You don't need to know everything. You just need to know what you'd want to know.
If you're thinking about having a baby in the next year or so, you've probably already started thinking about the obvious things.
Prenatal vitamins.
When to stop birth control.
Tracking ovulation.
Maybe making a preconception appointment.
But there's another conversation I wish more people had before they started trying.
It's about figuring out what you actually want to know.
First, let's clear up one thing I hear all the time when it comes to genetics.
“But there's nothing concerning in my family.”
That's good news.
But a family history that doesn't raise any red flags doesn't mean there's nothing to think about before pregnancy.
Some genetic conditions are inherited in ways that aren't obvious from a family history. And some of the genetic screening we offer before pregnancy aren’t based on whether you have a concerning family history at all.
That's why preconception care can include a review of your family and genetic history as well as a conversation about carrier screening and other testing options. And when certain testing like carrier screening is done before pregnancy, there can be more time to understand the results and consider your options. (ACOG)
But here's the part I think gets missed:
Knowing what tests exist is not the same thing as knowing what you want to know.
I've been a genetic counselor for more than twenty years. Most people aren't quite sure what a genetic counselor does, and honestly, that's okay.
The simplest explanation is this: I'm the person who sits with you when the information gets complicated- but hopefully and ideally before it gets complicated!
I help you understand what something actually means, what it doesn't mean, what your options are- and most importantly; help you find the answers that make the most sense for YOU.
I don't make the decision for you. I help you make a decision you understand and can feel confident about.
And after 20+ years of doing this, I've noticed something.
A lot of people don't start thinking about these key questions until they're already pregnant.
Then suddenly there are appointments, test names, timelines, results, recommendations and a whole lot of information coming at them at once.
And when I ask:
“What do you actually want to know?”
A lot of people don't have an answer; simply because nobody had asked them yet.
So I'm asking you these 5 Q’s now. So that you can be ready when it matters:
1. What does a “healthy baby” mean to you?
I ask this in every conversation I have, and almost nobody answers it quickly. They say "healthy." I say, “ok- so what does that mean to you?”.
Some people mean no conditions at all. Some mean "healthy enough to live a good life." Some mean "I don't need to control this, I just want to be prepared." And others are confident that they don’t want to know anything in advance and will deal with any potential concerns if/when they arise.
Those are four completely different answers. None of them are wrong. But, they all lead to completely different decisions.
If you don't know your own definition, you can't tell which information you want. You'll end up taking a test that fits somebody else's description.
Which is why it's worth thinking about beforehand.
If you got stuck here: you're in good company. Most people have never been asked this question. Sit with it for a bit.
2. What would you want to know—and what would you rather not know?
This is different from the first question.
You can want information about your pregnancy and still decide there are certain things you don't want to know.
Some people want as much information as possible, whereas other only want information about conditions for which there isn't a treatment. And some would genuinely rather not know certain things at all.
I've sat with all three. Twenty years in, I have never once thought someone got it wrong. There is no correct amount of information. There's only what's correct for you.
But here's the catch. You only get that if you decide in advance. If you don't decide, a test decides for you; and you may realize afterwards that you never wanted that information at all.
So it's worth asking yourself: If a test could tell me something concerning about my baby, would I want that information?
And then: What would I do with the information if the result wasn't what I hoped for?
Because the goal isn't to collect the most information possible, rather, it is to have information that is useful to you.
If you got stuck here: that's one of the most important thing you'll learn today. These are usually the questions nobody asks out loud.
3. What's in your family health history—and do you actually know?
If your first reaction is:
“I think we're fine?”, you're not alone. But “I think we're fine?” isn't really the same thing as knowing.
Before you start trying, this can be a good time to ask your parents, grandparents or other relatives a few questions such as:
Are there relatives with developmental disabilities?
Birth defects, someone who couldn't walk or talk?
Genetic conditions?
Children who died very young?
Multiple miscarriages?
Multiple people in the family with cancer, especially diagnosed under the age of 50?
Or a pattern of something that you've always assumed was unrelated.
Sometimes one conversation fills in a piece of the puzzle you didn't know was missing and other times you learn that your family history really is reassuring.
Either way, having that conversation now vs when you're sitting in the doctor's office is much easier.
If you got stuck here: you're in the majority. Almost nobody has actually checked. Make the call this week.
4. What would you want to know- and when would you want to know it?
This is the question people often don't realize matters until they're already pregnant.
Some information can be useful before pregnancy because you may have more time to think through what the results mean and what, if anything, you want to do with them. Carrier screening is one example.
If you learn that you're a carrier for a genetic condition before pregnancy, you can test a reproductive partner and understand what that means for a future pregnancy. (ACOG guideline)
But this is where timing can matter. If you're someone who wouldn't do anything differently, it may be stressful to sit with that information until it can be confirmed later when you're pregnant. For other people, knowing in advance allows them the option to choose IVF (in vitro fertilization).
So ask yourself:
“Based on what I want- does it make sense for me to know information in advance, or would knowing this information in advance be more stressful?”
You don't have to know the full answer yet.
But it's worth asking the question while you still have time to think about it.
5. What would you actually do with the information?
This might be the most important question of all.
The decision isn't "should I take a test." The decision is "what would I do with the answer."
That doesn't mean you need to have a detailed plan. And it certainly doesn't mean you need to decide today what you would do in every possible scenario.
It means understanding that every test has a purpose, and every result can lead to another decision.
If you know the answer to that in advance; you're ready. If you don't, there's a chance you may end up with information you never agreed to receive.
In twenty years, I've watched this single question separate the people who handled this well from the people who struggled.
If you got stuck here: you're exactly where you should be. You're early- and that's a huge advantage.
So what do your answers actually tell about you?
If you answered all five easily: you're more prepared than most people who are already pregnant. You likely need very little additional support.
If you got stuck on two or more: you've identified the gap. But, nothing is wrong, and nothing has been missed yet. You simply don't know what to ask, because there is no one built into the system whose job it is to walk you through it.
And here's the part nobody tells you: some people finish this and find out they want less than they expected. They were bracing for more information than they actually want.
I see this all as useful data. Because one of the most important things I can tell someone planning a pregnancy is this:
Make the decisions that make the most sense to you, your values, and what you want.
You don't have to say yes to every test just because it's available. And on the flipside, you don't have to say no because you're worried that wanting information means you're expecting something to go wrong.
You get to decide what information is useful to you. The point of thinking about this before pregnancy isn't to make you more worried.
It's to give you more time to make decisions thoughtfully, instead of making them while you're overwhelmed.
You don't need to know everything.
You don't need to become an expert in genetic testing before you start trying.
You don't need to know which tests you'll want six months from now.
And you definitely don't need to have every answer today.
BUT... I do encourage you to start with these five questions:
What does a healthy baby mean to me?
What would I want to know; and what would I rather not know?
What do I actually know about my family health history?
What would I want to know before pregnancy?
What would I do with the information?
Those questions can give you something much more useful than a checklist.
They can give you a starting point.
And if you're planning a pregnancy, that's a pretty good place to start.
Some people would rather not think about these questions, but here's where it can cost you:
One: you find out too late. The information you'd have wanted arrives after you can still act on it.
Two: you find out something you never wanted to know. You take a test, and it gives you an answer to a question you'd never have asked.
Both scenarios happen more often than not to careful people who just were never given the chance to decide in advance.
What to do next
Answer these five as best you can. The process of going through them one by one, on your terms, will give you a lot of clarity. And then, when you have your first visit- you'll know exactly how to advocate for what you want, don't want, and get guided more appropriately to the right next step.
Sometimes the process of writing it all out is super helpful- so I've designed a worksheet with all these questions and follow up prompts to help you keep all the info organized.
This article is for general educational purposes and is not a substitute for individualized medical or genetic counseling. Your own testing options and recommendations depend on your personal, family and reproductive history.