I recently had my appointment with Genetics – this is something that is recommended my maternal fetal medicine when a cleft lip (or palate) is a finding on ultrasound. It likely would also be suggested with other anomalies or ‘abnormal’ findings that are not ruled out.
I had read several posts by others in the Cleft Mom Support Group on Facebook about what to expect from this appointment, so I had a vague idea but to be honest my knowledge of a genetics appointment was limited to this information, what I “assumed” I knew about how it would go, and what I had seen in medical reports.
I promised to take you all on this journey with me so I thought it might be helpful to provide a simple overview of what the appointment was like (within the constraints of COVID) and how you might “prepare” for one – because I know it can be a bit nerve wracking. Trust me.
What to Expect From a Prenatal Genetics Appointment
Obviously, expectations can be slightly different when it comes to why you were referred prenatally. Generally speaking you would be coming from several routes: 1) your prenatal screening (NIPT for example) results showed a high-risk result and your doctor or specialist recommended follow up with genetics; 2) your NT or anatomy ultrasound showed an abnormality/anomaly or questionable result and as above, a genetic appointment was recommended; 3) you have a history of some type of genetic or chromosomal difference or a history of pregnancies with one, so you doctor/specialist recommended you see genetics. I am sure there are other pathways I don’t know about, but these are probably of the majority.
Let me start off by saying, that like most healthcare related things right now, a genetics appointment is slightly different during a pandemic than it would have been prior – simply because you are more than likely to be seen virtually. Personally, I had my appointment this way via Ontario Telemedicine Network (OTN). This involved a video chat with the geneticist on my case. In some places, this visit may be in person prenatally but in most cases given the current situation I would say it’s probably safe to assume it would be done virtually since generally speaking, a physical examination wouldn’t be needed at this time.
You attend your appointment, meet your geneticist or genetic counsellor, and they start out by asking you some questions about your own personal medical history, your partners/co-parent (if applicable; I think in a donor situation of any type they would be sent this history from the fertility clinic/etc), and then your larger family history (as well as your partners or co-parents). Any major medical issues are asked about. You are also asked (or I was in my case and have heard it is the same for others) if you were in a consanguineous relationship with the co-parent/parent of your child (meaning, if you are related). I was also asked about any other children I had and their development, as well as my current and previous pregnancy history.
After this, I was given an overview of cleft lip, how it can happen, and any genetic or chromosomal differences it may be related to. I was provided with the information that approximately 2/3 of isolated cases are non-syndromic (not related to genetic or chromosomal differences or syndromes) while approximately 1/3 are. These numbers appear to be slightly different depending on where you look (the numbers I’ve given there were from my provider, however the CLAPA website suggests 15% of cases roughly are related to syndromes which is slightly different). I was also given information on the overall prevalence (how common something is) of cleft in the population (about 1 in 700).
I will not go into all the specific details about clefts in this post, but I do plan to do some informational posts in the future because I think being educated about clefts is valuable not only to cleft parents, but also to everyone! It’s important to be knowledgeable so we can openly talk about clefts and not be scared to approach the subject (and also be aware of how to speak to people about clefts).
My geneticist also explained some common syndromes and the trisomies that cleft can be related to. To be honest, receiving this information (despite me already having known it from my own reading) was triggering. It reminded me of the recent trauma I experienced with the anatomy scan and my fears, and although I could cope much better it still was not particularly pleasant to be reminded of – that being said it is important information to know and my provider approached it well.
Finally – we entered the ‘end’ of our appointment where we discussed the plan – again, this was another particularly triggering moment for me. I believe your provider is required to present you with all the options. For me it was: 1) continue pregnancy with no more testing; 2) continue pregnancy with non-invasive and/or invasive testing involved; and 3) terminate. I did not want to hear this, but I understood why it was brought up. Despite understanding, it didn’t make it any easier to hear it and I’ll be honest and say it made me cry after the appointment. I was prepared to hear it, but it doesn’t matter. I just didn’t want to despite understanding why.
Anyways – as baby’s cleft lip appears to be isolated based on 2 scans, I plan to follow step 2. We went over my testing options – NIPT, fetal echocardiogram for non-invasive and amniocentesis for invasive at this point. I have decided, for the time being, to pursue the non-invasive techniques first. I did my NIPT already this week (pending results) and had previously done an early first trimester screening which was low risk (1 in 20000 risk of trisomy 21 or 18). I decided to pursue the NIPT (if you read my last post, I actually requested this from my MFM) because of the Trisomy 13 testing and possibility to see other potential chromosomal issues. As a reminder, it is not diagnostic, read my post here on screening.
The only test that would be diagnostic at this point is the amniocentesis. I have decided (with my husband too) to wait to do this if other abnormalities show up on any scans (follow up US or echo) or if we get any irregularities on the NIPT. It is definitely in the back of my mind – the diagnostic aspect of it makes it a good tool, but to be honest I am a bit scared of the procedure despite the risks being low (<1% increased risk of miscarriage). My geneticist told me I could choose to pursue it at any time and they do them at my local hospital once a week, so it’s definitely an option that remains there for me if I want to pursue it.
I will also be doing the non-invasive fetal echocardiogram – the geneticist told me that I would get the results at the appointment which was definitely nice to hear. I like when I don’t have to wait!!
I also have a consult to be booked with Sick Kids Cleft Lip/Palate team and already have a consult booked with the paediatric team at my hospital.
That was all done within my genetics appointment – health history/family history; overview of condition or suspected condition and possible causes; pathways or options; and when you select one and your specific choices within it, you set up a plan and will likely get referrals as are appropriate for your particular situation. Overall – the appointment is very informative. It was triggering at times for me, but otherwise a positive experience especially retrospectively when I can reflect on it without the interference of my emotions. The goal is to gain information and provide information, and perhaps gain a better understanding of what is going on in the long run.
I will have a follow up once my NIPT and echo results are both back in.
How to Prepare
There isn’t much to do, but if you read above you can see the appointment is both emotional and detailed in a way. My appointment was about 45 minutes, but some may take longer especially if you have a lot of follow-up questions or concerns.
My suggestions for preparation would be:
Attend the appointment with your partner/co-parent/a loved one for support. Especially if it’s virtual and you can have this option. I attended mine alone since it was during work hours, but I would have felt better if my husband was there too. It’s also nice to have a second set of ears for the information (especially because it can be emotional).
Know your family histories! For both sides/parents. I was only asked as far back as my parents, their siblings and any cousins – so it’s not too extensive but try to be aware of any major medical conditions and any developmental issues. Write it down if you need to because in the moment it can feel overwhelming to have to recall it. I also understand that this can be hard if you don’t know one or both of your parents – that’s ok, just let your geneticist know this!
Remember the goal/purpose of the appointment. It isn’t meant to scare you (it may but that truly is not the purpose) but to provide you with as much information as possible. That is also the goal of any follow up tests/appointments or referrals. For them to gain information on you and the issue; and for you to gain information about the possibilities. This can be hard to keep in mind again, because of how emotional the appointment my feel to some of us. That’s why it’s nice to have a support person there to help you stay focused.
It can be emotional and things you may not want to talk about or think about may be brought up. Again – a second pair of ears at this time or a second brain to think can be helpful for this. Remember the purpose, and don’t be afraid to discuss any options indepthly. Remember that it is always a personal decision. I suggest asking questions to gain as much information as possible. If you’re not into invasive testing, explore all your possible non-invasive options if you can or just go for the invasive. Again, personal choice and you need to ask questions, gain an understanding and decide where to go. You’re not alone so use your provider as a resource for factual information about any tests/procedures and the suspected condition itself as well. Make an informed decision and go from there. If you don’t feel informed, get more information from your geneticist, your specialist or your main care provider as needed.