There can be nothing more joyful and uplifting than the birth of a child. Thankfully, the vast majority of babies are born healthy, grow and develop into fit and strong children, and on into adulthood. Sadly, there is a small number of children that are born with less than immaculate health.
For the most part, health issues at birth can be addressed, and often cured, with no adverse effects on the child, it’s growth and ongoing development into adulthood. However, there will always be some unfortunate souls that will carry some form of negative health issue, which cannot be cured or treated, throughout their lives.
Babies born with genetic disorders are not uncommon, in fact it is estimated that 6% of births across the world show some level of genetic defect. These defects may be very minor issues that have little or no negative effect on a person’s life. On the other hand, a genetic defect can be highly acute and impair a person’s life quality, or may even be fatal.
Understanding Down Syndrome
One of the most common genetic defects that can befall a child is that of Down syndrome. Globally, around one in a thousand babies are born with Down syndrome. The condition has a negative effect of the sufferer’s growth, development, and overall wellbeing throughout childhood and into adulthood. The syndrome also reduces life expectancy with the worldwide life expectancy of Down’s sufferers being 58 years.
A healthy baby is born with 23 pairs of chromosomes, equaling 46 in total, 22 of these pairs are known as autosomes. The 23rd pair is the sex chromosome; this defines the male or female gender of the baby. With a Down syndrome baby there is an additional 47th chromosome.
The condition of having a 47th chromosome is known as trisomy which will always result in birth defects. The most common of these are Edward, Patau and Down syndrome. By far, 95% of babies born as trisomy will be diagnosed as having Down syndrome. Interestingly, although genetic, only 1% of Down syndrome births can be defined as hereditary.
Down syndrome is, in itself, far from being a straightforward genetic disorder. There are 3 distinct forms of the condition. The most common form of the disorder is trisomy 21 which accounts for 95% of Down syndrome births. With Trisomy 21 there are 3 copies of the chromosome 21 in every cell, as opposed to the typical 2 copies.
Translocation Down syndrome accounts for 3% of Down’s births. With this form of the condition a part or whole chromosome 21 attaches itself to another chromosome, as opposed to being a separate entity.
Mosaic Down syndrome makes up the other 2% of Down syndrome sufferers. A person with Mosaic Down syndrome has, as with Trisomy 21 Down syndrome, 3 copies of chromosome 21 rather than 2. But, unlike Trisomy 21 Down syndrome, this is not the case in all of the cells, only some of them.
Screening for Down Syndrome
Genetic screening for Down syndrome covers the 3 different forms of the condition. The test would normally be done between the 10th and 14th week of pregnancy and is a combination of a blood test and an ultrasound scan.
The test requires the extraction of a small amount of fluid from the back of the unborn child’s neck. This sample is then measured for “Nuchal translucency”. Nuchal translucency measures the nuchal fold thickness at the back of the neck. It is by gauging this thickness, along with the age of the mother, that the risk of Down syndrome, and other genetic problems, can be assessed.
There are occasions when it may not be possible to gather the fluid sample required to do the test due to the position of the unborn baby. Should this situation occur an alternative blood screening test will be offered. The blood test is referred to as a quadruple blood test.
As the name suggests, there are 4 facets to the test. This enables the Samitivej professionals to determine if the fetus has the marker, or any signs of Down syndrome. The quadruple blood test will be undertaken between the 14th and 20th weeks of pregnancy. Down syndrome screening at the Genetic and Down’s Syndrome Clinic is now 99% accurate in its ability to detect the genetic defect that brings about the condition.
Down Syndrome and General Health
Although the vast majority of Down syndrome sufferers live happy, fulfilling, lives there will always be other health concerns to be aware of and deal with. At the Genetic and Down’s Syndrome Clinic the skilled practitioners will advise guide and support the parents of children with Down syndrome in addition to treating the inevitable health problems that accompany the condition.
Those born with Down syndrome have a higher propensity to also having a genetic heart condition. The clinic routinely checks Down syndrome sufferers to rule out or confirm whether this is the case. Knowing the existence of any heart defect is essential in determining the correct clinical treatment program for each individual patient.
Hearing and eyesight problems are also common in those with Down syndrome. These individuals also have greater than average instances of intestinal, thyroid and skeletal problems. The rates of leukemia, a cancer of the white blood cells, are also higher than the norm. Higher rates of red blood cells, known as polycythemia, are also common as is anemia, a lack of iron in the blood.
General muscle weakness and inadequate muscle tone, known as hypotonia, will accompany most sufferers of Down syndrome. This results in problems as the child learns to crawl, walk and sit up. The clinic offers therapy to aid the child in mastering these development skills as well as advising on exercise routines that will help the child overcome their weaknesses.
It should be noted that Down syndrome cannot be cured. However, following early, accurate testing at Samitivej Hospital’s Genetic and Down’s Syndrome Clinic early treatment programs can be drawn up to help improve the developing child’s skills and quality of life. This may include speech, physical, occupational, and/or educational therapy.
The Genetic and Down’s Syndrome Clinic has, at every parent’s disposal, professionals of multiple medical disciplines who offer unequalled support and treatment. It is their skills that have allowed many people with Down syndrome to live happy, productive lives, whilst also bringing great levels of joy and pride to may parents.
