High risk down syndrome

How the Down syndrome test works and tips for making your decision | Your Pregnancy Matters

Down syndrome is a topic that comes up early in every pregnancy. Many of our patients are still in the afterglow of learning they are pregnant when we offer them a screening for this well-known genetic disorder.

Although we are fortunate that the technology exists to find out if a baby will have Down syndrome, some women struggle with the decision of whether to have the screening.

I’ll cut to the chase – there is no right or wrong answer. But there are things you should know and factors to consider.

This post explains how we test for Down syndrome and other chromosome abnormalities. Then, I will offer some advice about things to consider as you make your decision about the screening test.

How we test for Down syndrome

Patients in their first trimester are offered a screening to look for chromosome abnormalities. The screening cannot confirm that a baby has Down syndrome but rather looks for clues related to the condition. If the patient agrees to the screening, an ultrasound and a blood test are completed.

The screening must be performed when the patient is between 11 and 14 weeks pregnant. At this point in gestation, the base of the baby’s neck is still translucent, which allows the sonographer to take a specific measurement in this area.

Babies with Down syndrome and other conditions related to chromosome abnormalities usually have extra fluid in an area behind the neck during this stage of the pregnancy. In addition to Down syndrome, a larger-than-normal measurement can guide doctors toward other conditions that have no connection to chromosomes, such as heart abnormalities.

The neck measurement, the patient’s age, the baby’s gestational age, and the blood test all help the doctor determine the likelihood of a chromosome abnormality.

Other screening methods are available for patients who visit us during their second trimester.

If the screening indicates a strong likelihood of Down syndrome, we offer further diagnostic testing to confirm the diagnosis. Tests are available that analyze the amniotic fluid surrounding the baby, cells from the placenta, or blood from the umbilical cord. Just like the screening, these tests are optional. Because there is a risk of miscarriage with each of these tests, they are not offered unless the results of the screening are abnormal.

Testing options for ‘high-risk’ patients

Patients are more likely to have a baby with Down syndrome or another chromosome abnormality when they are age 35 or older, or if they have already had a child with such an abnormality. These patients are considered “high-risk” and have additional testing options.

One of the newest tests offered to high-risk patients is a blood test that compares DNA from the mom and the baby. It can be done as early as Week 10 of the pregnancy.

With each pregnancy, some DNA from the baby will find its way into the mother’s bloodstream. In a normal pregnancy, the ratio of chromosomes between the mother and baby is proportionate.

If the test results reveal a lot more fetal DNA on one of the chromosome pairs, we know there is a very strong likelihood the baby will have Down syndrome or other disorders linked to that chromosome abnormality.

How to decide whether to have the screening for Down syndrome

Deciding whether to have the screening for Down syndrome is a personal choice. My best advice is to think about what you would do with the results. If you wouldn’t take any action, regardless of the results, then the screening may be unnecessary.

However, if pregnancy termination is something you would consider, it’s probably a good idea to have the screening performed.

Some patients may want to know as soon as possible that their baby will have Down syndrome, so they have extra time to learn about the condition and seek available resources. Other patients may not have a desire to find out, for any number of reasons.

The mother’s age is another factor to consider. We know that the risk of having a baby born with Down syndrome increases as the mother gets older. In fact, a mother who is 35 years old is three times more likely to have a baby born with Down syndrome than a mother who is 25 years old.

A discussion with your doctor can help you make the best decision for your personal situation.

To learn more about the basics of Down syndrome and how it was first discovered, read this post from my colleague, Dr. Horsager.

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.

causes, symptoms, diagnosis, classification

Gynecologist

Temisheva

Yakha Akhmedovna

Experience 46 years

Obstetrician-gynecologist of the highest category, Ph.D. Among chromosomal pathologies, a special place is occupied by Down syndrome is 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. nine0024
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. nine0003

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. nine0003

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;
cessation of breathing during sleep;
obesity, etc.

Diagnosis

Identification of a genetic anomaly is possible in the early stages of pregnancy: nine0003

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. nine0003

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. nine0003

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: nine0003

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; nine0024
to 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. nine0003

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. nine0003

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. nine0003

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. nine0003

Down syndrome - causes, symptoms of the disease, diagnosis and treatment

I confirm More

INVITRO
Library
Disease Handbook
Down Syndrome

Trisomy

nine0002 Brachycephaly

Mental retardation

Speech development

37 21st of June

Down syndrome: causes, symptoms, diagnosis and treatment.

Definition

Down's syndrome is a congenital chromosomal anomaly, consisting in the presence of an extra chromosome in the 21st pair (trisomy of the 21st pair of chromosomes). A person has 23 pairs of chromosomes, so an ordinary child has 46 chromosomes, and a child with Down syndrome has 47. Down syndrome is characterized by a special appearance of the patient and a decrease in intellectual abilities. The frequency of this chromosomal anomaly in the population is 1:800 and does not depend on gender, race, family standard of living, or the presence or absence of bad habits in parents. nine0003

In Russia, 2,500 children with Down syndrome are born annually.

Causes of Down syndrome

The risk of having a child with Down syndrome for a woman increases from the age of 35 and reaches 1% by the age of 39. Of the total number of newborns with Down's disease, more than 20% are born to mothers over 35 years of age. In addition, risk factors are the presence of hepatitis B or C in the mother, tuberculosis, rubella, Botkin's disease, the father's age is over 45 years, the mother's age is too young (up to 18 years), and closely related marriages. nine0003

Classification of Down syndrome

There are three types of Down syndrome:

Trisomy is the most common form of Down syndrome, which is characterized by complete tripling of 21 chromosomes in all cells of the body; this form accounts for 94-95% of all cases of the disease;
displacement (translocation) of 21 pairs of chromosomes to other chromosomes - occurs in 4% of cases;
mosaic Down's syndrome (about 2% of cases), when only some cells of the body contain tripled chromosome 21. Patients themselves, as a rule, are no different from healthy ones, but have a high risk of having a child with Down syndrome. nine0024

Symptoms of Down syndrome

A child with Down syndrome has wide-set eyes with a Mongoloid incision, light pigment spots can be observed on the iris, epicanthus is often present - a vertical fold located between the upper and lower eyelids, partially covering the inner canthus . In addition, the distinguishing features are a short nose, a flat bridge of the nose, small auricles, brachycephaly (short and wide, almost round, head), a flat nape, an arched palate. Children often have anomalies of the dentition, underdevelopment of the lower jaw. nine0003

The body and limbs are disproportionately formed - the figure is squat, the shoulders are lowered, the limbs are short, there is a skin fold on the neck, the fingers may be shortened due to underdevelopment of the middle phalanges. Children with Down syndrome have a unique pattern of fingers and palms, this does not affect development in any way, but is a diagnostic feature. The feet are normal, but with an increased gap between the first and second toes, the sole often has a deep crease in this place. Most people with Down syndrome have flat feet. Muscle tone is significantly reduced, which affects movements. nine0003

Malformations of various organs and systems are diagnosed - the heart, the gastrointestinal tract, hypoplasia of the genital organs, keeled (the sternum protrudes) or funnel-shaped (the sternum is depressed) deformity of the chest.

Children with Down syndrome have mental retardation of varying severity. All children with Down syndrome lag behind in psychomotor development - they have reduced emotional activity, they begin to sit, walk, talk later than their peers, their speech is underdeveloped, their vocabulary is poor. nine0003

Speech disorders are associated not only with insufficiency of intelligence, but also with frequent hearing impairments and reduced muscle tone.

Despite the lag in intellectual and psycho-emotional development, children with Down syndrome are teachable, although they need more time to master certain knowledge than their peers. They can attend pre-school and school institutions, receive vocational education, be creative, lead a normal life and start families. nine0003

Such patients may show affection, benevolence, and curiosity.

Down Syndrome Diagnosis

During pregnancy, a woman can be diagnosed with Down syndrome. Primary (screening) diagnosis includes ultrasound and markers such as free beta hCG and PAPP-A (pregnancy-associated protein A) between the 11th and 13th weeks of pregnancy.

Screening ultrasound 1st trimester of pregnancy (11-13 weeks 6 days)

Investigation necessary to monitor the growth and development of the fetus in the first trimester of pregnancy.

RUB 2,790 Sign up

1st trimester prenatal screening for trisomies, PRISCA-1 (1st trimester biochemical screening - 1st trimester “double test”, risk calculation using PRISCA software)

Synonyms: Prenatal Screening Markers for Down Syndrome; PRISCA-1. Brief description of the study "Prenatal screening for trisomies of the 1st trimester of pregnancy, PRISCA-1)" Test run...

Up to 1 business day

Available with house call

2 040 RUB

Add to cart

If, according to the results of the research, there is a suspicion of Down's syndrome in the fetus, an invasive procedure is possible - a chorionic villus biopsy, or amniocentesis, when a sample of amniotic fluid is taken. nine0003

The decision to conduct an invasive study is made individually in each case, since the procedure is uncomfortable for the mother and has a risk of spontaneous abortion.

There is another screening diagnostic method - non-invasive prenatal testing (NIPT), which allows you to determine the chromosomal abnormalities of the fetus by the mother's blood, due to the detection of DNA fragments of her child in the woman's blood. If a fetus is at high risk of having Down syndrome after NIPT, an invasive examination is still required to confirm the diagnosis. nine0003

The second screening is done at 18-20 weeks of gestation and includes an ultrasound and a blood test if not previously done.

Screening ultrasound of the 2nd trimester of pregnancy (18-21 weeks) with Doppler evaluation of blood flow parameters

Examination to monitor the course of multiple pregnancy, growth and development of fetuses and the consistency of blood circulation.

RUB 3,890 Sign up nine0003

Prenatal screening for trisomies 2nd trimester of pregnancy, PRISCA-2 (biochemical screening 2nd trimester, "triple test" 2nd trimester, risk calculation using the PRISCA program)

Synonyms: Triple test of the second trimester of pregnancy. Maternal Screen, Second Trimester; Prenatal Screening II, PRISCA II, Prenatal Risk Calculation. Attention! For this study, you must have ...

Up to 1 business day

Available with house call

2 120 RUB

Add to cart

Third ultrasound screening performed at 30-34 weeks.

Screening ultrasound of the 3rd trimester of pregnancy (30-34 weeks) with Doppler evaluation of blood flow parameters

Ultrasound examination for functional assessment of intrauterine development of the fetus, its estimated height and weight, as well as blood circulation. nine0003

RUB 3,890 Sign up

Which doctors to contact

Prenatal diagnosis of fetal Down syndrome is done by a doctor - obstetrician-gynecologist.

The child is watching pediatrician, if necessary, genetic testing is carried out with a consultation of a geneticist. Further, a patient with Down syndrome should be observed by an ophthalmologist, cardiologist, neurologist, dentist, orthopedist-traumatologist, gynecologist, ENT doctor. nine0003

Treatment for Down syndrome

There is no cure for Down syndrome. Patients with Down syndrome usually have a sufficient number of medical problems and conditions that may require care immediately after birth, intermittent treatment, or long-term treatment throughout life. Concomitant malformations are often an indication for surgical treatment.

Children need constant attention and care, physical (exercise) and psychological rehabilitation. Physiotherapy is prescribed to increase muscle strength, improve posture and balance. Speech therapist helps to solve problems with speech. Many patients are forced to resort to the use of hearing aids, glasses for vision correction, orthodontic constructions, bandages that help move, wear orthopedic shoes. Patients with Down syndrome are prone to obesity, so great attention should be paid to sufficient physical activity and a balanced diet. nine0003

In order to correct speech development disorders and related learning difficulties, nootropic drugs are used. Hyperactivity, impulsivity problems, and irritability may be indications for the prescription of psychotropic drugs. In addition, drugs are used to improve metabolic processes and motor activity.

In each age period, the attention of parents and doctors should be directed to the correction of certain conditions. nine0003

In the neonatal period (up to 1 month) and in the first year of life, the presence of malformations of the cardiovascular system and the gastrointestinal tract, as well as thyroid function, is assessed. At the age of 1-5 years, control requires sleep disturbances, constipation, instability of the cervical spine, delayed development of motor skills due to reduced muscle tone. At an older age (5-13 years), sleep disorders, constipation, skin lesions, behavioral disorders, learning difficulties, memory development, communication need correction, the period of sexual development begins. Puberty is accompanied by behavioral problems, deficits or delays in cognitive skills and communication, sexual behavior issues, and behavioral changes. In adulthood, sleep problems, constipation, visual and hearing impairments also persist. nine0003

Complications

Approximately half of children with Down syndrome are diagnosed with heart defects, the most common are ventricular septal defect, open common atrioventricular canal, tetralogy of Fallot and fibroelastosis. Narrowing of the nasopharynx and oropharynx, Eustachian tube, external auditory canal due to the underdevelopment of the middle part of the face leads to the fact that many children with Down syndrome experience apnea - episodes of complete or partial cessation of breathing during sleep, accompanied by impaired ventilation and a decrease in oxygen levels in blood. nine0003

Digestive organs are characterized by regurgitation, bloating, and constipation.

Very high risk of infections, especially of the respiratory tract. The syndrome is often accompanied by eye diseases - congenital cataracts, nystagmus, strabismus, glaucoma, keratoconus, blepharitis and insufficiency of the nasolacrimal ducts. Insufficiency or obstruction of the nasolacrimal canal increases the risk of developing conjunctivitis, lacrimation. Due to frequent otitis media, the outflow of fluid from the middle ear is difficult, which increases the risk of hearing loss. Repeated otitis causes conductive hearing loss and, as a result, impaired speech function. nine0003

Children with Down syndrome may develop scoliosis, hip dysplasia, subluxation or dislocation of the hip, and instability of the patella. Due to the abnormal structure of collagen fibers, weakness of the ligamentous apparatus is observed, leading to hypermobility, instability of the joints, and their excessive mobility.

Prevention of Down syndrome

There is no prophylaxis for Down syndrome. Couples planning to have a child are advised not to delay pregnancy until a later age, to undergo prenatal screening and genetic counseling. nine0003

Sources:

Grigoriev K.I. Down syndrome: comorbidity and program goals in the work of a pediatrician with such children // Difficult patient. - 2017. - No. 1–2. – T 15.
Sapozhnikova T.V. Psychological and pedagogical support for children with Down syndrome and their families in a rehabilitation center: a teaching aid / T.V. Sapozhnikova, N.A. Pershina, N.A. Shchigreva. - Biysk, 2019. - 311 p.

IMPORTANT!

The information in this section should not be used for self-diagnosis or self-treatment. In case of pain or other exacerbation of the disease, only the attending physician should prescribe diagnostic tests. For diagnosis and proper treatment, you should contact your doctor. nine0311 For a correct assessment of the results of your analyzes in dynamics, it is preferable to do studies in the same laboratory, since different laboratories may use different research methods and units of measurement to perform the same analyzes.