How To Detect Down Syndrome During Pregnancy Should Know
Down's Syndrome is a form of mental retardation that makes patients dull and virtually unable to learn. This is the most common genetic disorder in infants and is also the most easily overlooked type of ultrasound. So right from pregnancy, pregnant women need to carry out necessary tests to screen and early detection for timely intervention.
What is Down syndrome?
Down syndrome was first described in 1886 by an English doctor named John Landon Down. People with Down syndrome often have a characteristic pattern: thickening of the skin of the nape of the neck, two distant eye pits, flat surface, flat nose, low hair growth, etc
Scientists later studied and discovered that patients with Down syndrome have an extra chromosome (chromosome) number 21, also known as a person with trisomy 21.
Accordingly, each normal person will have 46 chromosomes, ie 23 pairs. Half of the chromosomes are inherited from the father and half from the mother
It is this extra chromosome that disrupts the normal development of both physical and human intelligence.
Down syndrome is a lifelong and incurable condition.
Down syndrome is a syndrome where a person has an extra chromosome (chromosome) number 21
Causes of Down syndrome in the fetus
Age of pregnant women
One of the risk factors for Down syndrome in the fetus is the mother's age. Accordingly, the risk of children with Down syndrome increases with the mother's age:
1 in 1500 when mothers were in their 20s
The ratio 1/1300 when the mother is 25 years old
1 in 1000 when the mother is in her 30s
1 in 90 when the mother is in her 40s
The ratio 1/24 when the mother is aged 45
Pregnant or having a baby with Down
In the case of a couple who has had a child with Down syndrome, the risk of the next baby is also likely to suffer from the disease and the rate falls to about 1 in 100.
Parents carry the modified gene
There are 3 basic types of Down syndrome:
Trisomy 21: this is the most common type, in which every cell in the body has three copies of chromosome 21 instead of two.
Down syndrome of Polymorphic Down syndrome: in this type, each cell has one chromosome part adding 21 or completely adding one chromosome but it is attached to another chromosome instead of itself.
Mosaic mosaic Down syndrome: this is the rarest type in which only a few cells have an extra chromosome 21
Parents do not have Down syndrome because they have the right number of genes but the child is at risk because they can carry the mutated gene of Down syndrome and the rate of increase depends on one of the mutations.
on. Usually, people with Down syndrome are rarely able to reproduce. However, about 15-30% of women with Trisomy 21 are more likely to reproduce and up to 50% of the risk of a baby born with Down syndrome.
How dangerous is Down syndrome in children?
Children with Down syndrome often have abnormal physical, physical and functional manifestations of their organs.
Typical morphological signs of children with Down syndrome are:
The head is short and small
Small and flat nose
Abnormal ear shape
Nape wide and flat
The mouth is always open, the tongue is sticking out
Legs, short arms and big, ...
Along with that, children with Down syndrome also have difficulty developing their minds and are susceptible to other diseases such as respiratory tract, blood cancer, .
.. as well as susceptibility to infectious agents. In addition, the genitals of people with Down syndrome often do not develop and are likely to be infertile.
Children with Down syndrome often have abnormal physical, physical, and functional manifestations of their organs.
Is Down syndrome detected in pregnancy?
With the continuous development of medicine, it is now possible to screen and detect Down syndrome in pregnancy. However, to get the most accurate screening, it is necessary to rely on many factors such as gestational age, nuchal translucency ultrasound, and necessary tests.
There are usually two types of tests that a pregnant mother can be assigned to perform:
Screening tests indicate the possibility or risk of unborn baby having Down syndrome.
Diagnostic tests will show whether the fetus is actually infected.
These two methods have advantages and disadvantages. For a screening test, it is not possible to give a sure answer, while the diagnostic test may give specific conclusions but there is a small risk of miscarriage.
Usually, pregnant women can start with a screening test. Then, if it appears Down syndrome is a possibility, the pregnant mother may be tested for diagnosis.
Methods to help mothers detect Down syndrome when pregnant
The ultrasonic method measures the back of the neck
Between the 11th and 14th weeks of pregnancy, women may be asked to have a blood test combined with a nuchal translucency ultrasound to help determine the likelihood of the baby developing Down syndrome.
For blood test results that may help to accept "signs" that mean proteins, hormones or other substances that may be indicative of the condition..
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