An individual is born with Down syndrome when they have an extra partial (or whole) copy of chromosome 21. The condition is also termed Trisomy 21, where the extra chromosome restricts or delays the timely growth and development of the child, mentally and physically .
Down syndrome is the most common disorder related to the chromosomes, with an estimated incidence between 1 in 1,000 to 1 in 1,100 live births worldwide, according to the World Health Organization .
The condition has become more common in recent years with the number of babies born with Down syndrome increased by 30 per cent between 1979 and 2003 . A child with Down syndrome is born with an extra copy of chromosome 21 resulting in 47 chromosomes, instead of the usual 46 .
There are three types of Down syndrome and they are trisomy 21, translocation and Mosaicism or mosaic Down syndrome .
Although the exact cause behind the development of Down syndrome is not known, several studies have pointed out that the increase in the number of chromosomes occurs during the time of conception in most cases.
The copy of chromosome 21 can come from the mother or the father, however, the only risk factor is the mother's age . That is, as a woman gets older, the risk of having a baby born with Down syndrome increases.
According to Kishore Vellody at the Down Syndrome Center at Children's Hospital of Pittsburgh, "Having advanced parental age means the chances of having a baby with Down syndrome do increase. It doesn't feel so advanced when you're 35, but 35 is the age [when risk jumps]" .
When expecting, the best things you can do for you and your unborn baby's health is by starting prenatal care. One of the steps involved in the process of prenatal care is a test for Down syndrome.
You can get two types of tests done to check to Down syndrome during pregnancy .
Screening tests: This test will help you in understanding how likely it is that your baby has Down syndrome. You may find out that there's 1 in 100 chance that your baby has it. There are a few types of screening tests such as the First trimester combined test, A genetic ultrasound, Integrated screening test and Cell-free DNA.
Diagnostic tests: This test helps you understand whether your baby actually has Down syndrome or not. There are a few types of diagnostic tests such as Amniocentesis ("amnio") tests, Chorionic villus sampling (CVS) tests, Cordocentesis, also called percutaneous umbilical blood sampling (PUBS) and Genetic Counseling.
One must also note that there are certain side effects along with the positive notes for these tests. That is, screening tests don't give you a definite answer and diagnostic tests have a small risk of causing a miscarriage .
In some babies, Down syndrome will be diagnosed at birth or during early infancy, on the basis of physical characteristics such as low muscle tone, small head, ears and mouth, upward slanting eyes and irregular spacing between the toes . If suspected, a genetic test will be performed on a small sample of the baby's blood to confirm the diagnosis.
At birth, kids with Down syndrome are usually of average size but tend to grow at a slower rate in comparison to their peers. In infants, the issue of low muscle tone may result in sucking and feeding problems, and constipation and other digestive issues .
Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and toilet learning. Children with Down syndrome learn in different ways and have mild to moderate intellectual impairment.
In most children, Down syndrome does not cause severe health problems. But others can suffer from a number of health issues such as congenital heart defect, increased risk of developing pulmonary hypertension, hearing and vision problems .
The hearing loss is as a result of fluid buildup in the inner ear or to structural problems of the ear and vision-related problems include strabismus (cross-eyed), near- or farsightedness, and an increased risk of cataracts .
Other medical conditions that may happen more frequently in kids with Down syndrome include stomach and intestinal problems, thyroid problems, breathing problems, seizure disorders, an increased chance of infections, sleep apnea and asthma, obesity, and a higher risk of childhood leukaemia .
Down syndrome affects people of all races and economic classes. Although a genetic condition, it is generally not passed down by family members. A child born with Down syndrome is no different from the child next to you.
As a parent of a child with Down syndrome, you have to be aware of the health and learning differences your child will experience compared with other children. Remember, it takes a child with Down syndrome roughly double the amount of time other kids take to meet milestones such as crawling and walking. Be patient and accepting.
Q. Are there signs of Down syndrome in pregnancy?
Ans: Though the likelihood of carrying a baby with Down syndrome can be estimated by screening during pregnancy, you won't experience any symptoms of carrying a child with Down syndrome.
Q. Can a person with Down's syndrome have a baby?
Ans: Women with Down syndrome are able to have children, but many men with the condition, unfortunately, are not able to, however, it is possible.
Q. Can you tell if a baby has Down syndrome in an ultrasound?
Ans: An ultrasound can detect fluid at the back of a fetus's neck, which sometimes indicates Down syndrome.
Q. Are Down syndrome babies bigger or smaller in the womb?
Ans: Babies born with Down syndrome are no larger, or smaller than any other child. The size of a baby with Down syndrome is not any different than any other child.
Q. Do Down syndrome babies cry a lot?
Ans: Children with Down syndrome are children, above all else. As babies, they cry and sleep, and as they grow they walk and talk. If you're caring for a child with Down syndrome, you might face some challenges different from other parents.
Q. What is the mental age of a person with Down syndrome?
Ans: Most individuals with Down syndrome have mild (IQ: 50-69) or moderate (IQ: 35-50) intellectual disability with some cases having severe (IQ: 20-35) difficulties. Those with mosaic Down syndrome typically have IQ scores 10-30 points higher.
World Down Syndrome Day (WDSD) is observed on 21 March, every year. The day was initiated in the year 2006, where 21 May, the 3rd month of the year was specifically selected to signify the uniqueness of the triplication (trisomy) of the 21st chromosome which causes Down syndrome .
The theme for World Down Syndrome Day 2020 is "We Deside" where it focuses on the point that all people with Down syndrome should have full participation in decision making about matters relating to, or affecting their individual lives .
Today, we will take a look at the link between Down syndrome and pregnancy.