NIPT: Genetic counselling

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

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.

• 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.

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:

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

• 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 genetic 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 gene variants 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 counsellor 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.

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:

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

• 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 gene variants for certain genetic conditions that could be passed to your baby.

We really want to make sure you understand some terms we use when talking about screening tests:

Detection Rate: This tells us how well the test finds the condition it’s testing for among those who actually have it. Think of it as the test’s ability to correctly identify patients with the disease.

Positive Predictive Value (PPV): This is about how many of the positive test results are true positives. For instance, if NIPT says there’s a 90% PPV for Down’s Syndrome, it means that in 90 out of 100 times it suggests ‘High Probability,’ the condition really is present. But it also means there’s a 10% chance of a ‘false positive’—where the test says ‘High Probability,’ but the condition isn’t actually there.

When we get a ‘High Probability’ result from a test, we always suggest following up with a diagnostic test, like CVS or amniocentesis, to make sure of the results.

We know there’s been some confusion about NIPT in the past, so we’ve written a blog post that breaks down the statistics behind NIPT in an easy-to-follow way. And remember, if you’re ever unsure about anything or have more questions, our team is just an email or phone call away, ready to help you out.

You may also find our NIPT PPV calculator helpful for seeing how a positive predictive value applies to your own screening result. If anything is unclear, our certified genetic counsellors are happy to talk it through with you before or after your test.

Genetic counselling before NIPT is crucial due to the many different brands, providers, and NIPT labs available. This guidance helps you understand the benefits and limitations of each option. It ensures informed decisions by addressing any questions and concerns.

Counselling provides personalised support and clarifies complex genetic information. You receive tailored advice and guidance by discussing your options with an expert. This preparation ensures the best care for you and your baby, leading to peace of mind and informed choices.

Yes, genetic counselling before NIPT is worth every penny. It can save you a lot of money by helping you make informed decisions, avoiding unnecessary tests, and ensuring the best care for you and your baby. Genetic counselling provides expert guidance on selecting high-quality, certified NIPT providers, helping you avoid cheap providers that may offer low-quality or uncertified tests.

Additionally, genetic counselling helps you understand the benefits and limitations of different NIPT options. It addresses any questions and concerns you might have, providing personalised support and clarifying complex genetic information. This thorough preparation ensures you receive accurate and reliable results.

You receive tailored advice and guidance by discussing your options with an expert. This enhances your understanding and ensures the best outcomes for you and your baby. Investing in genetic counselling leads to peace of mind, informed choices, and ultimately, better prenatal care.

A midwife provides care during pregnancy, childbirth, and postpartum. In contrast, a genetic counsellor specialises in genetic testing and counselling. Midwives focus on overall maternal and baby health. However, for NIPT, consulting a genetic counsellor is more appropriate. Genetic counsellors are trained in the complexities of NIPT and other genetic testing and can provide detailed information. Midwives are not trained in these complexities and cannot offer the same level of guidance. Understanding these distinctions helps you make informed decisions for the best care.

We recommend genetic counselling before the SMART Test® for several essential reasons. Firstly, genetic counselling helps you understand the benefits and limitations of the SMART Test®. This knowledge is crucial for making informed decisions about your prenatal care.

Moreover, genetic counselling addresses any questions and concerns you might have about the test. This personalised support ensures you feel confident and reassured. Additionally, genetic counsellors are experts in the complexities of genetic testing. They provide detailed information and explanations that are easy to understand.

Furthermore, genetic counselling helps you navigate the many different NIPT brands, providers, and labs available. We offer two types of SMART Test®: KNOVA and Genoma, both offering broader coverage than many standard NIPT panels. These tests are performed by highly respected genomic labs, ensuring accuracy and reliability. However, understanding these tests’ clinical value and complexity can be challenging. A genetic counsellor will help you navigate these options and make the best choice for your needs.

This expert guidance helps you choose the best option for your specific needs and avoid low-quality or uncertified tests. You receive tailored advice and guidance by discussing your options with a genetic counsellor. This ensures the best care for you and your baby. Ultimately, genetic counselling before the SMART Test® leads to peace of mind, informed choices, and optimal prenatal care.

Our genetic counsellor can recommend what to do if you have a high-risk combined test. Generally, you have three choices:

Our genetic counsellors are very helpful in guiding you through these options. They will explain the pros and cons of each choice, helping you make the best decision for you. With their support, you can feel confident and informed about your next steps.

• Invasive Diagnostic Test: You can opt for a diagnostic invasive test like CVS, which the NHS estimates carries a small risk of miscarriage of less than 1 in 200 (under 0.5%) for most pregnancies. This test provides precise information about the baby’s chromosomal status. However, it is often limited to checking for Down, Edwards, and Patau syndromes without additional details on the structure of chromosomes (CGH microarrays).
• Non-Invasive Prenatal Testing (NIPT): You can choose NIPT, which can screen for various conditions beyond Down syndrome. There are many types of NIPT, each looking for different genetic conditions. This option is safe and poses no procedure-related risk of miscarriage to the baby; however, it provides probability, not diagnostic information.
• Do Nothing: You can decide not to pursue any further testing. This choice depends on your comfort level and personal preferences.

A fetal medicine specialist focuses on diagnosing and managing complications in pregnancy. Conversely, a clinical geneticist specialises in genetic disorders. They work together to provide comprehensive prenatal care, combining expertise in fetal health and genetics. This collaboration ensures you receive the best possible care for your pregnancy.

Yes, if you have had difficult news from a genetic test, we can usually arrange urgent genetic counselling. We know how frightening and overwhelming an unexpected result can be, so we offer same-day, evening and weekend phone and video appointments wherever possible. Please contact us as soon as you can and let us know it is urgent, and our team will do their best to find you the earliest slot.

In your session, one of our certified genetic counsellors will explain what your result does and does not mean, talk through the options for further testing such as a second-opinion scan, CVS or amniocentesis, and support you emotionally through the decisions ahead. You can reach us by phone or WhatsApp, or book a genetic counselling consultation. This is general information, not personal medical advice — for anything urgent about your pregnancy, also contact your midwife, GP or maternity unit promptly.