Combined risk of diabetes 1 272. High risk of Down syndrome, analysis and screening

Hi all! Girls who have been in similar situations, please respond! On May 27th I had my first screening. The ultrasound showed everything was normal. They wrote down the phone number just in case, but I didn’t expect that they might call me back, and then a week later I got a call - come for a referral to the Center for Psychological Surveillance, you are at high risk. I don’t remember myself, in tears, on wobbly legs I arrived and took all the papers. Risk 1:53. The next day I went for further examination. The ultrasound specialist looked at both the abdomen and vagina for a very long time, turned on the Doppler several times, and everything seemed to be fine, but he didn’t like DOPPLER METRY OF THE TRISCUPID VALVE: REGURGITATION. I entered the new ultrasound data into the program and the screening results from a week ago, the computer showed a diabetes risk of 1:6. I sent him to a geneticist. After looking at the conclusion, she explained to me that this regurgitation could simply be a feature of the fetus, but coupled with an underestimated PAPP-A indicator - 0.232 MoM, this is a marker of chromosomal abnormalities. Everything else is within normal limits. They suggested undergoing a chorionic villus biopsy. I refused for now, the nurse almost fell out of her chair, like the risk is so high and CA cannot be treated, and if she were me, she wouldn’t even think for a minute. I asked a geneticist about the Panorama analysis (a terribly expensive genetic analysis of maternal blood), she told me that of course you can do it, but it excludes only 5 main CAs and several very rare ones, it cannot completely exclude anomalies, and in my case it is recommended invasion. I’ve already read a ton of articles, questions and the like 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 stage and goes away by 18-20 weeks (if it doesn’t go away, this indicates a risk of heart defects, for many it goes away after childbirth, and some live with it and doesn’t affect anything. Moreover, the husband has prolapse mintral valve, which was inherited from my mother, maybe this is somehow connected). Hormones may not be indicative at all, because... I’ve been taking it since the beginning of pregnancy, I ate 2 hours before the test (it turns out you can’t eat 4 hours before, they didn’t tell me about it), drank coffee, was nervous and worried about the ultrasound and I’m afraid to donate blood, and Lately chronic fatigue, I’m tired with my older child. And all this affects the results. The geneticist didn’t ask anything of the kind, wasn’t interested, they actually have some kind of conveyor belt there, and it was as if they shoved me there for statistics. But they planted a bit of doubt in me, I cried and was not worried about the year ahead. My husband is trying to persuade me to have a biopsy. I am terribly afraid of the consequences, 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 should you do? Will I be able to terminate the pregnancy, allow my child to be dismembered inside me, especially now that it seems to me that I am beginning to feel him. But another option is whether I can raise a child who requires a special approach and a lot of attention, when sometimes I 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’ll give you the screening data:

Delivery period: 13 weeks

Heart rate 161 beats/min

Ductus venosus PI 1.160

Chorion/placenta low on the anterior wall

Umbilical cord 3 vessels

Fetal anatomy: 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 1:529

Preeclampsia up to 37 weeks 1:524

Family ties in relation to a proband with type 1 diabetes	Average risk, %
Brothers and sisters of the sick	4-5
Parents
Children of diabetic fathers	3,6-8,5
Children of diabetic mothers	1,1-3,6
Mother's age at birth > 25 years	1,1
Mother's age at birth< 25 лет	3,6
Children of two parents with diabetes	30-34
Monozygotic twins	30-50
Dizygotic twins
The presence of diabetes in a brother/sister and in a child from a sick parent
Presence of diabetes in a brother/sister and one of the parents
Two siblings and two parents with diabetes
Overall population	0,2-0,4

Type 1 diabetes clinic.

During type 1 diabetes, the following phases are distinguished:

· Preclinical diabetes

Manifestation or debut diabetes mellitus

Partial remission or honeymoon phase

· Chronic phase lifelong insulin dependence

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 is 25-50%.

· Genetic markers DM 1 (HLA).

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

Clinical picture manifest type 1 diabetes differs among age groups. The most common onset of the disease occurs in age group early puberty.

Main clinical symptoms diabetes are:

- polyuria

Polydipsia

Polyphagia

Weight loss

Nocturnal polydipsia and urinary incontinence should be alarming. These symptoms are a reflection compensatory processes and help reduce hyperglycemia and hyperosmolarity. Increased appetite occurs due to impaired utilization of glucose by cells and energy starvation. The disease may manifest as pseudoabdominal syndrome. All of the above determines the course of the diabetes manifestation under various masks, making diagnosis difficult and requiring careful differentiation. Diabetic flushing is a consequence of paretic dilatation of capillaries against the background of severe hyperglycemia and is observed, as a rule, in children with severe ketosis. Jaundice staining of the skin of the palms, soles, and nasolabial triangle (xanthosis), observed in some patients, is associated with a violation of the conversion of carotene into vitamin A in the liver and its deposition in subcutaneous tissue. In some patients, the disease may debut with a rare skin lesion - necrobiosis lipoidica, which is often localized on the outer surface shins, but can be located anywhere.

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

In children of the first 5 years of life, diabetes is also characterized by a more acute and severe manifestation compared to older patients. Such patients are more likely to develop ketoacidosis, more low level C-peptide, and generally more rapid depletion of endogenous insulin secretion and a lower likelihood of partial and complete remission on early stages diseases.

Patients with diabetes may have a history of 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 arise against the background physical activity; the child develops a desire to eat sweet foods.

Diabetes mellitus is complex disease, which is difficult to treat. When it develops in the body, carbohydrate metabolism is disrupted and insulin synthesis by the pancreas is reduced, as a result of which glucose ceases to be absorbed by cells and settles in the blood in the form of microcrystalline elements. Exact reasons, along which it begins to develop this disease, scientists have not yet been able to establish. But they identified risk factors for diabetes mellitus that can trigger the onset of this disease in both older and younger people.

A few words about pathology

Before considering the risk factors for developing diabetes, it must be said that this disease has two types, and each of them has its own characteristics. Type 1 diabetes is characterized by systemic changes in the body, in which not only carbohydrate metabolism, but also the functionality of the pancreas. For some reason, her cells stop producing insulin in the right amount, as a result of which sugar that enters the body along with food does not undergo breakdown processes and, accordingly, cannot be absorbed by cells.

Type 2 diabetes mellitus is a disease in which the functionality of the pancreas is preserved, but due to impaired metabolism, the body's cells lose sensitivity to insulin. Against this background, glucose simply stops being transported into cells and settles in the blood.

But no matter what processes occur during diabetes mellitus, the result of this disease is the same - high levels of glucose in the blood, which leads to serious problems with health.

The most common complications of this disease are the following conditions:

hyperglycemia – an increase in blood sugar levels beyond normal limits (over 7 mmol/l);
hypoglycemia – a decrease in blood glucose levels beyond normal limits (below 3.3 mmol/l);
hyperglycemic coma – increased blood sugar levels over 30 mmol/l;
hypoglycemic coma – a decrease in blood glucose levels below 2.1 mmol/l;
diabetic foot – decreased sensitivity lower limbs and their deformation;
– decreased visual acuity;
thrombophlebitis - the formation of plaques in the walls of blood vessels;
hypertension - increased blood pressure;
gangrene – necrosis of tissues of the lower extremities with subsequent development of an abscess;
stroke and myocardial infarction.

Common complications of diabetes

These are not all the complications that the development of diabetes mellitus poses to a person at any age. And in order to prevent this disease, it is necessary to know exactly what factors can provoke the occurrence of diabetes and what measures include prevention of its development.

Type 1 diabetes mellitus and its risk factors

Type 1 diabetes mellitus (T1DM) is most often diagnosed in children and young people aged 20-30 years. It is believed that the main factors of its development are:

viral diseases;
intoxication of the body;
poor nutrition;
frequent stress.

Hereditary predisposition plays a major role in the occurrence of T1DM. If one of the family members suffers from this disease, then the risk of its development in the next generation is approximately 10-20%.

It should be noted that in this case we're talking about not about an established fact, but about a predisposition. That is, if a mother or father has T1DM, this does not mean that their children will also be diagnosed with this disease. Predisposition says that if a person does not carry out preventive actions and will lead in the wrong way life, then he has big risks become diabetic within a few years.

When both parents are diagnosed with diabetes at once, the risk of developing the disease in their children increases several times.

However, even in this case, it is necessary to take into account that if both parents suffer from diabetes, then the likelihood of it developing in their child increases significantly. And it is often in such situations that this disease is diagnosed in children as early as school age, although they don't have yet bad habits and lead active image life.

It is believed that diabetes mellitus is most often “transmitted” through the male line. But if only the mother has diabetes, then the risks of giving birth to a baby with this disease are very low (no more than 10%).

Viral diseases

Viral diseases are another reason why T1DM can develop. Particularly dangerous in this case are diseases such as mumps and rubella. Scientists have long proven that these diseases negatively affect the functioning of the pancreas and lead to damage to its cells, thus reducing the level of insulin in the blood.

It should be noted that this applies not only to already born children, but also to those who are still in the womb. Any viral diseases that a pregnant woman suffers can trigger the development of T1DM in her child.

Intoxication of the body

Many people work in factories and businesses that use chemical substances, the action of which negatively affects the functioning of the entire body, including the functionality of the pancreas.

Chemotherapy, which is used to treat various oncological diseases, also have a toxic effect on the body’s cells, so their implementation also increases the likelihood of developing T1DM in humans several times.

Poor nutrition

Poor nutrition is one of the most common causes of T1DM. Daily diet modern man contains great amount fats and carbohydrates, which has heavy load on digestive system, including the pancreas. Over time, its cells are damaged and insulin synthesis is disrupted.

Poor nutrition is dangerous not only for the development of obesity, but also for disruption of the pancreas.

It should also be noted that due to poor nutrition, T1DM can also develop in children aged 1-2 years. And the reason for this is the early introduction into the baby’s diet. cow's milk and cereal crops.

Frequent stress

Stress is a trigger various diseases, including T1DM. If a person experiences stress, his body produces a lot of adrenaline, which promotes the rapid processing of sugar in the blood, resulting in hypoglycemia. This condition is temporary, but if it occurs systematically, the risk of developing T1DM increases several times.

Type 2 diabetes mellitus and its risk factors

As mentioned above, type 2 diabetes mellitus (T2DM) develops as a result of decreased sensitivity of cells to insulin. This can also happen for several reasons:

hereditary predisposition;
age-related changes in organism;
obesity;
gestational diabetes.

Hereditary predisposition

In the development of T2DM, hereditary predisposition plays an even greater role than in T1DM. Statistics show that the risk of developing this disease in offspring in this case is 50% if T2DM was diagnosed only in the mother, and 80% if this disease was diagnosed in both parents at once.

When parents are diagnosed with T2DM, the likelihood of having a sick child is significantly higher than with T1DM

Age-related changes in the body

Doctors consider T2DM a disease of older people, since it is in them that it is most often detected. The reason for this is age-related changes in the body. Unfortunately, with age, under the influence of internal and external factors internal organs“wear out” and their functionality is impaired. In addition, as many people age, hypertension develops, which further increases the risk of developing T2DM.

Important! In view of all this, doctors highly recommend that all people over 50 years of age, regardless of general well-being and gender, regularly take tests to determine blood sugar levels. And if any abnormalities are detected, begin treatment immediately.

Obesity is the main cause of T2DM in both older and younger people. The reason for this is the excess accumulation of fat in the cells of the body, as a result of which they begin to draw energy from it, and sugar becomes unnecessary for them. Therefore, with obesity, cells stop absorbing glucose, and it settles in the blood. And if a person is available overweight bodies also leads passive image life, this further increases the likelihood of developing T2DM at any age.

Obesity provokes the appearance of not only T2DM, but also other health problems

Gestational diabetes

Gestational diabetes is also called “pregnant diabetes” by doctors, as it develops during pregnancy. Its occurrence is due hormonal disorders in the body and excessive activity of the pancreas (it has to work for “two”). Because of increased loads it wears out and stops producing insulin in the required quantities.

After childbirth, this disease goes away, but leaves a serious mark on the child’s health. Due to the fact that the mother's pancreas stops producing insulin in the required amount, the child's pancreas begins to work at an accelerated rate, which leads to damage to its cells. In addition, with the development of gestational diabetes, the risk of obesity in the fetus increases, which also increases the risk of developing T2DM.

Prevention

Diabetes mellitus is a disease whose development can be easily prevented. To do this, it is enough to constantly carry out its prevention, which includes the following measures:

Proper nutrition. Human nutrition should include many vitamins, minerals and proteins. Fats and carbohydrates must also be present in the diet, since without them the body cannot function normally, but in moderation. You should especially beware of easily digestible carbohydrates and trans fats, since they are the main cause of excess body weight and further development SD. Concerning infants, then parents should make sure that the introduced complementary foods are as beneficial as possible for their body. You can find out what you can give your baby and in what month from your pediatrician.
Active lifestyle. If you neglect sports and lead a passive lifestyle, you can also easily “earn” diabetes. Human activity promotes rapid fat burning and energy consumption, resulting in an increased cell need for glucose. U passive people metabolism slows down, resulting in an increased risk of developing diabetes.
Monitor your blood sugar levels regularly. This rule especially applies to those who have hereditary predisposition to this disease, and people who have turned 50 years old. To monitor your blood sugar levels, it is not at all necessary to constantly go to the clinic and get tested. You just need to purchase a glucometer and conduct blood tests yourself at home.

It should be understood that diabetes is a disease that cannot be cured. As it develops, you have to constantly take medications and give insulin injections. Therefore, if you do not want to always be in fear for your health, healthy image life and promptly treat any diseases that arise. This is the only way to prevent the occurrence of diabetes and maintain your health for many years!

Nuria asks:

Hello. I am 25 years old. At 16 weeks of pregnancy, I was tested for AFP 30.70/0.99 mΩ,/ and hCG 64.50/3.00 mΩ/. Please tell me what the numbers mean. What is my probability on SD? My pregnancy is 27-28 weeks. I just found out about the screening results. At this time I was taking Duphaston. Tell me how high the risk is. Thank you.

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

Nuria asks:

Thanks for clarifying. But the center gave me a threshold risk, so I’m very worried. What other data is taken into account to identify the risk of diabetes? TVP - 1.5, DNA - 3.2. Ultrasound at 20 weeks is good. Thanks again.

Most likely, the degree of risk was calculated taking into account increased value HCG, since the rest of the examination indicators you presented are normal.

Natalya asks:

Hello. Help, please. I received the screening result and was upset. They put:
Age-related risk of diabetes 1:371
DM risk value 1:306
AFP 26.04 Mohm 0.86, HCGb 29.74 Mohm 1.87
Fully 35 years old, second pregnancy, screened at 15 weeks 6 days, with a difference - they did an ultrasound, and 2 days later they took blood.
Conclusion - threshold risk.
Tell me everything is 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 likelihood of having a child with a genetic pathology.

Natalya asks:

in addition to the previous one.
An 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, the threshold for SD was set. Should we 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 CTE of the fetus (coccygeal-parietal size) not higher than 84 mm, later than this period or at more high rates KTE results of the conducted research cease to be informative. Therefore, in your case, there is no need to worry. Your threshold risk was not determined based on an analysis of screening and ultrasound results, but based on your age.

Elena asks:

Hello! Please tell me. 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 74.53 ng/ml (1.74 MoM) PaPP-A5684.00 Mu|L (1.67 MoM) TVP 1.80 mm (1.05 MoM ) 17 weeks: AFP 32.39 IU/ml (1.16 MoM) hCG 207.00 IU/l (6.44 MoM) 2nd ultrasound will be on September 12 (21 weeks), the first at 12 weeks. 4 days no deviations were found. What actions to take? I am 34 years old and have one fetus.

The results of the second screening showed a sharp increase hCG level, please clarify whether you took any medications 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
They set a threshold risk, what to do?
I am 39 years old, second child, ultrasound at 21.3 weeks. without deviations

Dear Oksana, biochemical parameters screening - completely normal. If according to the results ultrasound diagnostics, there are no deviations - there are also no indications for invasive diagnostics. Usually, in such a situation, an expert ultrasound is performed at 22 weeks of pregnancy; for this examination, the maximum possible qualified specialist with experience in prenatal diagnosis of congenital malformations. However, if you trust the qualifications of the specialist who performed the last ultrasound at 21.3 weeks, there is no need to repeat the examination. More details about deciphering the results biochemical screening second trimester of pregnancy, you can read in our medical information section dedicated to this method diagnostics, with the same name: Screening. .

Natalya asks:

Hello! Please help me understand the results of 1 screening within 10 weeks. I am 41 years old, weight 48 kg. The first birth is coming.
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 diagnosed a high risk of Down syndrome, age-related risk 1:70, estimated risk 1:65
As far as I know, the norm limits for PTO are 0.5-2.0. Are my PTO readings not up to standard? Do I have cause for concern? Neither my family nor my husband's congenital pathologies No. I would be very grateful for your answer.

Unfortunately, when determining risk chromosomal abnormalities are guided not only by IOM indicators, but evaluate the results of all studies as a whole. If the risk turns out to be 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

Find out more on this topic:

Blood test for antibodies - detection of infectious diseases (measles, hepatitis, Helicobacter, tuberculosis, lamblia, 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 results. Where can I get a blood test for antibodies? Research price.
Biochemical blood test - norms, meaning and interpretation of indicators in men, women and children (by age). Concentration of ions (electrolytes) in the blood: potassium, sodium, chlorine, calcium, magnesium, phosphorus
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