Why genetic counseling is so important, after a high risk result

The very best NIPT test options don’t just provide you with an at-home kit. They go much further, with wraparound care and customer support – including a call with board-certified genetic counselors, to help you read your results.  

It’s the reason that, for team TRB, Juno Diagnostics are our first choice for at-home NIPS. Their Hazel™ and Hazel™ Plus tests provide clinical quality with at-home convenience. And, their team of licensed and ABGC board-certified genetic counselors are on hand to help us navigate, with a real-time consultation and support once our results come in. 

This is part of the service for everyone purchasing a Hazel™ test, with Juno making it super-simple to schedule your call with one of their experienced, compassionate counselors. 

What does NIPT test for?

NIPT (non-invasive prenatal testing), sometimes positioned as NIPS (non-invasive prenatal screening), screens for chromosomal conditions in a developing baby.

It primarily detects trisomies like Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13). It can also identify sex chromosome abnormalities, such as Turner syndrome or Klinefelter syndrome, and provide information about the baby’s gender.

NIPT analyzes cell-free fetal DNA from the placenta – found in the mother’s blood – and is typically offered from 10 weeks of pregnancy. While highly accurate, it is a screening tool, not a diagnostic test, and a ‘high risk’ result may require follow-up with diagnostic tests like amniocentesis.

I caught up with team Juno genetic counselors Katie Sagaser and Kelly Miller, both MS LCGC (licensed, certified genetic counselors) to ask, what happens after a high risk at-home result? 

Together, we’re covering: 

• accuracy – how accurate is NIPT/NIPS? 
• timings – when can you test at home, and how long is the process? 
• how to read your results once they’re available – and how a genetic counselor can help 

Plus, lots more. Here are your top questions, covered with Katie and Kelly.

How soon can I take an at-home NIPS test?

Katie: Once you’re pregnant and approaching 9 weeks along (counting from the first day of your last menstrual period), you can order a NIPS test from Juno whenever you like. Since both the Hazel™ and Hazel™ Plus can be used as early as 9 weeks into your pregnancy, lots of people order one (on our website or via their doctor) right around that time.

That said, many people end up testing 10, 11, 12, and maybe more weeks into their pregnancy and there are a lot of options out there. It just depends where you’re at in the journey. 

When and how will I get my results?

Katie: For the Juno community, this all starts when you physically receive your test. Because this is a medical screening, we set up a call with our customer service team for everyone using a Hazel™ or Hazel™ Plus test, to ensure you’re able to collect and return your blood test sample correctly, with all the steps followed. This is usually same-day.

Once you’ve sent your sample back to us (using the pre-paid shipping label in your kit), our lab will usually receive it within two working days. They’ll begin the testing process immediately, and results will usually be available within two to four business days from receiving the sample. 

We send an email notification straight to your email inbox as soon as your results are ready, which you can access through the myJuno portal on our site. It’s important to say that this is a very consciously designed process for our community. Once your results are ready to view in myJuno, you’ll see an option to: 

• get a reminder of which conditions are included in your screen

And from there: 

• review your results with your care provider
• schedule a call with a Juno Diagnostics genetic counselor, if you’d like, and
• view your results on your own 

This journey is completely unique to you. And while some people prefer to read their results with their care provider or a genetic counselor – for then and there support – others choose to be alone for this first step. 

Whatever you decide, every result includes a: 

• high-level summary, and 
• link to a detailed PDF laboratory report, which you can share easily with your prenatal care provider

What happens after a high risk result?

Katie: All test providers will handle next steps differently, but speaking for the Juno team and community, our support centers around: 

• genetic counseling support – by phone or video call, we’re here to help as soon as your results are ready
• a high-risk OB referral – our clinical team can help you find a local high-risk OB specialist (maternal-fetal medicine (MFM) doctor) if you don’t already have one, and facilitate urgent referrals 
• clear documentation – we can provide summary letters for your prenatal care provider, helping you work out next steps with your team

From there, patients may be offered a diagnostic testing procedure, such as an amniocentesis, or chorionic villus sampling (CVS).

 Is NIPT/NIPS diagnostic (are the results definitive)?

Kelly: No. When used correctly, the Hazel™ and Hazel™ Plus tests screen for trisomies 21, 18 and 13 with >99% sensitivity and specificity. Hazel™ Plus also screens for the sex chromosome aneuploidies Monosomy X, XXY syndrome, Triple X syndrome, and XYY syndrome with >95% sensitivity. 

So they’re highly effective screenings, but not diagnostic, and the results are not definitive. High risk results can be very concerning for our patients, but it’s important to know that they only indicate an increased chance, not a diagnosis. 

Next steps will often be to consider diagnostic testing such as amniocentesis. 

We’ve put together a couple of video explainers for next steps after high risk NIPS results, which might be helpful. Watch now for support and information on: 

• What a high risk NIPS result means
• Understanding Trisomy 21 after a low risk or high risk NIPS result 
• What to expect from a genetic counseling appointment

All of us on the genetic counseling team at Juno Diagnostics are committed to providing clear insight into genetic disease risks, and what your NIPS results might mean. This is all about empowerment – a safe space for the big questions – helping you make informed choices with a set of actionable next steps.