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Know All About Genetic Testing During Pregnancy

by | January 10, 2019

Genetic testing during pregnancy is a wonderful option for taking a closer look into your baby’s health. While genetic screening tests are recommended before pregnancy, you need not fret in case you didn’t avail them. There are a good few screening tests (available in the first and second trimester) that help the parents in making conscious and informed decisions about the health of the baby. Learn more about them here.

Know All About Genetic Testing During Pregnancy
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Genetic Testing During Pregnancy In The First Trimester

In the first trimester, you’ll be screened for the risk of Down Syndrome, brain and spine problems, and trisomy 18. Blood tests and ultrasound are used generally, to detect such risks, anywhere between week 10th to 13th of the pregnancy.

If something is concerning, you go through another set of blood tests and ultrasound (if you elect for these things) to further screen you for Down Syndrome, brain and spine problems, and trisomy 18. This integrated screening is more accurate than the previous one.

There’s another layer of genetic testing during pregnancy, which happens after week 10 and is known as cell-free fetal DNA testing. This test helps determine if there is any risk of birth defect due to Trisomy 13, Trisomy 18, anomalies in sex chromosome, and Down Syndrome.

Genetic Testing During Pregnancy In The Second Trimester

The maternal serum quad screen blood test is aimed at detecting a higher risk of Trisomy 18, Down Syndrome, and brain/spinal problems. The test happens around Week 15 to 21 of the pregnancy and makes use of protein in your blood to detect the risks.

Next comes the second part of the integrated screening you went through in the first trimester. This integrated screening happens between week 16 to 18.

When you’re in the 20th week of your pregnancy, your doctor will recommend an ultrasound to check the baby’s development and detect birth defects such as heart problems, kidney troubles, and cleft palate.

There are a few diagnostic tests, like Chorionic Villus Sampling (CVS) and Amniocentesis, which help in detecting genetic disorders and are around 99% accurate. Amniocentesis is specifically used to detect the birth defect of spina bifida, wherein spine and spinal cord isn’t properly formed in the baby.

CVS and Amniocentesis tests might cause cramping, bleeding, and infection in some women. While CVS is safest between week 10 and 13th, Amniocentesis is recommended between 15th to 20th week of pregnancy. If you have any concerns about these tests, talk to your doctor about the risks before deciding.

For a detailed look into the procedure, click here.

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