Chances of downs syndrome baby

Facts about Down Syndrome | CDC

Down syndrome is a condition in which a person has an extra chromosome.

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)external icon
DSRF initiates research studies to better understand the learning styles of those with Down syndrome.
Global Down Syndrome Foundationexternal icon
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 Syndromeexternal icon
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)external icon
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.

Prenatal Testing for Down Syndrome | Patient Education

Down syndrome is a genetic condition caused by extra genes from the 21st chromosome. It results in certain characteristics, including some degree of cognitive disability and other developmental delays. Common physical traits include an upward slant of the eyes; flattened bridge of the nose; single, deep crease on the palm of the hand; and decreased muscle tone. A child with Down syndrome, however, may not have all these traits.

The incidence of Down syndrome in the United States is about 1 in 1,000 births. There is no association between Down syndrome and culture, ethnic group, socioeconomic status or geographic region.

Age-Related Risks

Generally, the chance of having a Down syndrome birth is related to the mother's age. Under age 25, the odds of having a child with Down syndrome are about 1 in 1,400. At age 35, the odds are about 1 in 350. At age 40, the odds are about 1 in 100.

Causes of Down Syndrome

There are three causes of Down syndrome:

Trisomy 21

An estimated 95 percent of people with Down syndrome have trisomy 21, meaning they have three number 21 chromosomes instead of two. We normally have 23 pairs of chromosomes, each made up of genes. During the formation of the egg and the sperm, a woman's or a man's pair of chromosomes normally split so that only one chromosome is in each egg or sperm. In trisomy 21, the 21st chromosome pair does not split and a double dose goes to the egg or sperm. An estimated 95 to 97 percent of the extra chromosome is of maternal origin.

Translocation

Translocation occurs in about 3 to 4 percent of people with Down syndrome. In this type, an extra part of the 21st chromosome gets stuck onto another chromosome. In about half of these situations, one parent carries the extra 21st chromosome material in a "balanced" or hidden form.

Mosaicism

In mosaicism, the person with Down syndrome has an extra 21st chromosome in some of the cells but not all of them. The other cells have the usual pair of 21st chromosomes. About 1 to 2 percent of people with Down syndrome have this type.

Prenatal Testing

Screening tests can identify women at increased risk of having a baby with Down syndrome. These tests have no risks of miscarriage, but can't determine with certainty whether a fetus is affected. Diagnostic tests, on the other hand, are extremely accurate at identifying certain abnormalities in the fetus, but carry a small — generally less than 1 percent — risk of miscarriage. We offer options for both screening and diagnostic testing.

Screening Tests

Sequential Integrated Screening — Sequential integrated screening is offered to all pregnant women by the state of California. This non-invasive screening is performed in two steps.

In the first step, which is performed between 10 and 14 weeks of pregnancy, a blood sample is taken from the mother and a nuchal translucency ultrasound is performed to measure the amount of fluid at the back of the baby's neck. If the blood test is scheduled prior to the ultrasound, we can provide the results at the end of the ultrasound appointment. The results of the blood test, the nuchal translucency measurement and the mother's age are used to estimate the risk for Down syndrome and trisomy 18.

The second step is a maternal blood test between 15 to 20 weeks of pregnancy. When the results of this blood test are combined with the results from the first trimester blood test and nuchal translucency ultrasound, the detection rate for Down syndrome increases. This test also provides a personal risk assessment for having a fetus with trisomy 18, Smith-Lemli-Opitz syndrome, an open neural tube defect or an abdominal wall defect.

Diagnostic Tests

Amniocentesis, chorionic villus sampling (CVS) and ultrasound are the three primary procedures for diagnostic testing.

Amniocentesis — Amniocentesis is used most commonly to identify chromosomal problems such as Down syndrome. When the fetus is known to be at risk, it can detect other genetic diseases like cystic fibrosis, Tay-Sachs disease and sickle cell disease.

An amniocentesis procedure for genetic testing is typically performed between 15 and 20 weeks of pregnancy. Under ultrasound guidance, a needle is inserted through the abdomen to remove a small amount of amniotic fluid. The cells from the fluid are then cultured and a karyotype analysis — an analysis of the chromosomal make-up of the cells — is performed. It takes about two weeks to receive the results of the test.

Amniocentesis detects most chromosomal disorders, such as Down syndrome, with a high degree of accuracy. Testing for other genetic diseases, such as Tay-Sachs disease, is not routinely performed but can be detected through specialized testing if your fetus is known to be at risk. Testing for neural tube defects, such as spina bifida, also can be performed.

There is a small risk of miscarriage as a result of amniocentesis — about 1 in 100 or less. Miscarriage rates for procedures performed at UCSF Medical Center are less than 1 in 350.

Chorionic Villus Sampling (CVS) — Like amniocentesis, chorionic villus sampling is used most commonly to identify chromosomal problems such as Down syndrome. It can detect other genetic diseases like cystic fibrosis, Tay-Sachs disease and sickle cell disease in at-risk fetuses. The main advantage of CVS over amniocentesis is that it is done much earlier in pregnancy, at 10 to 12 weeks rather than 15 to 20 weeks.

CVS involves removing a tiny piece of tissue from the placenta. Under ultrasound guidance, the tissue is obtained either with a needle inserted through the abdomen or a catheter inserted through the cervix. The tissue is then cultured and a karyotype analysis of the chromosomal make-up of the cells is performed. It takes about two weeks to receive the results.

The advantage of CVS over amniocentesis is that the test is performed much earlier in pregnancy, so results are typically available by the end of the third month. A disadvantage is that spinal cord defects cannot be detected. Expanded alpha fetoprotein (AFP) blood testing or ultrasound can be performed later in the pregnancy to screen for spinal cord defects.

There is a small risk of miscarriage as a result of CVS — 1 in 100 or less. Miscarriage rates for procedures performed at UCSF Medical Center are less than 1 in 350.

Ultrasound — The primary purpose of ultrasound is to determine the status of a pregnancy — the due date, size of the fetus and if the mother is carrying multiples. Ultrasound also can provide some information about possible birth defects in a fetus. All patients at UCSF Medical Center undergo a comprehensive ultrasound examination before any invasive tests are performed. Results of the ultrasound are explained at the time of the visit.

In some patients, an ultrasound raises concern of a possible abnormality in the fetus. We have extensive experience in performing and interpreting ultrasounds in pregnancy.

If You Receive a Positive Result

If you receive positive results on a screening test, we recommend that you discuss this with your doctor and a genetic counselor. Options for further diagnostic testing will be explained. The decision as to whether to have invasive genetic testing is up to you.

If a diagnostic test finds a genetic abnormality, the significance of such results should be discussed with experts familiar with the condition, including a medical geneticist and a genetic counselor, as well as your own doctor.

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

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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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