Genetic Testing Before Pregnancy: Types, Benefits, and What to Expect
Genetic testing before pregnancy can give couples planning to conceive useful information about certain inherited conditions. One option is genetic carrier screening, which checks whether you carry a gene variant associated with particular inherited disorders. Being a carrier usually does not mean that you have the condition yourself, but if both partners carry variants for the same recessive condition, there may be a risk of passing it on to a child. Preconception genetic testing can therefore give couples more time to understand their reproductive options and discuss them with an obstetrician or genetic counsellor. However, not everyone needs the same tests, and screening is a personal choice based on factors such as family history, previous pregnancy history and individual risk.
What Is Genetic Testing?
Genetic testing, or carrier screening, involves a blood test of prospective parents when they are planning to get pregnant or are already pregnant. According to MedlinePlus, it is done to check for any faulty or abnormal genes that may be passed on to the baby and lead to genetic disorders (1). You may be screened using your blood sample, saliva, cheek swab, skin, hair, or other body tissue (2).
In most cases of genetic disorders, the baby is affected if both the parents pass on faulty genes to the baby. This means that if you test positive and your partner tests negative, your baby may not be affected by any genetic disorder. If both of you test positive, then the possibility of your baby being affected by any genetic ailments may be 25%.
Types of Genetic Screening
You may have to undergo the following types of genetic screening:
- You may be screened to check for any kind of gene mutation, also known as genotyping.
- If you test positive, your partner may be required to undergo sequencing (which may involve more comprehensive and elaborate testing).
What Are the Common Genetic Diseases?
Some of the genetic disorders that may result from abnormal gene mutations are as follows (3):
- Alpha Thalassemia is a common genetic disease; this condition may lead to bone abnormalities, liver problems, and anaemia in a baby. In some cases, a baby with this disorder may not even survive (4).
- Cystic fibrosis is a genetic disorder that may cause severe lung damage and even lead to complications of the digestive system in a baby (5).
- Sickle cell disease is a severe blood disorder that may cause damage to the immune system, anaemia or lead other serious health complications in a baby.
- Fragile X syndrome is a genetic disease that may cause developmental delays in a baby, which may lead to mental retardation or learning disabilities.
Who Should Get Genetic Testing Before Pregnancy?
Are you thinking of getting genetic testing done before pregnancy? The Cleveland Clinic suggests the following people can also benefit from genetic testing before pregnancy (6):
- Couples planning a pregnancy
- Have a certain family history of genetic conditions
- Have a history of miscarriage
- Received an irregular result of a genetic screening test
- Planning pregnancy after the age of 35
What to Do If Both You and Your Partner Are the Carriers?
As discussed in the previous section, even if both the prospective parents are tested positive, there is only a one-in-four chance that the baby may be affected by any kind of genetic disorder. However, your doctor may like to discuss all the possible options with you. You may go in for an IVF procedure, which may help your doctor determine whether or not the foetus may be affected because of the faulty genes before it is implanted in your uterus. The other option that you have is to get pregnant the natural way and get your baby screened for any genetic abnormalities once you are 10 to 12 weeks pregnant. However, if any deformity is found, it may become difficult for the parents to take a call to terminate or go ahead with the pregnancy.
How Does Genetic Screening Work?
When bad genes are inherited from both parents, it may cause genetic deformities. However, if you have a faulty gene, then you may not have any problems, but you may be a carrier of the faulty gene. This won’t be a problem for your baby unless your partner has a faulty gene, too. In this case, there is a likelihood that your baby may have some kind of genetic disorder.
If you are a carrier, your blood or saliva samples may be taken to detect the possible diseases you may pass on to your baby. Nowadays, genetic screenings may be able to detect as many as 400 genetic disorders.
What Are the Pros and Cons of Preconception Genetic Testing?
Genetic testing may offer both pros and cons for you. Some of these are:
Pros
- It may help prospective parents make the decision well in time.
- Sometimes the prospective parents may not be aware that they may be carriers of a genetic disease, and the test results may help them learn about it.
Cons
- It may be disheartening for the parents to find out that their baby may have some kind of genetic deformity.
- It may require the couple to make a tough decision about keeping or terminating the pregnancy.
What to Expect From the Pre-Pregnancy Genetic Carrier Test Results?
You may expect the following results:
- Neither you nor your partner may be the carrier of the disease.
- If one of you is the carrier, then this does not put your baby at any kind of risk of having any genetic disorders.
- If both of you carry faulty genes, there are only 25% chances of your baby having any kind of genetic disorder.
Things to Consider Before Making Any Decision Based on the Test Results
Genetic testing may give you immense information about you and your partner’s health condition. But this certainly does not mean that genetic testing is for everyone. You may have to consider some of the following aspects before you make the tough decision of undergoing genetic testing:
- If your screening test shows a positive result, there are chances of passing the faulty genes to your baby. Hence, make an informed decision if you want to go ahead with the pregnancy.
- Think about how you will disclose the results to your family as it may lead to a lot of worries.
- You may become anxious about handling the test results and charting your further course of action.
FAQs
1. When should you get tested for preconception screening?
The best time to get tested for genetic conditions is before planning to conceive. Testing beforehand gives couples ample time to review and assess results with a counsellor and take action accordingly.
2. How long does it take to receive results of pre-pregnancy genetic testing?
It typically takes about 3 to 4 weeks to get the results for genetic screening tests before pregnancy.
3. Where to get genetic testing before pregnancy?
You can get pre-conception carrier screening done through specialised direct-to-consumer diagnostic labs, fertility and IVF centres, or professional genetic counsellors. You may also ask your local women’s health clinic or gynaecologist to refer you to a specialist.
4. How to do genetic testing before pregnancy?
You can undergo carrier screening via a simple blood test or saliva test to see if you carry genes for inherited disorders. You can talk to a doctor or genetic counsellor and discuss your family medical history to find out which screening tests is required. You can visit the clinic or lab or get an at-home kit as per availability and review the results with the doctor.
We know that anything like genetic testing can get pretty intimidating for you and your partner. However, sometimes it may be a good idea for the prospective parents to undergo this testing to establish if they can bring a healthy baby into this world. If you are still jittery, you may also seek a genetic counsellor’s help.
Also Read:
Exercise to Get Pregnant
Pre-Pregnancy Check-Up & Tests
Ways to Prepare your Body for Pregnancy
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