrolytes) in the blood: potassium, sodium, chlorine, calcium, magnesium, phosphorus
  • Biochemical blood test - norms, meaning and interpretation of indicators in men, women and children (by age). Indicators of iron metabolism: total iron, transferrin, ferritin, haptoglobin, ceruloplasmin

Greetings! If you remember the day when you or your child was diagnosed with diabetes, then you will remember the questions that began to worry your inflamed brain. I dare to assume that to the question: “Where did type 1 diabetes come from, if there was no one in the family with this disease?”, You never received an answer, just like the question: “Is type 1 diabetes mellitus inherited and /or what will happen to the rest of the children and family members?” They probably bother you to this day.

Today I will try to answer these questions. Type 1 diabetes is a multifactorial and polygenic disease. It is never possible to say which of the factors is leading or the main one. Some scientists divide type 1 diabetes into subtypes: A and B. By the way, type 1 diabetes is not the only form that can occur in the younger generation. If you read the article ““, then you will learn more about this problem.

Subtype A is associated with an autoimmune lesion of the pancreas and the detection of antibodies confirms this. This subtype is most commonly seen in children and adolescents. But it happens that antibodies are not detected, but there is diabetes. In this case, we are talking about subtype B, which occurs for completely different reasons, not related to the functioning of the immune system. To date, these causes are not known, and therefore diabetes is called idiopathic.

Genetic testing for type 1 diabetes

One thing is clear that type 1 is a disease with a hereditary predisposition. What does this mean and how is it different from just a hereditary disease? The fact is that a hereditary disease is the transfer of a gene from generation to generation or a gene mutation in a future organism. In this case, a new person is already born with a pathology or with some other defect.

In the case of diabetes, everything is more complicated. There are certain genes and sections of genes (I will put it simply) that, when combined at the time of the meeting of the egg and sperm, increase the risk of type 1 diabetes. In other words, it is not the defective gene that is inherited, but the degree of risk for a given disease. And in order for the disease to be realized, that is, to develop, provoking factors and a high degree of risk are necessary. If you conduct a genetic study, you can identify a certain degree of risk, which can be high, medium and low. Therefore, it is not at all necessary that having a risk of developing type 1 diabetes, a person will get it. Most often, the development of diabetes is associated with the following genes or gene regions - HLA DR3, DR4 and DQ.

In this regard, it does not matter at all that you have no known cases of type 1 diabetes in the family now or in past generations. It is entirely possible that your ancestors had a low risk that never came to fruition. And besides that, how well do you know your family tree? What did children and adults die of at a young age? After all, diagnostics 100 years ago was not the most progressive, and doctors were not often consulted, especially in the countryside.

Therefore, I believe that it is completely pointless to look for those responsible for the spread of diabetes. Moreover, you should not reproach yourself (I appeal to parents) that I missed, did not finish watching and did not save the child. To alleviate your guilt, the autoimmune process occurs long before the clinical manifestations of diabetes, about a few years, and in some cases a dozen years. Since then, a lot of water will flow away and it is difficult to remember who is to blame and for what. In the end, no matter how much we want to, we will not be able to protect ourselves or our children from everything bad. Bad things happen, and if this happens, then let's think that this is FATE, which cannot be deceived.

Immune testing for type 1 diabetes

When a family has a relative with type 1 diabetes, then to predict the incidence of diabetes in other family members, not only genetic research is used, but also the determination of autoantibodies, i.e. antibodies that fight against the tissues of their own body. For example, if an older child has type 1 diabetes, then parents can perform genetic and antibody testing on the younger child to identify the risks of developing diabetes, because antibodies appear long before obvious ones.

  • antibodies to islet beta cells - ICA (found in 60-80% of cases) In combination with GAD, it dramatically increases the risk of developing diabetes, but in isolation the risk of diabetes is low.
  • anti-insulin antibodies - IAA (detected in 30-60% of cases) In isolation, it has little effect on the development of diabetes, the risk is increased in the presence of any other antibodies.
  • antibodies to glutamate decarboxylase - GAD (detected in 80-95% of cases) Increases the risk of developing diabetes even in an isolated form.

But even here everything is ambiguous. The detection of any one group of antibodies in a child does not mean at all that he will develop diabetes in the future. This only says that this child has a high risk of developing diabetes, which may not be realized. And then, no one is safe from a laboratory error, so it is recommended to retake the tests in 1-2 months.

Therefore, I do not recommend testing for antibodies in healthy family members. IMHO. What can you do knowing about the presence of antibodies? Of course, you can get into experimental groups where diabetes prevention methods are being tested in high-risk groups, but would you want to subject a still healthy child to unknown manipulations? Personally, I'm not ready, and we live far from the center of the country.

Apart from unnecessary hassle, these actions do not bring anything good. Constant expectations and thoughts may one day come true. Personally, I believe that our thoughts are material and everything we think about will someday come true. Therefore, you do not need to think about the bad, attract only positive thoughts that everything will be fine and all other family members will be healthy. The only thing that can be done is to periodically determine fasting glucose and / or glycated hemoglobin so as not to miss the manifestation of diabetes. Since so far there are no proven methods that 100% prevent the development of diabetes, but there are none at all.

Another question that worries everyone with type 1 diabetes: “What are the risks of morbidity in children whose parents have diabetes or if there is already a child with diabetes in the family?” Recently, a 16-year study was completed that examined the prognosis of the disease in families of patients. Here are his results.

The risk of developing diabetes without known relatives with diabetes is only 0.2 - 0.4%. The greater the number of relatives with diabetes in the family, the higher the risk. The risk of developing diabetes for family members with type 1 diabetes is on average 5%. If two children are sick in the family, then the risk for the third is 9.5%. If two parents are sick, then the risk of developing type 1 diabetes for a child already increases to 34%. In addition, the risk of developing type 1 diabetes depends on the age at which the disease manifests itself. The earlier a child in the family fell ill, the higher the risk for the second. If the manifestation of the disease occurred before the age of 20, then the risk for the second child is 6.4%, and if the manifestation of the disease is older than 20 years, then the risk is 1.2%.

Prevention of type 1 diabetes

But what can be done to reduce the influence of these notorious factors that trigger the autoimmune process? And although it all comes down to “lucky or not lucky,” you can still try to influence them as much as possible. Here is a list of methods for the primary prevention of type 1 diabetes.

  • Prevention of intrauterine infection and viral infections of the mother during pregnancy.
  • Prevention of certain viral infections in children and adolescents, such as rubella, measles, mumps, enteroviruses, chicken pox, influenza.
  • Timely treatment of chronic foci of infection (sinusitis, carious teeth, etc.).
  • Timely vaccination, strictly according to the rules and proven vaccines.
  • Exclusion of cow's milk protein from the diet of infants.
  • long breast-feeding(minimum 18 months).
  • Exclusion of the introduction of complementary foods with gluten-containing products under the age of one year.
  • Exclusion from the diet of foods containing nitrates, preservatives and dyes.
  • Normal intake of vitamin D.
  • Addition of omega 3 fatty acid supplements to the diet.
  • Reduced consumption of fast carbohydrates due to excessive stress on the pancreas.

In conclusion, I want to say. We are all different, varying degrees anxiety and "don't care". Therefore, it is up to you to decide whether to take your child to the diagnosis of diabetes mellitus or go yourself. Ask yourself: “Are you ready for a positive outcome? Are you ready to know that your child is at risk of developing this disease and still continue to live in peace? If yes, then you can undergo a complete genetic and immune examination. It is best to do this in the very heart of the country and endocrinology - the Endocrinological Research Center in Moscow.

With this I conclude and sincerely wish the healthy to avoid the “charms” of type 1 diabetes. See you again.

With warmth and care, endocrinologist Lebedeva Dilyara Ilgizovna

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