Did you visit your doctor or gynecologist for a regular checkup and they told you that there are chances of your baby to suffer from Down Syndrome?
Down Syndrome is a condition in which a person has abnormal cell division and it results in an extra full or partial copy of chromosome 21.
Moreover, this extra genetic material can cause changes in development and physical features.
It varies among individuals and causes life-long intellectual disability and developmental delays.
Furthermore, it is one of the most common genetic disorder which occurs in human chromosomes and causes learning disabilities in children.
What is Down Syndrome?
Chromosomes are small packages of genes in the human body. They determine how a baby develops and forms as it grows during pregnancy and after birth.
A baby has 4 chromosomes, however, babies with down syndrome have an extra copy of chromosomes, i.e. chromosome 21.
Due to this extra copy of a chromosome, there are different mental and physical limitations to these individuals.
People with Down Syndrome act and look similar, but each person has different abilities. Their IQ level is from mild to moderately low range and speaks slowly than other children.
You can learn more about us in our blogs.
Physical Features of Down Syndrome
Some common physical features of a person with Down Syndrome are as follows:
A flattened face especially the bridge of the nose, almond-shaped eyes, and a short neck.
Small ears, a tongue that sticks out, tiny white spots on the iris, small hands, and feet.
Palmer creases, poor muscle tone or loose joints, and a shorter height than other kids and adults.
How Common is Down Syndrome?
According to World Health Organization, every year between 1 in 1000 to 1 in 1,100 live births worldwide are affected by Down Syndrome.
Each year, about 6,000 babies are born with this disease in the United States.
Down Syndrome is the most common genetic disorder. The way this condition presents itself is different in every person.
Some people will have a low IQ while others will have severe complications. The same goes for health conditions.
Types of Down Syndrome
There are three types of Down Syndrome. Let us discuss them step by step:
Trisomy 21: Down Syndrome occurs due to an error in cell division: nondisjunction.
This results in an embryo with three copies of chromosome 21 instead of the usual 2 copies.
Before or at conception, this pair of the 21st chromosome is either the sperm or egg fails to separate. As the embryo develops, this extra cell replicates in very vell of the body.
This type of Down Syndrome accounts for 95% of the cases and is called Trisomy 21.
Mosaicism: The doctor diagnoses this type of down syndrome when there is a mixture of two types of cells, Mosiac Down Syndrome.
Some chromosomes contain the usual 46 chromosomes while some contain 47. Those with 47 have an extra chromosome 21.
Mosiac Down Syndrome the least common type of Down Syndrome and accounts for only 1% of the cases.
Research indicates that individuals with Mosaic Down Syndrome have fewer characteristics of Down Syndrome than those with other types.
Translocation: This accounts for 4% of the cases of Down Syndrome, however, an additional full or partial copy of chromosome 21 attaches it sells to another chromosome usually chromosome 14.
This extra chromosome that is attached to another chromosome causes Down Syndrome.
Causes of Down Syndrome
Humans contain 4 chromosomes however people with Down Syndrome have an additional full or partial chromosome 21.
This extra copy of the chromosome leads to physical and developmental changes.
In some cases, when a chromosome is attached to another chromosome i.e. 21 chromosomes it can cause this syndrome.
Researchers know the cause of Down Syndrome, however, why it occurs or the different factors that lead to it are still unknown.
Another factor that increases the risks of having a baby with Down Syndrome is the mother’s age.
Women who conceive at the age of 35 or above are more likely to have a child with Down Syndrome than those who conceive at an early age.
However, the majority of babies with Down Syndrome are born to mothers whose age is less than 35.
This happens because there are many more births among younger women.
Is it Inherited?
No, this disease is not inherited. it happens due to an additional chromosome at the early stages of fetus development.
However, Translocation is inherited and passes from parents to children.
In case there is an imbalance in the translocations, then the genetic material does not pass down and there are no signs and symptoms of Down Syndrome.
Symptoms of Down Syndrome
You can take a screening test to know the likely hood of carrying a child with Down Syndrome during your pregnancy.
However, you will not experience the signs and symptoms of carrying a child with Down Syndrome.
At birth, the common characteristics of the baby are as follows:
Flat facial features, small head and ears, and short neck.
Bulging tongue, eyes that slant upward, atypically shaped ears, and poor muscle tone.
An infant with Down Syndrome can be born an average size however will develop slowly than other children.
Moreover, people with Down Syndrome have lower IQ and slow development of the brain and whole body.
Your child might display the following behavioral and mental delays in the following ways:
- impulsive behavior
- poor judgment
- short attention span
- slow learning capabilities
Medical complications often occur with Down Syndrome. These are:
- Congenital heart defects
- hearing loss
- poor vision
- clouded eyes (cataracts)
- leukemia
- chronic constipation
People with Down Syndrome are more likely to be affected by infections and can struggle with respiratory infections, urinary tract infections, and skin infections.
Screening for Down Syndrome during Pregnancy
In most countries, screening is a part of parental care. If a woman is over 35 and the father is over 40 years of age, you might want to get an evaluation.
First Trimester
Blood tests and ultrasound can look for Down Syndrome in your fetus.
However, these tests have a higher false-positive rate than the test at later stages of pregnancy.
Your doctor may follow up with amniocentesis after your 15th week of pregnancy if your results are not normal.
Second Trimester
SMA (quadruple maker screen or ultrasound can help identify the signs and symptoms of Down Syndrome in your baby.
Other defects can also be screened during these tests and are done between 15 and 20 weeks of pregnancy.
You are at a higher risk for birth defects if the tests are not normal.
Additional Tests
In order to detect Down Syndrome in your body, your doctor may take the following tests:
Amniocentesis: Your doctor will take the amino fluids to examine the number of chromosomes in your baby.
Your doctor will take this test after 15 weeks of your pregnancy.
CVS (Chronic Villus Sampling): In this test, your doctor will analyze the cells from your placenta to analyze fetal chromosomes.
Your doctor will take this test during the 9th and 14th weeks of pregnancy. However, it can increase your chances of miscarriage but is less than 1%
PUBS or Cordocentesis: Your doctor will take blood from your umbilical cord and examine it.
They will take this test after the 18th weeks of your pregnancy, however, there are higher risks of miscarriage during this test,
Tests at Birth: Your doctor will perform a physical examination and order a blood test, Karyotype to confirm Down Syndrome.
A Karyotype is a process in which the doctors take photographs of chromosomes of your baby to determine the chromosome complement of an individual.
Karyotype describes the chromosome count of the baby and what they look like under a microscope.
The doctors pay special attention to the length, position of centromeres, binding pattern, and other differences during the test of Karyotype test.
Early Intervention
Early intervention is a systematic program of therapy, exercises, and activities that doctors and therapists design to address developmental delays in children with Down Syndrome.
There are specific milestones in each of the four areas of development during the early intervention (gross and fine motor abilities, language skills, social development, and self-help skills) that serve as prerequisites for the stages that follow.
Most children achieve each milestone at a designated time, also referred to as a “key age,” which can be calculated in terms of weeks, months, or years.
Because of specific challenges with Down syndrome, babies will likely experience delays in certain areas of development.
However, with early intervention, they will achieve all of the same milestones as other children, just on their own timetable.
In monitoring the development of a child with Down syndrome, it is more useful to look at the sequence of milestones that the child achieves, rather than the age with early intervention.
Treatment Options
To this date, there is no cure for Down Syndrome. But they are a variety of support and educational programs that can help both individuals and families.
One of the worldwide organizations is NDSS.
Available programs interfere during the pregnancy of a baby with this condition.
However, in various progress, special teachers and therapists will help your child to learn sensory, social, self-help, motor, language, and cognitive abilities.
School is an important part of the life of a child with this disease.
Both Public and Private schools support children with Down Syndrome and their families by giving them different educational and integration opportunities.
Complications due to Down Syndrome
People with this condition can have a number o complications, however, some of these complicate with age.
These complications are as follows:
Heart Defects: Most of the children with Down Syndrome have congenital heart defects. This can be life-threatening and require surgery.
Gastrointestinal Defects: These may occur with children with this Syndrome and shows abnormalities in the intestines, esophagus, trachea, and anus.
This can cause heartburn or Celiac Disease and may increase.
Immune Disorders: People with this disease are at a greater risk of developing autoimmune disorders, some form of cancer, and infectious diseases.
Sleep Apnea: As children with Down Syndrome have soft tissues and skeletal changes, it can lead to obstruction of their airways, and are at a greater risk of Sleep Apnea.
Obesity: People with this Syndrome are at a greater risk of being obese than normal individuals.
Spinal Problems: Some people with Down Syndrome might develop misalignment of the top two vertebrae in the neck.
Moreover, this condition puts them at a higher risk of serious injury to the spinal cord from overextension.
Some other Complications that people with such individuals might face are Leukemia, Dementia, dental problems, seizures, and hearing problems.
Life Expectancy
With time, there have been dramatic changes in the life expectancy of individuals with Down Syndrome.
Today they expect to have a life of more than 60 years however it depends on the severity of health problems.
Can you Prevent It?
You cannot this condition, however, if you are having a child with Down Syndrome or already have one you might want to consult a genetic counselor before conceiving again.
A genetic counselor can help you understand your chances of having a child with this disease and can also explain the importance of parental tests that are available and the advantages and disadvantages of them.
The Takeaway
If you are living with a family member of a child with Down Syndrome, then you might want to have a medical professional who understands the condition and challenges.
People with this disease are living a longer life today however, they often face a unique set of challenges.
They can overcome these obstacles and challenges by building strong support and network of professionals and understanding family and friends is crucial for their success.
