test during pregnancy

How Accurate is the Down Syndrome Test during Pregnancy?

Mom to be? Are you stepping into a beautiful journey of pregnancy? Be gentle with yourself now! A time when a woman needs to be more attentive to her health. Several tests, a healthy diet, and care are needed to deliver a healthy baby. 

Pregnancy is an embracing phase, but late pregnancy has some risk factors too. A down syndrome test during pregnancy is vital to detect issues that may cause harm to the baby. If you are in your 30s, the chances of down or chromosome problems increases. 

This blog contains the accuracy and importance of down syndrome tests during pregnancy.

Down Syndrome Test-Overview

The down syndrome test pregnancy helps determine a child’s intellectual disability and physical and other health defects. The health problems are associated with the heart, ability to heart, or the thyroid gland.

Trisomy 21 is the other name for down syndrome. Down syndrome is one type of chromosomal disease which is transferred to the genes or DNA of either of the parents. Genes decide the baby’s height, eye color, hair color, and other traits. 

Usually, an individual has 46 chromosomes divided into 23 pairs, one pair comes from the father, and the other comes from the mother. Down syndrome is an extra chromosome that stops brain and body development.

Use of the Down Syndrome Test:

  • The down syndrome test diagnoses down syndrome in your baby. This is mainly common when a woman conceives after the age of 30 or after 30. 
  • Your doctor recommends the blood test for Down syndrome for women who have crossed the age of 30. The risk of a baby catching up increases with the increasing age of a mother. 
  • A baby can also have down syndrome if you have a family record of genetic issues. 
  • An early test report helps plan the right medical support for the baby.  The down syndrome test is not for everyone, and it requires the concern of both partners before going for the test.

Result of the Test and Its Accuracy:

The test result concerns the formation of a child’s face and body. Besides, it also shows defects related to the heart or other internal organs. The test is required when the baby possesses the following symptoms:-

  • Deformed nose or face.
  • Improper formation of eyes.
  • Tiny mouth or ear.
  • Small white mark on the eye.
  • Muscles are not properly developed.

The test shows accurate results to think about how to plan for the medical health care of the baby.

Categories of Down Syndrome Test

There are two types of tests, one is the screening test, and the other is the diagnostic test.

The types of diagnostic tests are:-

  • First Trimester Screening Test:-  This is a blood test that measures the level of proteins in the blood of pregnant women. If the range is above average, the baby is likely to get down syndrome. The first screening test includes imaging and ultrasound to check for the signs of down syndrome in the baby. The test is usually conducted in the 10th or 14th week of pregnancy.
  • Second Trimester Screening Test:- It is also a type of blood test that checks for substances other than proteins in the blood. Besides, a triple screening test contains 3 components and is conducted during the 16th or 18th week of pregnancy. Similarly, a quadruple screening test checks four different types of components during the 15th or 20th week of pregnancy. 

If the test results show a higher chance of down syndrome, then you need to take specific other diagnostic tests to confirm and eliminate higher risk. 

The diagnostic tests include:-

  • CVS or Chorionic Villus Sampling Test:- In this test, a placenta sample is taken to check for the chromosomal disorder. The test is conducted during the 10th and 13th week of pregnancy. 
  • Amniocentesis:- A sample of amniotic fluid is taken for proceeding with the test to detect any sign of the down syndrome. It is usually recommended in the 15th or 20th week of pregnancy.
  • PUBS or Percutaneous Umbilical Blood Sampling Test:- As the name implies, the blood sample is taken from the umbilical cord. The test is conducted between the 18th and 22nd pregnancy week. 

Preparing Yourself Before the Test:

A pregnant woman must take the doctor’s advice before going for the test. The doctor will guide you about the benefits and risks of the test for Down syndrome in pregnancy.

There is little risk involved in a down syndrome test, and you may experience slight pain when going through the test.  CVS, PUBS, and amniocentesis tests are safer and carry little risk of miscarriage.

What does the test result mean?

The test shows whether your baby has a higher chance of Down syndrome or not. If the test results are not normal, you need to take another diagnostic test to get confirmation of the disease.  
Note:- It is better to consult a trained and professional genetic counselor before you take the test. You may also take their help after you get the test result, as they will help you understand it appropriately.

Additional Info About The Down Syndrome Test

The upbringing of a child with down syndrome is arduous but also fruitful. The help from the expert can help your child to reach heights in their life. With their help, they could also lead healthy and happy life. 

Keep in touch with your health care service provider to discuss how you can raise and help them lead happy lives.