Risk factors for developing diabetes mellitus. High risk of Down syndrome, analysis and screening

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 of type 1 diabetes (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, two variants of the onset of diabetes in infants can be distinguished. 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. These patients are more likely to develop ketoacidosis, lower C-peptide levels, and generally more rapidly deplete endogenous insulin secretion and are less likely to experience partial or 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 a serious, serious disease. Beach modern society. Every year, there are more and more cases of this disease being detected, and the saddest thing is that it also affects children.

There are two types: diabetes type 1 and type 2. Type 2 diabetes mostly affects older people or those who are overweight. Their main treatment is rational nutrition and little physical activity.

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

In type 1 diabetes, the pancreas slowly “depletes itself”, insulin production decreases, glucose enters the blood large quantities and part of it comes out through human urine.

Doctors need to test the blood for glucose and urine to make a diagnosis. The appearance of type 1 diabetes mellitus has certain prerequisites or, more simply put, factors that influence 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 there is 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. At initial stages obesity, the risk of developing the disease increases three to five times, and with the third or fourth degree, it increases by 10-30 times.
Vascular atherosclerosis, hypertension. Surgical treatment or surgical intervention will help avoid complications.
Pancreatitis. At chronic pancreatitis, which lasts for a long time in the body, serious, irreversible changes pancreatic tissues, which also affect the insulin apparatus.
Endocrine diseases of various nature inhibit insulin production and trigger the pathological process.
Heart diseases. With this pathology, doctors recommend strictly monitoring blood sugar and adjusting to correct image life.
Bad ecology. Complex ecological situation, the spread of viruses (varicella, mumps, rubella) to a weakened body disrupts immune system and in the end, lead to this disease.
Place of residence. In Sweden and Finland people get sick much more often than in other countries.
Race. Latin Americans and representatives of Asian countries have fewer cases than Europeans.
Diet. Early feeding with breast milk, cereals infant, pediatricians call vitamin D deficiency another additional risk factor for the phenomenon.
Late labor, preeclampsia (complications during pregnancy).
Antibodies in the blood against islet cells. If, except hereditary factor, these antibodies are present in a person’s blood, then the chances of getting it will be greater.
Multiple sclerosis, anemia, may be additional factors development of the disease.
Stress, long-term depression. Blood sugar increases greatly with prolonged severe stress, and At some point the body cannot cope with such a load.
Vaccinations in childhood can lead to type 1 diabetes.

Video: Risk factors for developing diabetes mellitus

Unfortunately, there is no complete cure for diabetes. The main treatment is insulin therapy. Many traditional healers It is recommended to engage in special gymnastics, which consists of pole vaulting, running, long jumps, and promotes optimal removal of carbohydrates from the body. And of course, it is necessary to establish proper nutrition.

Unfortunately, still obvious reasons appearance was not detected, but if it is detected on early stages and, knowing all the risk factors for its occurrence, in the future, you can avoid complications or even the disease itself.

Sincerely,

Genetics of diabetes mellitus

Prediction of type 1 diabetes in groups high risk

T.V. Nikonova, I.I. Dedov, J.I.P. Alekseev, M.N. Boldyreva, O.M. Smirnova, I.V. Dubinkin*.

Endocrinological science Center I (director - academician of RAMS I.I. Dedov) RAMS, I *SSC “Institute of Immunology” I (director - academician of RAMS R.M. Khaitov) M3 RF, Moscow. I

Currently, there is an increase in the incidence of type 1 diabetes throughout the world. This is due to a number of factors, including an increase in the life expectancy of patients with diabetes due to improved diagnostic and medical care, increased fertility and deterioration environmental situations. The incidence of diabetes can be reduced by preventive measures, predicting and preventing the development of the disease.

Predisposition to type 1 diabetes is genetically determined. The incidence of type 1 diabetes is controlled by a number of genes: the insulin gene on chromosome 11p15.5 (YOM2), genes on the chromosome \\ts (YOM4), 6ts (YOM5). Highest value of the famous genetic markers Type 1 diabetes has the genes of the HLA region on chromosome 6p 21.3 (SHOM1); up to 40% of the genetic predisposition to type 1 diabetes is associated with them. No other genetic region determines the risk of developing the disease comparable to HLA.

A high risk of developing type 1 diabetes is determined by allelic variants of the HLA genes: OYAB1*03,*04; OOA1 *0501 ,*0301, OOB1*0201, *0302 . 95% of patients with type 1 diabetes have OT*3 or 011*4 antigens, and from 55 to 60% have both antigens. The OOB1*0602 allele is rare in type 1 diabetes and is considered protective.

Clinical manifestations of diabetes are preceded by a latent period, characterized by the presence of islet markers. cellular immunity; these markers are associated with progressive destruction.

Thus, for family members with a history of type 1 diabetes, disease prognosis is especially important.

The purpose of this work was to form groups at high risk of developing type 1 diabetes in the Russian population of Moscow residents based on the study of genetic, immunological and metabolic markers of diabetes using a family approach.

Materials and research methods

We examined 26 families in which one of the parents has type 1 diabetes, of which 5 were “nuclear” families (101 people in total). The number of family members surveyed ranged from 3 to 10 people. There were 13 fathers with type 1 diabetes, and 13 mothers with type 1 diabetes. There were no families in which both parents had type 1 diabetes.

37 descendants of patients with type 1 diabetes without clinical manifestations diseases, of which 16 were female, 21 were male. The age of the examined offspring ranged from 5 to 30 years. The distribution of examined offspring by age is presented in Table. 1.

Table 1

Age of examined children (descendants)

Age (years) Number

In families with diabetic mothers, 17 children (8 girls, 9 boys) were examined, in families with diabetic fathers - 20 children (8 girls, 12 boys).

Autoantibodies to (3-cells (ICA) were determined in two ways: 1) on cryosections of the human pancreas of blood group I (0) in an indirect immunofluorescence reaction; 2) in the immunoenzyme test “ISLETTEST” from “Biomerica”. Insulin autoantibodies (IAA) were determined using the ISLETTEST immunoassay test from Biomerica. Determination of antibodies to GDA was carried out using standard “Diaplets anti-GAD” kits from Boehringer Mannheim.

The determination of C-peptide was carried out using standard kits from Sorrin (France).

HLA typing of patients with diabetes and their family members was performed for three genes: DRB1, DQA1 and DQB1 using sequence-specific primers using polymerase chain reaction(PCR).

Isolation of DNA from lymphocytes peripheral blood carried out according to the method of R. Higuchi N. Erlich (1989) with some modifications: 0.5 ml of blood taken with EDTA was mixed in 1.5 ml Eppendorf microcentrifuge tubes with 0.5 ml of lysis solution consisting of 0. 32 M sucrose, 10 mM Tris - HC1 pH 7.5, 5 mM MgC12, 1% Triton X-100, centrifuged for 1 min at 10,000 rpm, the supernatant was removed, and the cell nucleus pellets were washed 2 times with the indicated buffer. Subsequent proteolysis was carried out in 50 μl of a buffer solution containing 50 mM KCI, 10 mM Tris-HC1 pH 8.3, 2.5 mM MgCI2, 0.45% NP-40, 0.45% Tween-20 and 250 μg/ml proteinase K at 37°C for 20 minutes. Proteinase K was inactivated by heating in a solid-state thermostat at 95°C for 5 min. The resulting DNA samples were immediately used for typing or stored at -20°C. The DNA concentration determined by

fluorescence with Hoechst 33258 on a DNA fluorimeter (Hoefer, USA) averaged 50-100 μg/ml. Total time DNA extraction procedure lasted 30-40 minutes.

PCR was carried out in a 10 μl reaction mixture containing 1 μl of DNA sample and the following concentrations of the remaining components: 0.2 mM each dNTP (dATP, dCTP, dTTP and dGTP), 67 mM Tris-HCl pH=8.8, 2.5 mM MgC12 , 50 mM NaCl, 0.1 mg/ml gelatin, 1 mM 2-mercaptoethanol, and 1 unit of thermostable DNA polymerase. To prevent changes in the concentrations of the components of the reaction mixture due to the formation of condensate, the reaction mixture was covered with 20 μl of mineral oil (Sigma, USA).

Amplification was carried out on a multichannel thermal cycler "MS2" (JSC DNA-Technology, Moscow).

Typing of the DRB1 locus was carried out in 2 stages. During the 1st round, genomic DNA was amplified in two different tubes; in the 1st tube a pair of primers was used that amplified all known alleles of the DRB1 gene, in the 2nd tube a pair of primers was used that amplified only alleles included in the groups DR3, DR5, DR6, DR8. In both cases temperature regime amplification (for the “MC2” thermal cycler with active regulation) was as follows: 1) 94°C - 1 min.; 2) 94°С - 20 s (7 cycles), 67°С - 2 s; 92“C - 1 s (28 cycles); 65°C - 2 s.

The resulting products were diluted 10 times and used in the 2nd round at the following temperature conditions: 92°C - 1 s (15 cycles); 64°C - 1 s.

Typing of the DQA1 locus was carried out in 2 stages. At the 1st stage, a pair of primers was used, amplifying all specificities of the DQA1 locus; at the 2nd stage, pairs of primers were used, amplifying the specificities *0101, *0102, *0103, *0201, *0301, *0401, *0501, *0601 .

The first stage was carried out according to the program: 94 “C - 1 minute; 94°C - 20 s (7 cycles), 58"C - 5 s; 92"C - 1 s, 5 s (28 cycles), 56"C - 2 s.

The amplification products of the 1st stage were diluted 10 times and used at the 2nd stage: 93“C - 1 s (12 cycles), 62“C - 2 s.

Typing of the DQB1 locus was also carried out in 2 stages; on the 1st, a pair of primers was used that amplified all the specificities of the DQB1 locus, the temperature regime was as follows: 94°C - 1 min.; 94°C - 20 s. (7 cycles); 67°C - 5 s.; 93°C - 1 s (28 cycles); 65HP - 2 s.

At the 2nd stage, primer pairs were used that amplified specificities: *0201, *0301, *0302, *0303, *0304, *0305, *04, *0501, *0502, *0503, *0601, *0602/ 08; The products of the 1st stage were diluted 10 times and amplification was carried out in the following mode: 93°C - 1 s. (12 cycles); 67°C - 2 s.

Identification of amplification products and their distribution by length was carried out in ultraviolet light(310 nm) after electrophoresis for 15 min in either 10% PAGE, 29:1 at 500 V, or in 3% agarose gel at 300 V (in both cases, the run was 3-4 cm) and staining with ethidium bromide. Digest of plasmid pUC19 with Msp I restriction enzyme was used as a length marker.

Results and its discussion

It was found that in 26 families of 26 parents with type 1 diabetes, 23 people (88.5%) are carriers of the HLA genotypes associated with type 1 diabetes DRB1 *03- DQA1 *0501 - DQB1 *0201; DRB1 *04-DQAl *0301-DQB 1*0302 or their combinations (Table 2). In 2 patients, the genotype contains the DQB 1*0201 allele, associated with type 1 diabetes; only 1 patient in this group had the DRB1 *01 /01 genotype, which

Distribution of genotypes among parents with type 1 diabetes

01?B 1 4/4 2 E1?B 1 - -

Total 23 (88.5%) Total 3

0I?B1-POAI-ROI haplotypes found in the examined individuals

oigvi oaii rovi

which was not associated with type 1 diabetes in population studies, we did not distinguish subtypes of OK B1 *04, although polymorphism of this locus may affect the risk of developing type 1 diabetes.

When genotyping the direct descendants of patients with type 1 diabetes, it was revealed that out of 37 people, 30 (81%) inherited the genotypes OYAV1*03, 011B1*04 and their combination associated with type 1 diabetes; 3 individuals had alleles associated with type 1 diabetes in their genotype : in 1 - TOA 1*0501, in 2 patients - TOA 1*0201. A total of 4 out of 37 subjects had a neutral genotype in relation to type 1 diabetes.

The distribution of offspring genotypes is shown in Table. 3. A number of studies have noted that fathers with type 1 diabetes are more likely to pass on a genetic predisposition.

susceptibility to diabetes (in particular, HLA-01*4 geno-types) in their children than in their mothers. However, a study in the UK did not confirm a significant effect of parental gender on HLA-dependent predisposition in children. In our work, we also cannot note a similar pattern of transmission of genetic predisposition: 94% of children inherited HLA genotypes associated with type 1 diabetes from sick mothers and 85% from sick fathers.

DM is known to be a multigene, multifactorial disease. As factors external environment, playing the role of a trigger, nutrition is considered - consumption in infancy And early childhood proteins cow's milk. De-

Table 3

Distribution of genotypes among children whose parents have type 1 diabetes

Genotypes associated with type 1 diabetes Number of carriers Genotypes not associated with type 1 diabetes Number of carriers

0!*B 1 4/4 4 01*B 1 1/15 1

Total 30 (81%) Total 7 (19%)

those with newly diagnosed diabetes have elevated levels antibodies to cow's milk protein, p-lactoglobulin and bovine serum albumin compared to healthy siblings, which is regarded as an independent risk factor for the development of diabetes.

In the group of 37 children examined, only 4 were at breastfeeding up to 1 year, 26 people received breast milk up to 1.5-3 months, 4 - up to 6 months, 3 were on formula milk from the first weeks of life. Of the 5 children with positive antibodies to β-cells, 2 were breastfed for up to 6 months, 3 for up to 1.5 - 3 months; then kefir and milk mixtures were obtained. Thus, 89% of the examined children received cow's milk proteins in infancy and early childhood, which can be regarded as a risk factor for the development of diabetes in genetically predisposed individuals.

In the examined families, clinically healthy offspring were assessed for cytoplasmic antibodies, autoantibodies to insulin and HDK. Of the 37 examined, 5 children turned out to be positive for the presence of antibodies to β-cells, while all 5 are carriers of a genetic predisposition to diabetes (Table 4). 3 of them (8%) had antibodies to HDK, 1 - to ACTC, 1 - antibodies to ACTC

Table 4

Genotypes of children positive for antibodies to (3-cells

Genotype Number of antibody positive

and insulin. Thus, 5.4% of children have antibodies to ACTC; 2 children with positive antibodies to HDC are descendants of “nuclear” families. The age of the children at the time of detection of antibodies is indicated in Table. 5. To predict diabetes great importance have ACTC titer levels: the higher the antibody titer, the more likely development of diabetes, the same applies to antibodies to insulin. According to the literature, high levels antibodies to HDK are associated with a slower rate of development of diabetes (10% at 4 years) than low levels(50% at 4 years), possibly because high levels of anti-HDC antibodies indicate “preferential” activation humoral immunity and to a lesser extent on the activation of cell-mediated

Table 5

Age of examined children at the time of detection of antibodies

Age of children examined (years) Number of children positive for antibodies

bathed immunity (type 1 diabetes is mainly caused by cell-mediated destruction of β-cells cytotoxic T lymphocytes). A combination of different antibodies provides the most optimal level of prediction.

Children with low birth weight (less than 2.5 kg) develop diabetes much earlier than children born with normal weight. From the anamnesis data, it is noteworthy that out of 5 children with positive antibodies, 2 were born with a body weight of more than 4 kg, 2 - less than 2.9 kg.

In direct descendants of patients with type 1 diabetes, the basal level of C-peptide was determined; in all of them this indicator was within the normal range (including children with positive antibodies to P-cells); a study of the level of stimulated C-peptide was not carried out.

1. Patients with type 1 diabetes in 88.5% of cases are carriers of the genotypes OYAVROZ, OOA1*0501, BOV1*0201, OYAV1*04, BOA1*0301, EOV1*0302, or their combinations.

2. In children from families where one of the parents has type 1 diabetes, in 89% of cases a genetic predisposition to diabetes is detected (in the presence of one sick parent), while 81% inherit genotypes completely associated with type 1 diabetes, which allows them to be considered group at very high risk of developing diabetes.

3. Among the direct descendants of patients with type 1 diabetes who have a genetic predisposition, positive antibodies to HDC were detected in 8% of cases, and ACTC - in 5.4% of cases. These children need diagnostic test antibody titers, glycohemoglobin and study of insulin secretion.

*1 iteration

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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 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