Having a down syndrome baby
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.
Other Health Problems
Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems among children with Down syndrome are listed below.8
- Hearing loss
- Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep
- Ear infections
- Eye diseases
- Heart defects present at birth
Health care providers routinely monitor children with Down syndrome for these conditions.
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.
Growth Charts for Children with Down Syndrome
Growth charts for children with Down syndrome in the United States are available for download below. These charts can help healthcare providers monitor growth among children with Down syndrome and assess how well a child with Down syndrome is growing when compared to peers with Down syndrome.
Clinical Growth Charts
The clinical charts are shown in metric units (kilograms and centimeters). Each chart is available for boys and girls. Each chart shows the 5th, 10th, 25th, 50th, 75th, 90th, and 95thpercentiles. The available charts include the following:
For children from birth to 3 years of age:
- Weight in kilograms*
- Length/height in centimeters (length is measured unless the child can stand unsupported, in which case height is measured)
- Head circumference (measurement around a child’s head in the largest area)
- Weight-for-length
*Weight percentile curves start at age 0 months; other “birth to 3 years of age” growth curves start at 1 month of age.
For individuals aged 2-20 years:
- Weight
- Height
- Head circumference
0-36 months
BoysWeight in kilograms [PDF – 718K]
Length/height in centimeters [PDF – 620K]
Head circumference [PDF – 655K]
Weight in kilograms-for-length in centimeters [PDF – 742K]
GirlsWeight in kilograms [PDF – 133K]
Length/height in centimeters [PDF – 140K]
Head circumference [PDF – 136K]
Weight in kilograms-for-length in centimeters [PDF – 134K]
2-20 years
1,2BoysWeight in kilograms [PDF – 691K]
Height in centimeters [PDF – 715K]
Head circumference [PDF – 623K]
GirlsWeight in kilograms [PDF – 124K]
Height in centimeters [PDF – 137K]
Head circumference [PDF – 169K]
1Body mass index (BMI) growth charts are available at https://www. cdc.gov/growthcharts/clinical_charts.htm
2Please see the publication by Zemel at al. for body mass index (BMI) growth charts for a sample of children with Down syndrome
Methods and Development
For more information about the methods and development of the growth charts for children with Down syndrome, please see http://pediatrics.aappublications.org/content/early/2015/10/21/peds.2015-1652.abstract.
Background
The information below is provided to help you read and interpret the growth charts for children with Down syndrome.
What is a percentile?
Percentiles are the most commonly used indicator to assess the size and growth patterns of individual children in the United States. Percentiles rank the position of an individual by indicating what percent of the reference population the individual would equal or exceed. The reference population is the group of individuals whose growth patterns were used to develop the growth charts.
What is a z-score?
A z-score is a measure of how an individual relates to the average value for the reference population. A z-score has a direct relationship to percentiles. For more technical information about these scores and how they are calculated, visit https://www.cdc.gov/growthcharts/growthchart_faq.htm.
My child is at or below the 5th percentile on a chart, what should I do?
If you are concerned about your child’s growth, talk with your child’s healthcare provider.
Are there considerations I should keep in mind when using these charts?
Specialized growth charts, like these new growth charts for children with Down syndrome, provide useful growth references for children with Down syndrome, but may have some limitations. For example, for this study the researchers took growth measurements from a group of 637 individuals with Down syndrome recruited from medical and community locations, mostly from the Philadelphia area. These children might not be representative of all children with Down syndrome in the United States. For more information about the methods and development of the growth charts for children with Down syndrome, please see http://pediatrics.aappublications.org/content/early/2015/10/21/peds.2015-1652.abstract.
Reference
Zemel BS, Pipan M, Stallings VA, Hall W, Schadt K, Freedman DS, Thorpe P. Growth charts for children with Down syndrome in the United States. Pediatrics. 2015 Nov 1;136(5):e1204-11.
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 according to the 21st chromosome, trisomy G.
Synonyms English
Down Syndrome, Down Syndromy 21. 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.
causes, symptoms, diagnosis, classification
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Among chromosomal pathologies, a special place is occupied by Down syndrome - one of the most common genetic disorders in newborns. Its main cause is a random genetic mutation, as a result of which a third extra chromosome appears in the 21st pair of chromosomes. The frequency of the phenomenon is approximately 1 case per 600-800 babies. A random mutation leaves its mark on the child's appearance already at the stage of intrauterine development, which greatly facilitates the diagnosis of Down syndrome by ultrasound.
Main causes
Modern medicine names two causes of the disease at once:
- Mother's age. This is the main risk factor for Down syndrome. The older the pregnant woman, the higher the risk of having a child with a random genetic pathology. At the age of 30-40 years, the risk of a genetic failure is 1/1000, after 42 years - 1/60. The main factor is the aging of eggs, which are laid during the prenatal development of a girl and gradually lose their ability to form a genetically healthy fetus. The age of the father is also important - before or after 45 years, when the likelihood of having a baby with Down syndrome increases dramatically.
- Hereditary factor. The cause of the development of the syndrome can be closely related marriages, the presence of a disease in one of the relatives of the child. Also important is the age of the grandmother, in which she gave birth to a daughter. The higher it is, the greater the risk of having a grandson with the syndrome.
It is important to remember that Down syndrome is recognized by specialists from all over the world as a random genetic mutation. It does not depend on the environmental situation, the level of radiation, the presence of hazardous production and other extraneous factors.
Characteristic external and other symptoms
People who are carriers of an extra chromosome have a characteristic appearance:
- flat nose bridge;
- Mongoloid incision of the eyes, because of which the pathology has the second name "Mongolism";
- flat face and back of the head.
Also among the features are some lag in development and reduced immunity, which does not allow the body to resist external infections. All of the above is not a limiting factor. Today, special teaching methods have been developed for them from the first months of life. Subject to the activity of parents, children with Down syndrome symptoms can receive secondary education and a profession, become full-fledged members of society and start their own family.
Complications
Depending on the complexity of the form of Down syndrome, the patient may experience:
- congenital heart defects;
- frequent infectious diseases;
- leukemia;
- early onset of Alzheimer's disease;
- sleep apnea;
- obesity, etc.
Diagnosis
Identification of a genetic anomaly is possible in the early stages of pregnancy:
- Ultrasound screening at 11-13 weeks evaluates the size of the collar space and the size of the nasal bone of the fetus;
- at the same time, a blood test is performed to clarify the amount of chorionic hormone and plasma protein;
- at later stages of pregnancy, fetal tissues are taken for genetic testing: amniocentesis, chorionic fiber biopsy or cordocentesis.
Because we are talking about a genetic failure, the treatment of Down syndrome consists only in monitoring the patient's state of health and correcting the complications of the underlying disease.
Prognosis for patients
Today, the average life expectancy with a genetic pathology is approaching 55-60 years, while a few decades ago they lived only up to 25 years due to unfavorable living conditions.
The probability of having a child with a genetic abnormality in a person with Down syndrome is about 35-50%. In addition, during the formation of the fetus in a pregnant woman with a disease, the unborn baby may experience other genetic failures.
At the same time, the risk of oncological diseases in such patients is reduced to zero. In addition, parents note the cordiality and invariably good mood of such children, their affection, responsiveness, the ability to easily make contact and not be offended by others.
Prophylaxis
It is not possible to completely eliminate the risk of having a child with a genetic pathology of the 21st pair of chromosomes. However, it is in the power of future parents to do everything possible to strengthen their own reproductive health and exclude chromosomal failure:
- take care of your health, seek medical help in a timely manner to treat identified diseases;
- lead a healthy and active lifestyle, play sports so that enough oxygen enters the eggs;
- eat right, enriching the diet with healthy foods high in vitamins and microelements;
- support the immune system;
- watch your weight, because its deviation in any direction can cause hormonal failure and disruption of the process of maturation of germ cells;
- undergo an ultrasound examination during pregnancy in a timely manner in order to identify a genetic failure in the fetus in the first weeks of intrauterine development.
Observation of patients with Down's syndrome at JSC "Medicina" (clinic of Academician Roitberg) in Moscow
In JSC "Medicina" (clinic of academician Roitberg) there is a Center for working with special children. Pediatricians and specialized specialists of the clinic in the Central Clinical Hospital of Moscow are ready to work with patients with Down syndrome, regardless of their age and general condition of the body.
Patients are guaranteed an attentive and responsible attitude, an individual approach, confidentiality of personal data and the achievement of visible results of the prescribed treatment or prevention of Down syndrome. All the necessary diagnostic measures can be taken in the clinic to get quick and reliable results.
To make an appointment and additional consultations, you can call +7 (495) 775-73-60.
Frequently asked questions about the disease
How long do people with Down syndrome live?
The average life expectancy of patients with Down syndrome today is about 50 years, having increased by more than 2 times compared to the statistics of the middle of the last century. The life span is affected by the presence of complications in the body caused by a genetic failure, living conditions, heredity, etc. Subject to qualified medical supervision, the life expectancy of patients can be extended and made more comfortable.
How to identify the disease during pregnancy?
To clarify the risk of developing a fetus with a genetic abnormality, you can use ultrasound in early pregnancy, as well as a laboratory blood test for the content of proteins and hormones in the body of the expectant mother. If there are serious suspicions of a genetic failure at a later date, the fetal biomaterial obtained by biopsy or amniotic fluid sampling is examined.
Is there a cure for Down syndrome?
Modern medicine is not able to correct the consequences of the formation of the third chromosome. Therefore, she faces several tasks: monitoring pregnancy, timely detection of complications in a patient with the syndrome and their correction. It is possible to partially eliminate the consequences of the disease with the help of special training programs and physical activity of a child with Down syndrome, whose body is prone to overweight.