Down syndrome birth

Facts about Down Syndrome | CDC

What is Down Syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

A flattened face, especially the bridge of the nose
Almond-shaped eyes that slant up
A short neck
Small ears
A tongue that tends to stick out of the mouth
Tiny white spots on the iris (colored part) of the eye
Small hands and feet
A single line across the palm of the hand (palmar crease)
Small pinky fingers that sometimes curve toward the thumb
Poor muscle tone or loose joints
Shorter in height as children and adults

How Many Babies are Born with Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.¹

Types of Down Syndrome

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.² With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).² This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome. ² Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Risk Factors

The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.
One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. ^3-5However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.^6,7

Diagnosis

There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e. g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

Chorionic villus sampling (CVS)—examines material from the placenta
Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.

Treatments

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Other Resources

The views of these organizations are their own and do not reflect the official position of CDC.

Down Syndrome Research Foundation (DSRF)
DSRF initiates research studies to better understand the learning styles of those with Down syndrome.
Global Down Syndrome Foundation
This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.
National Association for Down Syndrome
The National Association for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.
National Down Syndrome Society (NDSS)
NDSS seeks to increase awareness and acceptance of those with Down syndrome.

References

Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 2019; 111(18): 1420-1435.
Shin M, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A:800-1.
Allen EG, Freeman SB, Druschel C, et al. Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.
Ghosh S, Feingold E, Dey SK. Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.
Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.
Adams MM, Erickson JD, Layde PM, Oakley GP. Down’s syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60.
Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York State, 1983-1992. Prenat Diagn. 1996 Nov;16(11):991-1002.
Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.

What are Congenital Heart Defects?

Congenital heart defects (CHDs) are the most common type of birth defect. As medical care and treatment have advanced, babies with a CHD are living longer and healthier lives. Learn more facts about CHDs below.

What are Congenital Heart Defects (CHDs)?

CHDs are present at birth and can affect the structure of a baby’s heart and the way it works. They can affect how blood flows through the heart and out to the rest of the body. CHDs can vary from mild (such as a small hole in the heart) to severe (such as missing or poorly formed parts of the heart).

About 1 in 4 babies born with a heart defect has a critical CHD (also known as critical congenital heart defect).¹ Babies with a critical CHD need surgery or other procedures in the first year of life.

Piper was born with a congenital heart defect (CHD). Read her story as well as other stories from families affected by a congenital heart defect »

Types

Listed below are examples of different types of CHDs. The types marked with a star (*) are considered critical CHDs.

Atrial Septal Defect
Atrioventricular Septal Defect
Coarctation of the Aorta*
Double-outlet Right Ventricle*
d-Transposition of the Great Arteries*
Ebstein Anomaly*
Hypoplastic Left Heart Syndrome*
Interrupted Aortic Arch*
Pulmonary Atresia*
Single Ventricle*
Tetralogy of Fallot*
Total Anomalous Pulmonary Venous Return*
Tricuspid Atresia*
Truncus Arteriosus*
Ventricular Septal Defect

Signs and Symptoms

Signs and symptoms for CHDs depend on the type and severity of the particular defect. Some defects might have few or no signs or symptoms. Others might cause a baby to have the following symptoms:

Blue-tinted nails or lips
Fast or troubled breathing
Tiredness when feeding
Sleepiness

Diagnosis

Some CHDs may be diagnosed during pregnancy using a special type of ultrasound called a fetal echocardiogram, which creates ultrasound pictures of the heart of the developing baby. However, some CHDs are not detected until after birth or later in life, during childhood or adulthood. If a healthcare provider suspects a CHD may be present, the baby can get several tests (such as an echocardiogram) to confirm the diagnosis.

Treatment

Treatment for CHDs depends on the type and severity of the defect present. Some affected infants and children might need one or more surgeries to repair the heart or blood vessels. Some can be treated without surgery using a procedure called cardiac catheterization. A long tube, called a catheter, is threaded through the blood vessels into the heart, where a doctor can take measurements and pictures, do tests, or repair the problem. Sometimes the heart defect can’t be fully repaired, but these procedures can improve blood flow and the way the heart works. It is important to note that even if their heart defect has been repaired, many people with CHDs are not cured. See more information about living with a CHD below.

Causes

The causes of CHDs among most babies are unknown. Some babies have heart defects because of changes in their individual genes or chromosomes. CHDs also are thought to be caused by a combination of genes and other factors, such as things in the environment, the mother’s diet, the mother’s health conditions, or the mother’s medication use during pregnancy. For example, certain conditions a mother has, like pre-existing diabetes or obesity, have been linked to heart defects in the baby.^2,3 Smoking during pregnancy as well as taking certain medications have also been linked to heart defects.^2,3

Learn more about research on CHDs »

Living with a CHD

As medical care and treatment have advanced, infants with CHDs are living longer and healthier lives. Many children with CHDs are now living into adulthood. It is estimated that more than two million individuals in the United States are living with a CHD. Many people with a CHD lead independent lives with little or no difficulty. Others might develop disability over time. Some people with a CHD have genetic problems or other health conditions that increase their risk for disability.

Even with improved treatments, many people with a CHD are not cured, even if their heart defect has been repaired. People with a CHD can develop other health problems over time, depending on their specific heart defect, the number of heart defects they have, and the severity of their heart defect. For example, some other health problems that might develop include irregular heart beat (arrhythmias), increased risk of infection in the heart muscle (infective endocarditis), or weakness in the heart (cardiomyopathy). People with a CHD need routine checkups with a cardiologist (heart doctor) to stay as healthy as possible. They also might need further operations after initial childhood surgeries. It is important for people with a CHD to visit their doctor on a regular basis and discuss their health, including their specific heart condition, with their doctor.

Learn more about living with a CHD »

References

Oster M, Lee K, Honein M, Colarusso T, Shin M, Correa A. Temporal trends in survival for infants with critical congenital heart defects. Pediatrics. 2013;131(5):e1502-8.
Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL. Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115(23):2995-3014.
Patel SS, Burns TL. Nongenetic risk factors and congenital heart defects. Pediatr Cardiol. 2013;34(7):1535-55.

Down's syndrome

Down's syndrome is a genetic disease that causes mental retardation, delayed physical development, and congenital heart defects. In addition, it is often accompanied by impaired thyroid function, impaired hearing, and vision.

Down's syndrome is the most common disorder caused by chromosome anomalies. As the mother ages, the risk of having a child with Down syndrome increases.

There is no cure for the condition and its severity may vary.

Treatment depends on the manifestations of the disease. Although it is impossible to get rid of the syndrome itself, working with a defectologist from an early age contributes to the development of the child's mental functions.

Synonyms Russians

Trisomy on the 21st chromosome, trisomy G.

Synonyms English

Down Syndrome, Down Syndromy 21.

Symptoms 9000. there are specific facial features and structural features of the head:

small head,

wide face,

short neck, excess skin on back of neck,

short and wide nose

underdeveloped upper jaw,

light gray spots on the iris up to the 12th month of life,

epicanthus - a semilunar skin fold in the inner corner of the upper eyelid - the "third eyelid" - and, as a result, a narrow, Mongoloid incision of the eyes,

small, asymmetrical, low-attached ears,

large tongue without central groove, often open mouth,

misaligned teeth.

The following symptoms are also typical for Down syndrome patients:

low muscle tone,

disproportionate physique,

underdevelopment of sexual characteristics,

wide short palms with one crease instead of two, the thumb is placed low in relation to the other fingers,

sandal gap between the first and second toes,

relatively short, overly flexible fingers.

Children with Down syndrome usually develop more slowly than normal. They start sitting, crawling and walking about twice as late as normally developing children.

Patients also have a moderate degree of mental retardation.

General information about the disease

Down syndrome is a genetic disease caused by an abnormality of the 21st chromosome, which manifests itself in the form of mental retardation, heart defects and developmental disorders.

It is often accompanied by dysfunction of the thyroid gland, impaired hearing and vision.

There are 23 pairs of chromosomes in the human chromosome set. In this case, one chromosome from the pair comes from the mother, one from the father. There are 46 chromosomes in the body.

The cause of Down's disease is an anomaly of the 21st chromosome, which is characterized by the presence of additional copies of genetic material on the 21st chromosome in the form of a trisomy or translocation. The 21st chromosome affects almost all organ systems and is responsible for the traits and developmental features that are impaired in Down's disease.

Trisomy 21 suggests the presence of a copy of this chromosome. That is, instead of two chromosomes, the 21st pair is represented by three. Thus, in all cells of the body there are three chromosomes of the 21st pair instead of two.

Trisomy accounts for 95% of chromosome 21 anomalies. It occurs when there is a violation of cell division during the formation of germ cells (spermatozoa and eggs) of the parents. Almost always, an extra chromosome is passed on to a child with Down syndrome from the mother. As the age of the mother increases, the risk of having a child with Down syndrome increases. The older the egg, the greater the likelihood of abnormal cell division.

The mosaic variant of the syndrome occurs when only some cells of the body have an abnormal copy of the 21st chromosome. The "mosaic" of abnormal and normal cells is due to a violation of cell division after fertilization in the embryo.

Translocation of the 21st chromosome to other chromosomes (more often to the 15th or 14th). Children have two chromosome 21 pairs and extra material on chromosome 21. At the same time, part of the 21st chromosome moves to another when chromosome division is disturbed during the formation of spermatozoa and eggs of the parents (about 25% of cases of translocation) or at the time of conception (about 75% of cases).

Down's syndrome is thus caused by a defect in cell division during the development of an egg, sperm or fetus.

Down syndrome is not a hereditary disease, although there is a predisposition to its development. Women with Down syndrome have a 50% chance of having an affected child, and spontaneous miscarriage often occurs. Men with Down syndrome are infertile, except for the mosaic variant of the syndrome.

Carriers of a genetic chromosome translocation will also have an increased chance of having a child with Down syndrome. If the mother is the carrier, a child with Down syndrome is born in 10-30%, if the father is the carrier - in 5%.

Women who have a child with Down syndrome have a 1% chance of having a second child with Down syndrome.

Children with Down syndrome may experience the following complications.

Heart defects. Approximately half of children with Down syndrome are born with heart defects that may require surgery in early childhood.

Leukemia (malignant disease of the hematopoietic system). Children with Down syndrome, especially at an early age, are more likely to develop leukemia than other children.

Infectious diseases. Due to disorders of the body's immune system, children with Down syndrome are more susceptible to infectious diseases.

Dementia. After the age of 40, Down syndrome patients are at an increased risk of developing dementia.

Sleep apnea. Children with Down syndrome are prone to sleep apnea, a condition in which ventilation is interrupted for 20 to 30 seconds during sleep. In severe cases, sleep apnea can take up to 60% of a night's sleep. Regular sleep apnea leads to daytime sleepiness, memory impairment, decreased intelligence, performance and constant fatigue.

Obesity.

The life expectancy of people with Down syndrome depends on the severity of manifestations and averages 50 years or more.

Who is at risk?

Women with Down syndrome (men with Down syndrome are usually infertile).

Mothers after 30 years. With age, the risk of giving birth to a child with Down syndrome increases: by the age of 35 it is 1 in 400, by 45 - 1 in 35. However, approximately 80% of children with Down syndrome are born to mothers under 35 years old.

Fathers over 42.

Carriers of genetic translocation of chromosomes. If the mother is the carrier, the risk of having a child with Down syndrome is about 10-30%, if the father is about 5%.

Parents who already have a child with Down syndrome. The risk of having another child with this disease is approximately 1%.

Diagnosis

The diagnosis is made on the basis of a characteristic clinical picture. Newborns are tested for Down syndrome. Pregnant women are also assigned studies aimed at identifying Down syndrome in the fetus.

Down's syndrome is suspected based on the presence of features of appearance characteristic of this disease. The diagnosis is confirmed by karyotyping - a study of the child's chromosomes for abnormalities.

In addition, the functions that may be impaired in Down's syndrome are investigated - thyroid function, visual, auditory analyzers. Possible heart defects, leukemia are detected.

Thyroid stimulating hormone (TSH) is a hormone produced by the pituitary gland, a small gland located in the brain. It regulates the functioning of the thyroid gland. If its function is impaired, its level, as a rule, changes.

Thyroxine is a hormone produced by the thyroid gland and affects many types of metabolism in the body. With Down's syndrome, its level can be reduced.

Bone marrow biopsy. Examination of a bone marrow sample under a microscope reveals leukemia.

Fetal Down syndrome may be suspected by screening and ultrasound findings. All pregnant women are advised to test for alpha-fetaprotein. In addition, the examination of pregnant women involves the following tests.

First trimester of pregnancy

Human chorionic gonadotropin (hCG) is a hormone produced by the fetal membrane and is involved in maintaining pregnancy.

Pregnancy-associated plasma protein A (PAPP A). Abnormal levels of hCG and PAPP-A may indicate fetal developmental disorders.

Second trimester of pregnancy

Ultrasound examination - allows you to identify abnormalities in the development of the fetus.

Alpha-fetoprotein (alpha-FP) - its low level may indicate Down's syndrome.

Beta subunit of human chorionic gonadotropin (beta hCG). An increase in the concentration of hCG in some cases is associated with a child's illness.

Estriol free. Low estriol levels are a sign of Down syndrome.

The results of ultrasound, PAPP-A, alpha-FP, hCG and estriol, combined with data on the age and heredity of the mother, allow us to calculate the risk of having a child with Down syndrome.

These studies are especially important for women who are at risk for having children with this disease.

If the risk is found to be very high, the following tests may be performed.

Amniocentesis - taking a sample of amniotic fluid and then examining the chromosomes of the fetus.

Chorionic biopsy - obtaining a tissue sample from the chorion (the outer germinal membrane surrounding the embryo). Allows detection of chromosomal abnormalities.

Cord blood sampling - allows to detect chromosomal abnormalities. The test is performed if previous studies have been ineffective.

For women with a predisposition to the disease, genetic counseling is recommended during pregnancy planning.

Treatment

Down syndrome cannot be cured, so therapy is directed at specific manifestations of the disease.

If necessary, surgical operations are performed to treat heart defects, anomalies of the gastrointestinal tract, examination by a neurologist, cardiologist, ophthalmologist, defectologist, speech therapist, pediatrician, etc.

Early treatment will maximize the development of children with Down syndrome and improve their quality of life. Immediately after birth, it is extremely important to develop the motor, cognitive sphere of the child, his mental functions. There are special preschool and school institutions where a program has been developed for children with an appropriate level of intelligence.

Prevention

Prevention of the birth of children with Down syndrome has not been developed. People who are at risk of having a child with this disease are advised to undergo a genetic test during pregnancy planning.

Recommended tests

Human chorionic gonadotropin free beta (free beta hCG)

Plasma pregnancy-associated protein A (PAPP A)

Alpha-fetoprotein (alpha-FP)

Free estriol

Thyroid Stimulating Hormone (TSH)

Thyroxine free (T4 free)

General thyroxine (T4)

Literature

Dan L. Longo, Dennis L. Kasper, J. Larry Jameson, Anthony S. Fauci, Harrison's principles of internal medicine (18th ed.). New York: McGraw-Hill Medical Publishing Division, 2011.

Named the factors influencing the possibility of having a child with Down syndrome a child with Down syndrome - RIA Novosti, 12/13/2021

The factors influencing the possibility of having a child with Down syndrome are named

Race and socio-economic conditions do not affect the birth of a child with Down syndrome, but the age of the mother is the main risk factor, in women by 40 ... RIA Novosti, 13.12 .2021

2019-03-21T03:38

2019-03-21T03:38

2021-12-13T21:04

science

russia

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RIA Novosti, March 21 Race and socio-economic conditions do not affect the birth of a child with Down syndrome, but the age of the mother is the main risk factor, in women by the age of 40 the probability of having a child with Down syndrome increases 9 times compared to women 30 years old, RIA Novosti reported in the press service of the FBGNU "Medical Genetic Research Center". On March 21, the world annually celebrates the World Day of People with Down Syndrome - a disease resulting from a genetic anomaly in which an additional chromosome appears in the human body. -advisory department of the Federal State Scientific Institution "Medical Genetic Research Center", geneticist of the highest category, candidate of medical sciences Natalya Semenova told RIA Novosti that the prevalence of Down syndrome to some extent depends on the traditional and religious characteristics of the region. accepted, the prevalence is higher," she noted. In Russia, pregnant women we, regardless of their age, undergo prenatal screening for the detection of Down syndrome in a child, Semenova added. As an obstetrician-gynecologist of the Central Research Institute of Epidemiology of Rospotrebnadzor Arkady Kotlyar told RIA Novosti, the study is carried out at 11-12 weeks of pregnancy. A woman is given an ultrasound examination, certain points of the fetus are examined, after which the pregnant woman is tested for certain hormones, and the mathematical program calculates the probability of having a child with genetic changes. At the same time, experts clarify that this test only shows the probability of having a child with Down syndrome, but not gives an accurate answer. To date, the most effective research method is a non-invasive prenatal test - the study of fetal DNA isolated from the mother's blood, its accuracy is 97-99%, the press service of the center noted. The analysis can be carried out already from the 9th week of pregnancy, but so far only at their own expense, the press service added. At the same time, the number of children with Down syndrome has not changed after the opportunity arose identify it during early pregnancy, Semenova emphasized. At the same time, the life expectancy of people with Down syndrome has increased markedly over the past decades, mainly due to success in the surgical treatment of heart defects and gastrointestinal tract, Semenova added. But effective science cannot yet offer methods of treating the syndrome, including using genome editing, said Svetlana Smirnikhina, head of the genome editing laboratory of the FBGNU "Medical Genetic Research Center", Ph. D. which are caused by mutations in the genome, in 100% of cases leading to the disease. factor diseases, this technology is powerless,” she said. According to her, it is still impossible to cut out a whole chromosome, which contains thousands of genes, from an embryo.

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MOSCOW, March 21 - RIA Novosti. Race and socio-economic conditions do not affect the birth of a child with Down syndrome, but the age of the mother is the main risk factor, in women by the age of 40, the probability of having a child with Down syndrome increases 9 times compared to women 30 years old, RIA Novosti reported in the press service of the Federal State Scientific Institution "Medical Genetic Research Center".

Every year on March 21, the world celebrates the World Day of People with Down Syndrome, a disease resulting from a genetic anomaly in which an extra chromosome appears in the human body.

"The chance of having a baby with Down's syndrome is not determined by race or socioeconomic background, but largely depends on the age of the mother. the mother is 40 years old - 9:1000," the report says.

In turn, senior researcher of the scientific advisory department of the FBGNU "Medical Genetic Research Center", geneticist of the highest category, candidate of medical sciences Natalya Semenova told RIA Novosti that the prevalence of Down syndrome to some extent depends on traditional and religious characteristics region.

March 21, 2019, 02:02

International Day of People with Down Syndrome

"In countries where termination of pregnancy is not accepted, the prevalence is higher," she noted.

In Russia, pregnant women, regardless of their age, undergo prenatal screening for Down's syndrome in their baby, Semyonova added.

As Arkady Kotlyar, an obstetrician-gynecologist at the Central Research Institute of Epidemiology of Rospotrebnadzor, told RIA Novosti, the study is carried out at 11-12 weeks of pregnancy. A woman is given an ultrasound examination, certain points of the fetus are examined, after which the pregnant woman is tested for certain hormones, and a mathematical program calculates the probability of having a child with genetic changes.

At the same time, experts specify that this test only shows the probability of having a child with Down syndrome, but does not give an accurate answer.

To date, the most effective research method is a non-invasive prenatal test - the study of fetal DNA isolated from the mother's blood, its accuracy is 97-99%, the press service of the center noted.

Analysis can be carried out already from the 9th week of pregnancy, but so far only at your own expense, the press service added.

March 20, 2019, 16:38

Menshenina: Russia needs state support algorithms for people with Down syndrome said Irina Menshenina, General Director of the Love Syndrome Charitable Foundation.

At the same time, the number of children with Down syndrome has not changed after it became possible to detect it during early pregnancy, Semenova emphasized.

"In a UK study in 2011, analyzing twenty years of prenatal screening programs for Down's syndrome... showed that the prevalence of Down's syndrome among live births has not generally changed. Increased maternal age on the one hand and increased survival of children with trisomy The 21st chromosome, on the other hand, gave a compensatory effect of the use of prenatal diagnostics," she explained.

At the same time, the life expectancy of people with Down syndrome has increased markedly over the past decades, mainly due to advances in the surgical treatment of heart and gastrointestinal tract defects, Semenova added.

But science still cannot offer effective methods of treating the syndrome, including using genome editing, said Svetlana Smirnikhina, head of the genome editing laboratory of the Medical Genetic Research Center, Candidate of Medical Sciences, to RIA Novosti.

"Genome editing is effective only for the treatment of those diseases that are caused by mutations in the genome, which in 100% of cases lead to the disease.
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