Screenings & SneakPeeks & Scans, Oh My!

Written by Shay Gabriel

Shared from Shay’s personal collection of Pixel photos

our anatomy scan

We're currently 22 weeks pregnant, and we had our anatomy scan this past week. We're so grateful to report that all appeared to be well with our sweet baby!

As our ultrasound appointment approached, my husband Matt and I reflected a lot on our past ultrasound experiences and how this pregnancy, ultrasounds have been a much more enjoyable (and healing!) experience.

So I thought I'd share some more context from our journey and why we've chosen to have this anatomy scan — as well as we had chosen not to do a genetic screening earlier in this pregnancy.

Now, we've known for awhile that we're pregnant with a baby assigned female — how? Because we chose to go with a SneakPeek blood test this time around, instead of a genetic screening...Why? Because we are one of those families who has a horror story related to genetic screening with an NIPT (“non-invasive prenatal testing” — sometimes described as NIPS to replace “testing” with “screening”). In the first trimester of my previous pregnancy (with our daughter Evie, who is now 28 months old), we received terrible news just after my NIPT blood test was administered.

notes from our prior pregnancy

In short, our genetic screening results for Evie's pregnancy came back high risk for Monosomy X (a single sex chromosome), aka Turner's Syndrome (a condition that is survived to birth about 1% of the time), and the results were misreported to me over the phone by someone from the OB office where I was receiving care. They told me, "I'm so sorry...these tests are highly accurate."

False. NIPTs, while they may be highly accurate at detecting some chromosomal abnormalities, are not highly accurate with others — including Monosomy X. In my case? The "high risk" results were actually a 50/50 chance of having Turner's Syndrome. A fact I discovered not from my provider, but by researching by myself after days of grieving alongside my husband. Would our baby survive to birth? If she did, how intensely would she need to be medically cared for throughout her life? Would we need to induce early or even schedule a cesarean to avoid common complications under such circumstances? There was a lot to dig into if we were to make the most informed decisions for our baby.

And so we transferred to Maternal Fetal Medicine, where we braced ourselves for potential bad news during every frequent ultrasound. By 20 weeks pregnant, I had opted for amniocentesis, a diagnostic test that would confirm whether our baby, Evie, had only one sex chromosome. Our results came back: Evie had two X chromosomes. No chromosomal abnormalities. False alarm.

The experience was traumatic, and one I would not wish upon anyone else. That's not to say that no one should ever consider an NIPT. It's just that they should mindfully consider it alongside full information. Information that should come from the provider who offers the genetic screening, which, unfortunately, isn’t always the case.

what you should know before consenting to a nipt

I have many issues with the way NIPTs are often flashed before unsuspecting parents. Things we should all be counseled on before consenting to an NIPT include:

• A full panel NIPT is not just a "find out the sex of your baby" test. I hear people refer to NIPTs as simply a “gender test” allll the time. It's essential to understand what you're actually consenting to and how the screening actually works. And even if you just choose to find out the sex of the baby using an NIPT, you may receive high risk results for monosomies or trisomies. You're not necessarily just finding out “It's a boy!” or “It's a girl!”

• The NIPT might not be covered by your insurance, at all, despite what a provider might otherwise suggest. We were told by the nurse who "briefed" us on booking the screening that it would be covered by our insurance. It wasn't. We paid out of pocket for false traumatic “news” followed by months of unnecessary distress.

• Some results are in fact "highly accurate" with NIPTs. In short, some things are hard to goof, like an extra chromosome. A missing X chromosome, as with our case? That's possible from a poor blood sample that simply doesn't pick up remnants of both chromosomes floating in the pregnant person's blood. Did anyone tell us there could be a poor sample leading to high risk results before we chose to do the NIPT? Nope.

• You'll need to advocate for your right to full information rather than assume your provider has briefed you on everything you need to make an informed choice (no shame there — it’s a learning curve! Our NIPT experience was one experience that taught me this lesson firsthand, at a time when I was used to blindly placing my trust in my OB or other medical professionals). Pro tip? Use the BRAIN tool! "What are the benefits of taking an NIPT? The risks? Any alternatives? Is there a benefit to waiting to take the screening? What might happen if we say no to the screening altogether?" Asking questions like this can help you really flesh out whether the NIPT is the path you want to take to get the insight you’re interested in.

• Find out what would happen if you do receive high risk results. I'd encourage anyone to ask their provider, "If high risk results come back, how will that be shared with us/who will report them? What support would be available to me in such circumstances? Would we have access to a genetic counselor?"

Which leads me back to our current pregnancy...

what we wanted this time around…

1. We wanted to know the sex of our baby early so we could plan ahead logistically. (e.g. Would our small unit in our multifamily home sustain our family long term, or would we find the need for a separate bedroom as our children aged? Would we need to have discussions around the evidence on intactness vs circumcision? We wanted to take advantage of the gift of time with these and other decisions!)

2. We did not want to endure unnecessary trauma with an NIPT again.

3. We did want to feel as informed as we could be when it came to preparing a birth that takes any medical needs into account (particularly because our ideal and intended birth plan is to give birth at home...if we were to discover that there were any concerns with our baby's health, we might change course — as we learned was possible from our experience with Evie)

So what would we do? Perhaps you have already figured that out based on how I opened this post...

Note that nausea band! Shared from Shay’s personal collection of Pixel photos

our informed decision

For us, what felt best was to take an at-home SneakPeek test once I was feeling well enough. That, paired with an anatomy scan around 20 weeks pregnant. The way we saw it,

• the SneakPeek would tackle our logistical considerations around our house and newborn care decisions. (It only looks for the presence of a Y chromosome and reports male or female accordingly. Just beware of the possibility of contaminating the blood test with the DNA of anyone who has a Y chromosome!)

• the anatomy scan would likely reveal any concerns that would change the course of our birth plan.

• and, we would dodge the darn NIPT and any potential false alarms associated with it.

Now, if our anatomy scan had presented anything concerning last week, we could have followed up with an NIPT for more specific insight instead of going for the higher risk, invasive amniocentesis. Taking information from both the NIPT and ultrasound in congruence can paint a more accurate picture of what’s truly going on with baby. But by waiting until after the anatomy scan to consider an NIPT, we would have avoided the painstaking, months-long wait we endured with Evie between receiving our NIPT results in the first trimester and being able to investigate more thoroughly in the second trimester.

This is the plan that we prepared this time around, having been well informed about benefits, risks, and alternatives; following our intuition; and based on experience. That doesn’t mean it’s the best approach for everyone, and you’ll have to decide what’s best for you!

final takeaways

If you are considering whether to consent to an NIPT, I encourage you to treat this as one of many opportunities to practice informed choice. Consider your options, your personal circumstances, and what your intuition is telling you. Ask the questions, do the research, and go with what feels best for you.

There is no one right way to approach the many (many, many) options to come throughout pregnancy, childbirth, and parenthood. And I feel the need to qualify that statement with the following: A provider may not actually present your care options as if they are indeed options. They may be more likely to go with their flow of what's considered "normal protocol” without even thinking to present you with information and a choice. They may even tell you "Now we're going to do xyz” rather than, “Would you like to do xyz?” Unfortunately, this isn’t at all uncommon throughout pregnancy, labor, and beyond. Knowing this can help equip you to advocate for yourself, to feel more empowered and supported, and to have a more positive experience in which you can more easily come to terms with anything that’s taken place.

If you take anything away from my shared experience here, let it be this: You have the right to informed choice. Don't forget to use the BRAIN tool! And consider adding a doula to your prenatal care and birth team — they'll equip you with information and empower you to make informed decisions that suit your unique circumstances.

Wishing you all the smoothest pregnancies ahead!

XO,

Shay

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Photo by HelloAlyMay

Shay Gabriel is the content director at Sprout and Blossom whose love of parenthood and psychology has merged into a super-obsession of all things birthy and baby. She believes an informed experience lends to an empowered experience, no matter where you are along the journey. She’s pictured here with her goofy gal, Evie Claire.