What is Genetic Screening and Should You Undergo the Process?

This guest post is an article specially written for postpartumtogether.com by Alison Woods

There are always risks to pregnancy and some of them are linked to genetics. Even though birth defects are only found in 1 out of every 33 births, it can be helpful for mothers and mothers-to-be to go through a genetic screening. These tests performed before and during pregnancy can help parents understand the possible conditions that could complicate the pregnancy and the baby’s health.

Before taking genetic screening tests, you must first consult with an obstetrician-gynecologist (ob-gyn) and genetic healthcare experts on which tests are appropriate for you. Nurses, who are highly involved in the pregnancy, can also suggest, plan, implement, and even administer screening tests that can benefit your health and the baby’s. Genetics nurses are practitioners who have passed their BSN, and those who have this qualification are trained to evaluate your family's medical history for any risk of inheritable diseases. Genetics nurses, along with genetics counselors and other genetic healthcare experts, can work hand-in-hand with your ob-gyn in prescribing genetic diagnostic tests, which will be discussed here.

Types of Genetic Screening Tests

There are over 1,000 genetic tests available for use, so expectant mothers may get overwhelmed! However, healthcare professionals most frequently conduct the following genetic screening tests for moms-to-be:

1. Blood Tests

Blood works can be administered before and during your pregnancy for carrier screening. This type of test can determine if you are carrying a gene for a disease that can be passed down to your child. Your blood sample can also be used to conduct Cell-Free DNA screening to assess your child’s risk for Down’s Syndrome, Trisomy 13, and Trisomy 18.

2. Chronic Villus Sampling

Chronic villus sampling is usually performed in the first trimester of your pregnancy to detect chromosomal abnormalities and other genetic diseases such as cystic fibrosis and sickle cell anemia. It's recommended for mothers who will be 35 on their due date and who have a history of birth defects in the family and abnormal genetic test results prior.

3. Amniocentesis

Amniocentesis is usually prescribed for couples who have been identified as carriers for autosomal recessive disorders and other inherited disorders, like Huntington disease, TaySachs disease, and even congenital heart defects. If your family has a history of those conditions or if you have abnormal ultrasound findings, it’s recommended that women go through this test.

Things to Consider Before Undergoing the Tests

1. Family Medical History

If you haven’t already, take the time to gather information regarding the medical history of both your family and your partner’s family. Your medical provider will be able to guide you better once they know all the possible genetic conditions that you need to look out for.

2. The Schedule of the Tests

Some genetic screening tests are invasive, so moms-to-be should take their time to rest and recover after an exhausting procedure. Most importantly, some tests can only be done in specific trimesters. For example, chronic villus sampling is done within your 10th to 12th week of pregnancy, while amniocentesis can only be performed in your 15th to your 20th week.

3. The Risks of Prenatal Screening

As an expectant mother, be aware of the risks of prenatal genetic tests. Most medical practitioners prefer prenatal blood tests over amniocentesis or chronic villus sampling because these more invasive tests can cause physical pain and carry a slight risk of miscarriage. It is normal to experience worry and anxiety while waiting and also after receiving the results. Having a good support system as well as a trusted healthcare provider can bring ease throughout the whole process.

Getting a Genetic Screening Test

Moms and their partners take various factors into account before getting a genetic screening test. If you and your partner fall under these categories, it is recommended that you consider getting screened:

1. Your age is above 34

2. You and your partner may be carriers for genetic diseases

3. You got a concerning result from a prenatal screening test

4. You experienced two or more miscarriages

As a mom, we believe you know and want what’s best for your child and take that into account when choosing whether or not to have genetic screening in pregnancy. As an expecting mother, you can learn more about your baby's health and condition through these genetic screening tests.

Article was specially written for postpartumtogether.com by Alison Woods