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

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, in tears, on cotton feet arrived, took all the papers. Risk 1:53. The next day I went to the 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 gave out 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 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’ve been taking it 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 recent times 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. 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

Family ties in relation to the proband with DM 1	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
Maternal 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
The presence of diabetes in a brother / sister and one of the parents
Two siblings and two parents with diabetes
Overall for the population	0,2-0,4

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 lifelong dependency 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 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%.

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

Main clinical symptoms diabetes are:

- polyuria

Polydipsia

Polyphagia

Weight loss

Night polydipsia, urinary incontinence should be alarming. These symptoms are a reflection compensatory processes and contribute to the reduction of hyperglycemia and hyperosmolarity. increased appetite occurs as a result of a violation of the utilization of glucose 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 under various masks that complicate diagnosis 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 subcutaneous tissue. In some patients, the disease may debut with a rare skin lesion - necrobiosis lipoidis, which is more often localized on outer surface shins, but can be anywhere.

In children early age Type 1 diabetes has its own characteristics. According to a number of authors, 2 variants of the onset of DM in children can be distinguished infancy. In some, the disease develops suddenly according to the type of toxic-septic condition. Severe dehydration, vomiting, intoxication quickly lead to diabetic coma. In another group of children, the symptoms increase more slowly. Gradually progresses dystrophy, 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.

Diabetes mellitus is complex disease which is difficult to treat. With its development in the body, there is a violation of carbohydrate metabolism and a decrease in the synthesis of insulin by the pancreas, 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, which begins to develop this disease, scientists have not yet been able to establish. But they have identified risk factors for diabetes that can trigger the onset of this disease in both the elderly and young 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, which enters the body with food, does not undergo cleavage 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 cells of the body lose sensitivity to insulin. Against this background, glucose simply ceases to be transported into the cells and settles in the blood.

But no matter what processes occur in diabetes mellitus, the result of this disease is the same - a high level 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 the normal range (over 7 mmol / l);
hypoglycemia - a decrease in blood glucose levels beyond the normal range (below 3.3 mmol / l);
hyperglycemic coma - an increase in blood sugar levels over 30 mmol / l;
hypoglycemic coma - a decrease in blood glucose below 2.1 mmol / l;
diabetic foot - decreased sensation lower extremities and their deformation
- decreased visual acuity;
thrombophlebitis - the formation of plaques in the walls of blood vessels;
hypertension - increased blood pressure;
gangrene - necrosis of the tissues of the lower extremities with the subsequent development of an abscess;
stroke and myocardial infarction.

Common complications of diabetes

These are far from all the complications that the development of diabetes mellitus is fraught with for a person at any age. And in order to prevent this disease, it is necessary to know exactly what factors can provoke the onset of diabetes and what measures are included in the prevention of its development.

Type 1 diabetes and its risk factors

Type 1 diabetes mellitus (DM1) is most commonly 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;
malnutrition;
frequent stress.

In the occurrence of DM1, the main role is played by hereditary predisposition. If one of the family members suffers from this disease, then the risks of its development in the next generation are approximately 10-20%.

It should be noted, however, that in this case we are talking not about established fact, but about predisposition. That is, if a mother or father has type 1 diabetes, this does not mean at all that their children will also be diagnosed with this disease. Predisposition says that if a person does not conduct preventive actions and will lead the wrong way life, then he has big risks become diabetic within a few years.

When diagnosing diabetes in both parents at once, the risks of developing the disease in their children increase several times.

However, in this case, it must be borne in mind that if both parents suffer from diabetes at once, then the likelihood of their child developing it is significantly increased. And it is often in such situations that this disease is diagnosed in children as early as school age although they do not yet have bad habits and lead active image life.

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

Viral diseases

Viral diseases are another reason why type 1 diabetes can develop. Especially dangerous in this case are diseases such as parotitis and rubella. Scientists have long been proven that these diseases adversely affect the work 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 children already born, but also to those who are still in the womb. Any viral diseases that a pregnant woman suffers can trigger the development of type 1 diabetes in her child.

Body intoxication

Many people work in factories and enterprises where chemical substances, the action of which negatively affects the work of the whole organism, including the functionality of the pancreas.

Chemotherapy, which is carried out to treat various oncological diseases, also have a toxic effect on the cells of the body, so their implementation also several times increases the likelihood of developing type 1 diabetes in humans.

Improper nutrition

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

Improper nutrition is dangerous not only for the development of obesity, but also for the violation of the pancreas

It should also be noted that due to malnutrition, DM1 can also develop in children aged 1-2 years. And the reason for this is the early introduction into the diet of the baby cow's milk and cereal crops.

Frequent stress

Stress is a trigger various diseases, including CD1. If a person is stressed, a lot of adrenaline is produced in his body, which contributes to the rapid processing of sugar in the blood, resulting in hypoglycemia. This condition is temporary, but if it occurs systematically, the risks of T1DM increase several times.

Type 2 diabetes and its risk factors

As mentioned above, type 2 diabetes mellitus (DM2) develops as a result of a decrease in cell sensitivity to insulin. This can also happen for several reasons:

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

hereditary predisposition

In the development of DM2, hereditary predisposition plays an even greater role than in DM1. As statistics show, the risks of this disease in offspring in this case are 50% if DM2 was diagnosed only in the mother, and 80% if this disease was detected in both parents at once.

When DM2 is detected in parents, the probability of having a sick child is significantly higher than in DM1

Age-related changes in the body

Doctors consider DM2 a disease of the elderly, since it is in them that it is detected most often. 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, with age, many people develop hypertension, which further increases the risk of developing type 2 diabetes.

Important! In view of all this, doctors highly recommend to all people over 50 years old, regardless of general well-being and gender, regularly take tests to determine the level of sugar in the blood. And in case of detection of any deviations, immediately begin treatment.

Obesity is the leading cause of T2DM in both older and younger people. The reason for this is the excessive 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, the cells stop absorbing glucose, and it settles in the blood. And if a person in the presence overweight body also leads passive image life, this further increases the likelihood of developing type 2 diabetes at any age.

Obesity provokes the appearance of not only type 2 diabetes, but also other health problems

Gestational diabetes

Gestational diabetes is also referred to as gestational diabetes because it develops during pregnancy. Its occurrence is due hormonal disorders in the body and excessive activity of the pancreas (she has to work for "two"). because of increased loads it wears out and stops producing insulin in the right quantities.

After childbirth, this disease disappears, but leaves a serious mark on the health of the child. Due to the fact that the mother's pancreas stops producing insulin in the right amount, the baby's pancreas begins to work in an accelerated mode, 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 type 2 diabetes.

Prevention

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

Proper nutrition. Human nutrition should include many vitamins, minerals and proteins. Fats and carbohydrates must also be present in the diet, because without them the body cannot function normally, but in moderate amounts. You should especially beware of easily digestible carbohydrates and trans fats, since they are the main cause of overweight and further development SD. Concerning infants, then parents should make sure that the introduced complementary foods are as useful as possible for their body. And what and in which month you can give the baby, you can find out from the pediatrician.
Active lifestyle. If you neglect sports and lead a passive lifestyle, you can also easily "earn" SD. Human activity contributes to the rapid burning of fats and energy consumption, resulting in an increased need for cells to glucose. At passive people the metabolism slows down, as a result of which the risks of developing diabetes increase.
Regularly monitor blood sugar levels. This rule applies especially to those who have hereditary predisposition to this disease, and people who "knocked" 50 years. To monitor blood sugar levels, it is not at all necessary to constantly go to the clinic and take tests. It is enough just 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, it is necessary to constantly take medications and inject insulin. Therefore, if you do not want to always be in fear for your health, lead healthy lifestyle of life and promptly treat the diseases that arise in you. 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 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. Thanks.

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 increased value HCG, since the rest of the examination 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? Thanks

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 a KTR of the fetus (coccyx-parietal size) not higher than 84 mm, later than this period or more high rates KTR results of the study are no longer 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, a sharply increased hCG level, please specify, did you take 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
Set a threshold risk, what to do?
I am 39 years old, second child, ultrasound at 21.3 weeks. without deviation

Dear Oksana, biochemical indicators screening - completely normal. If according to the results 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 maximum 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, you do not need to repeat the examination. Learn more about deciphering results biochemical screening second trimester of pregnancy, you can read in our health information section on this method diagnostics, 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 me nor my husband congenital pathologies no. I would be very grateful for an answer.

Unfortunately, when assessing risk chromosomal abnormalities are guided not only by IOM indicators, but 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 I take a blood test for antibodies? 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

Down syndrome is not a disease, it is a pathology that cannot be prevented and cured. A fetus with Down syndrome has a third extra chromosome in the 21st pair of chromosomes, as a result, their number is not 46, but 47. Down syndrome occurs in one in 600-1000 newborns from women over the age of 35. The reason why this happens , has not been fully elucidated. The English physician John Langdon Down first described the syndrome in 1866, and in 1959 the French professor Lejeune proved that it was due to genetic changes.

It is known that children receive half of the chromosomes from the mother, and half from the father. Since there is none effective method treatment of Down syndrome, the disease is considered incurable, you can take measures and, if you wish to give birth to a healthy child, contact a medical genetic consultation, where, based on the chromosomal analysis of the parents, it will be determined whether the child will be born healthy or with Down syndrome.

Recently, such children are born more often, they associate this with late marriage, with pregnancy planning at the age of 40. It is also believed that if a grandmother gave birth to her daughter after 35, then grandchildren can be born with Down syndrome. Although prenatal diagnosis is difficult process examination, its conduct is very necessary in order to be able to terminate the pregnancy.

What is Down Syndrome. It can usually be accompanied by a delay in motor development. Such children have birth defects heart, pathology of organ development gastrointestinal tract. 8% of patients with Down syndrome have leukemia. Medical treatment can stimulate mental activity, normalize hormonal imbalance. With the help of physiotherapy procedures, massage, therapeutic gymnastics You can help your child acquire the skills necessary for self-care. Down syndrome is associated with genetic disorder, but this does not always lead to a violation of the physical and mental development child. Such children, and in the future adults, can participate in all spheres of life, some of them become actors, athletes and can be involved in public affairs. How a person with this diagnosis will develop depends largely on the environment in which he grows up. Good conditions, love and care contribute to the full development.

Down syndrome risk table, by age

The likelihood of Down syndrome depends on the age of the mother, but it can be detected genetic test on the early stages pregnancy, and in some cases by ultrasound. The chance of a baby having Down's syndrome at birth is lower than at earlier stages of pregnancy. some fetuses with Down syndrome do not survive.

What risk is considered low and what is considered high?

In Israel, the risk of Down syndrome is considered high if it is higher than 1:380 (0.26%). Everyone in this risk group needs to be screened. amniotic fluid. This risk equates to that of women who become pregnant at age 35 or older.

Risk lower than 1:380 is considered low.

But keep in mind that these borders can be floating! So, for example, in England, high level risk is considered to be risk above 1:200 (0.5%). This is due to the fact that some women consider the risk of 1 in 1000 as high, and others 1 in 100 as low, since with such a risk they have a chance of giving birth healthy child is equal to 99%.

Risk factors for Down syndrome, Edwards, Patau

The main risk factors are age (particularly significant for Down syndrome), as well as exposure to radiation, some heavy metals. It should be borne in mind that even without risk factors, the fetus may have a pathology.

As can be seen from the graph, the dependence of the risk value on age is most significant for Down syndrome, and less significant for the other two trisomies:

Down Syndrome Risk Screening

To date, all pregnant women, in addition to relying tests, are recommended to undergo a screening test to identify the risk of Down syndrome for childbirth and congenital malformations of the fetus. The most productive examination is at week 11 + 1 day or at week 13 + 6 days with the coccyx-parietal size of the embryo from 45 mm to 84 mm. A pregnant woman can be examined, and use a specific ultrasound for this.

More accurate diagnosis is set using a biopsy of the chorionic villi and research amniotic fluid, which is taken with a special needle directly from amniotic sac. But every woman should know that such methods are associated with the risk of pregnancy complications such as miscarriage, infection of the fetus, development of hearing loss in the child, and much more.

Full combined screening of the I-II trimester of pregnancy allows you to identify congenital malformations in the fetus. What does it include given test? First, it is necessary ultrasound procedure at 10-13 weeks of gestation. The risk is calculated by determining the presence of the nasal bone, by the width of the cervical fold of the fetus, where subcutaneous fluid accumulates in the first trimester of pregnancy.

Second, a blood test is taken chorionic gonadotropin at 10-13 weeks and on AFP at 16-18 weeks. Combined screening data are processed using a special computer program. Scientists have proposed a new screening technique - combining the evaluation of the results obtained in the course of research in the first and second trimesters. This allows for a unified assessment of the risk of Down syndrome during pregnancy.

For the first trimester, the results of determining PAPP-A and measuring the thickness of the collar space are used, and for the second trimester, combinations of AFP, unconjugated estriol, hCG and inhibin-A are used. The use of an integral assessment for screening examination allows, after invasive interventions, to reduce the frequency of abortion for fetuses with a normal karyotype based on the results of cytogenetic diagnostics.

Integral and biochemical testing for the screening of Down's syndrome allows you to additionally identify more cases chromosomal abnormalities. This helps prevent unwanted abortions resulting from amniocentesis or chorionic villus sampling.

Expert editor: Mochalov Pavel Alexandrovich| MD general practitioner

Education: Moscow medical institute them. I. M. Sechenov, specialty - "Medicine" in 1991, in 1993 " Occupational diseases", in 1996 "Therapy".