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

Hi all! 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 an underestimated 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 exclude 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’ve 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 recently chronic fatigue , with the 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

Clinic of type 1 diabetes.

During DM 1, the following phases are distinguished:

preclinical diabetes

· Manifestation or debut diabetes

Partial remission or honeymoon phase

Chronic phase of lifelong dependence on insulin

Unstable stage of the prepubertal period

Stable period observed after puberty

Preclinical diabetes can last for months or years and is diagnosed by the presence of the following:

Markers of autoimmunity against B-cells (autoantibodies to cells of the islets of Langerhans, to glutamate decarboxylase, tyrosine phosphatase, insulin). An increase in the titer of two or more types of antibodies means the risk of developing diabetes in the next 5 years, equal to 25-50%.

· Genetic markers of DM 1 (HLA).

Decrease in the 1st phase of insulin secretion (less than 10th percentile for the corresponding age and sex) during an intravenous glucose tolerance test - in this case, the risk of developing diabetes in the next 5 years is 60%.

The clinical picture of manifest type 1 diabetes has differences in age groups. The onset of the disease most often occurs on age group early puberty.

The main clinical symptoms of diabetes are:

- polyuria

Polydipsia

Polyphagia

Weight loss

Night polydipsia, urinary incontinence should be alarming. These symptoms are a reflection of compensatory processes and contribute to the reduction of hyperglycemia and hyperosmolarity. Increased appetite occurs due to impaired glucose utilization by cells and energy starvation. There may be a manifestation of the disease with pseudo-abdominal syndrome. All of the above causes the manifestation of diabetes to proceed under various masks that make diagnosis difficult and require careful differentiation. Diabetic flush is a consequence of paretic expansion of capillaries against the background of severe hyperglycemia and is observed, as a rule, in children with severe ketosis. Icteric staining of the skin of the palms, soles, nasolabial triangle (xanthosis), observed in some patients, is associated with a violation of the conversion of carotene to vitamin A in the liver and its deposition in the subcutaneous tissue. In some patients, the disease may debut with a rare skin lesion - lipoid necrobiosis, which is more often localized on the outer surface of the legs, but can be located anywhere.

In young children, type 1 diabetes has its own characteristics. According to a number of authors, 2 variants of the onset of diabetes in infants can be distinguished. In some, the disease develops suddenly according to the type of toxic-septic condition. Sharp dehydration, vomiting, intoxication quickly lead to a diabetic coma. In another group of children, the symptoms increase more slowly. Dystrophy gradually progresses, despite a good appetite, children are restless and calm down after drinking, have long-lasting, despite good care, diaper rash. Sticky spots remain on the diapers, and the diapers themselves, after the urine dries, resemble starched ones.

In children of the first 5 years of life, DM is also characterized by a more acute and severe manifestation compared to older patients. These patients are more likely to develop ketoacidosis, more low level C-peptide, and in general faster depletion of endogenous insulin secretion and less chance of partial and complete remission on early dates diseases.

In anamnesis, patients with DM may have furunculosis, itching of the external genitalia and skin. Spontaneous hypoglycemia may occur several years before the onset of diabetes. They are usually not accompanied by convulsions and loss of consciousness; they occur against the background of physical activity; the child has a desire to eat sweet foods.

Oh man, I don't even know where to start. I never thought I'd be in this situation. Two years ago, I really wanted to get pregnant, but it didn’t work out. I went through doctors, ultrasound, hormone tests - in the end they said that I had severe ovarian dysfunction, there was no question of pregnancy. I was worried, but not much. After all, I have three daughters.
All two years she was regularly checked by a gynecologist, did an ultrasound. The last time was in February 2017. Then they couldn’t even find one ovary in me, they said that almost menopause was starting. In March, I was offered a job that I had been waiting for three years. I was delighted - and the salary is good, and the position. And in April, menstruation did not come. Well delay and delay. Moreover, I have a cycle Last year was from 24 to 27 days. On the 29th day I could not stand it - I did a test, Two strips

I could not believe it for a long time, I bought a few more - two strips. Joy and shock (what can I say at work?). Went to get hcg. He confirmed - pregnancy 4 weeks. Up to 8 weeks she lived in a frenzy. I took a test for hCG every week, I was afraid of an ectopic (ultrasound at 5 weeks refuted my experiences), I was afraid of frozen. At 8 weeks I did another ultrasound, listened to the baby's heartbeat, everything is normal - I calmed down. And at 12 weeks the first screening. Ultrasound is normal, the blood came on Thursday is bad, the risk of diabetes is 1:43. On Friday I already visited the geneticist, she insists on a plantopuncture. Booked for July 11th. God I'm so scared!!! I'm not so much afraid of the procedure as its result.
In my life, I did not have abortions, I did not have miscarriages, but what is there - I did not even give birth myself. I just don't see how I can go to IR if everything is confirmed. I try to control myself, but sometimes it just covers my head. I have a feeling that the verdict has already been read and the ax has already been raised over me.
I didn't write about tests. I have hCG 1.158 MoM (37.9 IU), and PAPP - 0.222 MoM (0.837 IU). TVP 1.91 mm, KTR 73.3 mm.
I just ask for prayers and support, I don’t know how to live up to the results. I want to do another ultrasound this week, although everyone says that it is no longer informative at 15 weeks.

RS: Girls, thank you all for your support. Was now on another ultrasound paid. The doctor looked for a long time and said that according to the ultrasound, she does not see any malformations at all, including those that are typical for children with DM. I know that ultrasound cannot guarantee 100% absence of genetic disorders, but still a little easier on the soul. She asked about a puncture. The doctor said that the uterus is not in good shape, the neck is of good length, that is, there are no contraindications, if I still decide to go for a puncture. And yes, I have a boy on ultrasound. Now I will think about the puncture.

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 you never received an answer to the question: “Where did type 1 diabetes come from, if there was no one in the family with this disease?”, 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 new person already born with a pathology or 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? Why did children and adults die in 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 mothers 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.
• Protein Exclusion cow's milk 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, with varying degrees of anxiety and “indifference”. 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 positive result? 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