Should You Take Down Syndrome Test during Pregnancy?

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Down Syndrome Test during Pregnancy: What Do you Need to Know?

Many expecting parents wonder that if they should or should not take a Down Syndrome or chromosomal irregularity test during pregnancy. This screening test will help you to assess if your baby has the chances of developing this kind of syndrome or condition. These results can help you to find out your baby’s current condition.
But is it necessary?
It depends on many things like Mother’s age during pregnancy, genetics, and health condition of the parents. So your medical advisor must answer this tricky question. Lets see in details.

Causes of Down Syndrome

• In the human body, there are chromosomes that are a fine threadlike structure in the gene carrying cell. Almost all of the people have 46 chromosomes in each cell. These come in one set of 23 from mother’s egg and another set from father’s sperm.

• If any biological problem occurs during the very early stage of cell division, causes irregularity in the chromosomes. As an example, some babies have 47 chromosomes, in spite of having 23 pairs, this is a chromosomal abnormality, called as trisomy.

• Most of the time, when a woman who is carrying a baby with a mismatched number of chromosomes, will miscarry in early pregnancy. But with these chromosomal abnormalities, the baby can survive and can bear with lots of evolving problems and defects at the birth time, which can range from mild to severe.

• The down syndrome, which you can also say trisomy 21, develops when a baby has excess one copy of a chromosome, 21 in a some or almost all of his cells. It is the most common problem that a baby can bear with.

• People coming from down syndrome have a mild to medium intellectual disability or mental retardation.

• People who are affected with the down syndrome may have many internal body problems, such as low heart rate or even intestinal problems.

• The lifespan of such people is small ranging from 50-60 years.

What can We know from a Screening Test?

A screening test is done by taking blood samples and ultrasound measurements to test the baby’s chances of getting the down syndrome, by checking the chromosomal problems. Your baby will not get hurt by these tests because they are not invasive. We can get the following results from the screening tests.
• It can tell you the ratio of chances of your baby’s development of the down syndrome.
• If your baby has any chromosomal abnormality.
• Can identify genetic disorders.
As the women get older the chances of getting down syndrome of a baby gets higher.
It is not necessary that down syndrome comes from the family, but it’ll be a good idea if you tell your doctor that if anyone in your family is affected by the down syndrome.
As per the statistics,

A 25-year-old woman has a chance of 1 in 1200 of having a baby with down syndrome.

A 35 years old woman has 1 in 350

And a 49 years old has 1 in 10

The chances of baby getting Down syndrome increases on as you grow older. So, if you’re planning to have a baby after the age of 35, do consult a doctor. Because, the down syndrome, is dependent on the age and also genetics.

When and How can You Take Syndrome Test?

Blood and Ultrasonic Test

When you are running through your pregnancy timings of 11 to 14th week, a blood test with an ultrasound test should be done. If you are over 35 years old and have other risk factors, you must consult your doctor to take a test of foetal DNA test when in the first trimester.

Baby’s DNA Test

It has a great accuracy rate, as it works by collecting the small pieces of the baby’s DNA that circulate in your blood during the pregnancy.

Multiple Marker Screening/Quad Screening

You should also do another blood test that is known as the multiple marker screening tests or it is also known as the quad screening, as it checks the four different levels of blood substances. It can also detect the down syndrome at an accuracy rate of 80%.

Amniocentesis Test

If any of the tests reveal a threat, you need to do another diagnostic test that is amniocentesis test. There are some problems regarding these tests that can also carry the risk of miscarriage.
At the end, you need to see that ordinary result in a screening test will not give assurance that your baby may have no problems. This test gives the primary results for few abnormalities of chromosomes. A baby who is found negative in all these tests can also develop other genetic disorders.

How much a Down Syndrome Test Costs in India?

It depends on test and which hospital. But something around 2000-4000Rs quadruple blood test and around 2000Rs for the NT scan. Triple marker blood test around 3000-4000. This is just for your references.

References:
www.uptodate.com
www.parents.com

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Sapana

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