NIPT: Genetic counselling

A genetic counsellor specialising in pregnancy and fertility is a healthcare professional trained in genetics and counselling. They focus on assisting individuals and couples during preconception, pregnancy, and the postnatal period. They help assess the risk of inherited conditions, interpret results from prenatal screenings like NIPT, and advise on genetic testing options.

These counsellors, working together with fetal medicine specialists, provide crucial support in navigating the complex landscape of genetic information, helping families to understand their options for family planning, prenatal screening, and managing potential genetic risks to ensure the best possible outcomes for both parents and their future children.

Genetic counselling before and during pregnancy helps expectant parents understand how genes might affect their baby’s health. This includes:

• Looking at family and health history to figure out if there’s a chance the baby might inherit certain health issues.
  
• Teaching about how genetic conditions are passed on, what tests can be done, how to deal with or prevent these conditions, and where to find more help or information.
  
• Offering advice to help parents make choices about genetic testing and how to prepare for any health risks the baby might face.

This service aims to give parents the information they need in a simple way, helping them feel ready and supported as they plan for their baby’s future.

Genetic counselling is like having a detailed chat with a specialist who helps you understand how your family’s health history might affect your or your baby’s health. Here’s a simple look at how it works:

• Sharing Stories: You start by talking about your family’s health history. This helps the counsellor determine if there are any health patterns you should be aware of.
• Learning Together: The counsellor will explain how genes work and talk about conditions that could be inherited. For example, they might discuss Non-Invasive Prenatal Testing (NIPT), a blood test you can take during pregnancy to see if your baby is at risk for conditions like Down syndrome, or carrier screening tests, which can tell if you or your partner carry genes for conditions like cystic fibrosis (CF).
• Talking About Tests: If there are tests that might help, the counsellor will tell you about them, how they work, and what the results could mean. This part is all about giving you the info you need to decide if you want to take any tests.
• Supporting You: It’s a safe space to talk about how you feel and any worries you might have. The counselor is there to listen and help you through it.
• Making Decisions: The counsellor helps you consider the pros and cons of testing based on what’s important to you. They’re there to support you, not to tell you what to do.
• Help Along the Way: The chat doesn’t stop after you decide about testing. The counsellor will be there to explain test results, discuss what comes next, and point you toward more help if you need it.

In this journey, you’re not alone. Genetic counselling is about getting personalized guidance to navigate the genetic aspects of pregnancy and fertility, ensuring you make the most informed decisions for yourself and your future family.

Here’s a comprehensive list of questions you might consider asking our geneticist about NIPT:

1. What does NIPT screen for? Ask about the range of conditions, including common chromosomal abnormalities, single-gene disorders, sex chromosome issues, microdeletions, and more.

2. How accurate is NIPT? Inquire about the test’s reliability for detecting different conditions.

3. What will the results tell us? Understand what you can learn from the outcomes and their implications.

4. What happens if the test results are positive or unclear? Discuss follow-up steps and options for further testing.

5. Are there any risks associated with NIPT? While non-invasive, it’s good to know every detail.

6. How does NIPT compare to other prenatal tests? Gain insight into why NIPT might be recommended and how it fits with other screening or diagnostic tests.

7. When and how will we receive the results? Timing can be crucial for your peace of mind and planning.

8. What are the costs, and can the NHS perform NIPT in your case? Financial planning is an important aspect to consider.

9. Considering our family health history, how relevant is NIPT for us? Get personalized advice based on your specific situation.

10. Can NIPT provide information about the baby’s sex or other genetic traits like blood group? Some tests offer these details for those interested.

11. What do extended NIPT panels cover? Dive into the specifics of tests for a broad range of genetic conditions.

12. How do different NIPT brands and providers compare? Each may offer unique tests or have different strengths.

13. What are the pros and cons of various NIPT options? Discuss the benefits and limitations to find what’s best for you.

14. Should we also consider additional genetic tests, like carrier screening? Other tests can complement NIPT for a comprehensive view of your baby’s genetic health.

15. What causes ‘no call’ results, and what do we do if that happens? Understand why sometimes NIPT doesn’t give a clear result and what the next steps are in that scenario.

16. Who is eligible for NIPT, and are there cases where it’s not recommended? Discuss whether NIPT is suitable for your specific situation.

The best time to talk about the Non-Invasive Prenatal Test (NIPT) with our genetic counsellor is around 8-9 weeks into your pregnancy. Here’s why this timing works well:

• You Can Decide Early: Talking early in your pregnancy gives you plenty of time to think about whether you want this test, which can be done starting at 10 weeks.
• Get Ready for NIPT: Chatting before the test can help you understand what to expect and what the test can tell you about your baby’s health.
• Think About Your Next Steps: It’s good to think ahead about what you’ll do with the test results, whatever they may be.
• Learn About More Tests: It’s also a chance to hear about other tests you might consider during your pregnancy, all in one go.
• Considering Carrier Screening: Some parents may also consider having carrier screening tests along with NIPT. These tests can help you find out if you or your partner carry genes for certain genetic conditions that could be passed to your baby.

This early chat helps make sure you’re informed and ready for whatever comes next, making your pregnancy journey a bit smoother.

When your NIPT shows a high chance of a genetic condition, our geneticist can help you understand and decide what to do next in a simple way:

1. Explaining Your Results: They’ll break down what the results mean, clarifying that “high chance” doesn’t mean certain, just that there’s a higher risk.

2. Sharing Info on the Condition: You’ll learn about the condition flagged by NIPT, like how it might affect your baby and what to expect, all explained in easy-to-understand language.

3. Talking About Next Steps: They’ll tell you about more detailed tests you can do, like CVS or amniocentesis, to get clearer answers and help you think through whether you want these tests.

4. Second-Opinion Scan option explanation: Getting a detailed ultrasound from an expert can spot signs of the condition, like heart problems, which can give you even more information. This second-opinion scan can be a big help in understanding what’s going on and making decisions.

5. Offering Personal Support: Every family is different, and our geneticist will listen to you, answer your questions, and offer support based on your needs.

6. Helping Plan Ahead: They can guide you on what comes next, whether that’s planning for your baby’s care or thinking about your next steps in family planning.

7. Finding More Help: You’ll be directed to support groups, specialists, and information that can help you feel less alone and more informed.

8. Supporting Your Feelings: They’re here not just with facts but also to support you emotionally through this tough time.

Our geneticist is here to ensure that you have all the information and support you need to make the best choices for your family, clearly and understandably.

Preconceptional genetic counselling is like getting a roadmap for your future family’s health before you start the journey. Here’s why it’s helpful:

• Knowing About Family Health Risks: It’s a chance to examine the health histories of both partners’ families. This helps determine whether there’s a risk of passing certain health issues to your baby.

• De Novo Mutations: Sometimes, health issues that weren’t in the family can appear for the first time. While not everything is predictable or preventable, knowing about these can help you make choices about your pregnancy.

• Reducing Risks: You’ll learn if there are ways to lower the chances of having a baby with genetic issues. Not all conditions can be avoided, but being informed helps you plan better.

• Carrier Screening Tests: These tests check if you or your partner carry genes for conditions like cystic fibrosis without having the condition yourselves. Knowing this helps you understand if your baby could inherit these conditions and what options you have to avoid passing them on.

• Exploring NIPT Options: Besides carrier screening, you can learn about Non-Invasive Prenatal Testing (NIPT) options available during pregnancy. NIPT can screen for genetic conditions like Down syndrome early on, offering peace of mind and more information for decision-making.

In simple terms, this counselling gives you important insights and advice about having a healthy baby, including what tests might be helpful before you get pregnant and early in the pregnancy.