Partial monosomy 18 / Terminal deletion - anyone else out there?

[agiochook]

This is my first post, so please bear with me. I'm just looking for others who may have experienced what I'm going through, and I think it's important to lay out all the facts:

• I am 29 years old, this is my first pregnancy
• Up until 3/25/2020, everything was progressing perfectly. All test results normal / low-risk, including NT scan and NIPT
• We are expecting a boy

My 20w anomaly scan was on 3/25 and found the following:

1. Turned in or possible club foot / feet (I have been given varying information on whether it is one foot or both). NOTE: my husband and his brother were both born with at least 1 foot if not both feet turned in, which I didn't know at the time of the scan.
2. Potential hand issue (radial or ulnar deviation, can't recall which)
3. Slight echogenic / bright bowel
4. One brain ventricle slightly enlarged

I have since had an amniocentesis.

• Preliminary results were clear (the issue is not Down Syndrome, Trisomy 13, Trisomy 18, or the other most common issues that are tested for preliminarily)
• The karyotype came back last night with a partial terminal deletion of chromosome 18. This is a form of partial monosomy, from what I gathered from the doctor.
• The doctor said that we will both now be tested to see if we also have this deletion. They are also sending the final sample from the amnio for the full microarray.

Everything I've Googled (and I know, Google is NOT my friend!) is that this type of deletion isn't common but is associated with a variety of issues - including physical and mental developmental delays and specific facial features. What I'm wondering is whether there are others out there with a similar experience directly related to chromosome 18 or whether there is anyone out there with an experience that led to a fairly 'normal' outcome. For example, if my husband is a carrier of this abnormality, but is entirely healthy / normal, is it possible that my son could be as well? I ask that because my husband's impression from speaking to the doctor is that we will have these blood tests done because it's possible one of us is a carrier (he is assuming it's him because of his foot issue at birth haha) and that our son simply has the exact same manifestation of that issue - no more, no less. Google made me feel that this is an impossibility, but what do I know?

I want to thank you all in advance for taking the time to look at this and provide your experiences. Ever since this potential issue first became known to me, I've actually found great comfort from the posts on Mumsnet. Even though they don't all have the traditional 'happy ending' the loving mindset I've seen from many as they face difficult situations is comforting. Thank you

Usually 'misspellings' in someone's genetic code mean a fault .. it could be that it's just his foot and that can be fixed but be aware there are lots of children out there with mis spellings and have a myriad of issues ranging from mild to severe .. there is a charity called SWAN ( syndrome without a name ) and undiagnosed.co.uk which may be able to give you some answers .. have you been offered an appointment with a geneticist ?
I have a swan by the way ..

@oohnicevase Thanks for the reply I will definitely look into SWAN and undiagnosed - thanks for the references!

I just went and picked up the actual report from the karyotyping, since the full karyotype wasn't something that either I or my husband remembered after the phone call from the doctor last night. Son has 18q21.2 deletion. I do not know if it is mosaic, or if that has even been ruled in or out. I think that might require the full microarray in order to determine, but again - not a geneticist!

We were referred to a geneticist and will probably hear from them tomorrow to set up a call to discuss our DS's future outlook.

Thanks again for your reply, it is truly much appreciated.

I don't want to scare you but my son isn't that badly affected in that he can walk ( he walked at 3) and can talk ( a bit ) but it's still a hard life .. of course I love him but he controls our lives and will live with us forever ..
everything has been a fight thus far to get him what he needs and it's all very difficult ..
Of course if your husband has the same genetic issue and is fine then there is your answer . Just do your research and ask the geneticist the facts. Good luck

How are you getting on @agiochook? We’re expecting a baby with 22q deletion syndrome in a few weeks.

@stanley10 I'm so sorry for the delay in replying to you. I had a difficult time logging in for some reason!

Congratulations on your upcoming addition to your family I hope everyone is well!

After my initial post, I had a fetal MRI. We now have a case coordinator, neurologist, and geneticist assigned to us, in addition to my OBGYN and perinatologist. The neurologist told us that based on what they saw in the MRI, our son is likely at the most severe end of spectrum for 18q deletion. They believe he is probably missing one of the 'critical genes' associated with the deletion, which causes severe developmental issues (he may never mentally develop past the age of 12 months). However, we are still waiting on the results of the microarray from the amniocentesis (it has been 6 weeks!) so we don't actually know for sure whether he is missing that gene or not.

Overall, the doctors we have dealt with have been pleasant and compassionate. We have certainly had our fair share of veiled questions about whether or not we will keep the pregnancy (we are!) but we have shut those conversations down quickly, as it is not at all aligned with our beliefs to terminate.

I'd love to hear from you how you have managed with the news of a deletion of this sort. I hope that you have found good sources of support from your doctors, family, and friends, since I've come to rely heavily on all of those people in my life lately. My husband and I were lucky enough to be able to take a few days off of work as soon as we found out so that we could grieve, tell our family and friends, and begin to cope with the situation. While I'm certainly still sad, and have my moments of jealousy of all those who will never experience something like this, I know that our son will be a blessing beyond our wildest dreams. I look forward to him being here!

I would love to hear from you, @stanley10. Wishing you all the best.

@agiochook @stanley10 Its so reassuring to read about women in the same boat (particularly because, until stumbling upon this thread), all I've found to read are weighty academic research articles!
I had NIPT about a week and a half ago as standard and it came back as positive for monosomy/partial monosomy 18 - so rare that there's no available data regarding reliability etc. I honestly wasn't expecting anything beyond a 99% positive or negative for the three trisomies...so its been a shock to say the least.
We've now been scheduled for an early 16 week anatomy scan (+ probably amniocentesis) on the first of July. But given the lack of info, I'm really worried about not asking the right questions and how to interpret all the info to make a decision.
My obgyn (who I will not be using again) is very much of the "if there's anything wrong, I'd lean towards termination" mindset.
I would love to hear from you mums who are further along in the process and can provide any more insight!

@Fod80

That is really interesting that your NIPT showed positive for monosomy 18 / partial monosomy 18. Do you know which NIPT you had done?

I am so sorry that you're going through this experience. It certainly is not one I would wish upon anyone. However, my advice based on my own experience and what I know of yours would be:

1. Until you have the results from the amnio, try to remain as positive as you can. It is entirely possible, given that the NIPT you had done can't provide reliability for this particular result, that it was a false positive. Until you have additional answers, try your best to continue to care for yourself (and your baby!) as usual - continue to find things to make you laugh, stay active and engaged in the pregnancy.

1. Take ultrasound information with a grain of salt. As you can see from my original post, everything they saw in my ultrasound could have been indications of absolutely nothing. I have learned that the majority of babies born with my son's deletion are not even diagnosed until after birth! So ultrasound information can be wrong, it can be right, but really what it is doing in your case is helping your providers make informed decisions about if / how to move forward with additional testing.

1. I'm not sure how your amnio results will be approached, but for me, the first thing they did was a karyotype. This looks at the chromosome pairings at a high level. For us, this was the first step in our diagnosis: on chromosome 18, it was clear from the karyotype that one of the chromosomes was shorter than the other, meaning there was a deletion (not to be confused with a microdeletion, which can be less impactful to the baby's outcome and wouldn't have necessarily shown up in this test). The second step after this deletion was discovered was to send the remainder of the sample from the amnio for a microarray, which looks at the chromosomes in more detail. Since they now knew to focus on chromosome 18, they were looking for information about exactly where the break occurred to determine how much genetic material is missing (which can help you determine the child's overall health outcome). The microarray can also show microdeletions (deletions smaller than can be seen in a karyotype), so it's likely that if your karyotype comes back normal, they will also do the microarray just in case. I am telling you all this as a way of saying - stay informed about what tests are being done with your amnio and when. Some providers send off the samples one at a time because testing is expensive and time consuming for the lab, while others send them out all at once for both the karyotype and microarray. So ask your provider after the amnio which tests are done and in what order.

1. Surround yourself with providers who are willing and able to support you in this process. If you already don't like the tune your OBGYN is singing ("If there's anything wrong I'd lean toward termination"), find someone who will sing a different tune. I can almost guarantee you this: if there is something found to be wrong, you will absolutely be asked by some provider along the way if you want to terminate. However, I can't predict the extent to which this conversation will happen for you. I was thankful not to have to find new providers because I already had ones who immediately respected our decision to continue with the pregnancy. For us, termination was not and never will be an option, and it would have been very draining to feel pressured into changing our minds. I have certainly heard stories of women who feel pressured into terminating a pregnancy they don't want to terminate. If you ever want to talk to me about why we would never end a pregnancy, I'd be happy to talk to you about that further. However, the advice side of this is to make sure you have people who will respect your decision and not force your hand one way or another.

1. On that note, I don't want to misinterpret what you mean by 'making a decision'. As I mentioned, we were not making a decision when we chose to continue with my pregnancy because termination was out of the question. So, all I can advise you when it comes to surrounding yourself with information is that you cannot really educate yourself until you have a diagnosis. Trust me - I googled more than I've ever googled in my life in the days / weeks leading up to a firm diagnosis. It is pointless. IF you receive a diagnosis, that's when you can start educating yourself and understanding what something means for your baby's future. It is likely that you will, at that point in time, be given the necessary resources to understand your baby's prognosis. To give you an idea of how this went for us:

Step 1: 20 week anomaly scan found some concerning things. An amniocentesis, fetal MRI, and fetal echocardiogram were ordered.
Step 2: Amniocentesis at 23 weeks.
Step 3: Karyotype indicates a terminal deletion of chromosome 18. Final amnio sample is sent for microarray.
Step 4: Fetal MRI and fetal echo. This was done by providers WITH THE KNOWLEDGE OF THE DELETION - this is important!
Step 5: Consultation with geneticist, who used the information from the karyotype about the deletion and the information from the fetal MRI to give us an idea of the extent of our child's condition. This conversation resulted in us being given an expert's insight into the condition along with various resources we could use to learn more on our own.
Step 6: Microarray results come back. Another consultation with geneticist to discuss the full extent of our child's condition, along with additional resources, next steps leading up to birth, etc.

If to you 'making a decision' means whether or not you would continue with the pregnancy, only you know your personal threshold for what it requires to make that decision. Some people would terminate after the results of a NIPT. Some after the results of a karyotype. Some after the results of a microarray. Some never. The only insight I can provide you is that from the 20-week anomaly scan to the initial diagnosis was a total of 3 weeks - until then, there was no new information to be had.

Finally, throughout this entire process, remember advice #1, which I think is the most important. Trust me when I say I hit the lowest of any low I could have ever expected to feel when we found out what our son's deletion would mean for his future. But continuing with a pregnancy and feeling despondent will do no one, most importantly your baby, any favors. I know that there may be a grieving and coping process for you in the future if you receive a diagnosis - although I truly pray that this isn't the case. If you ever feel hopeless, make sure you seek help. And continue to find joy in life. You, and your baby, deserve it.

@agiochook Thank you SO MUCH for this. It is massively helpful in giving us a clearer view of what to expect moving forward.
We have already decided to change OBGYN for exactly the reasons you mentioned. We had an appointment to check another (unrelated) issue with my placenta on Friday, just a few hours after we got the NIPT results, and were immediately met with an unsolicited barrage of opinions about termination and likelihood of the baby not being “compatible with life” that I found quite upsetting... particularly at this stage! He also didn’t seem interested in checking my placenta (id had a subchlorionic bleed), which I thought was odd, didn’t look at the baby itself when he did do a 2-minute ultrasound, and asked me nothing else whatsoever about the pregnancy!
We have a meeting with the genetic counselor and a maternal and fetal medicine specialist today so I will be sure to ask these questions about the amnio, as well as the markers they’ll be looking for on the scan.
To answer your question about the NIPT - it was one offered by Myriad Women’s Health. It is the Prequel test I believe (but I got that via google). Among my many questions for today are ones around exactly how the test works!
And thank you too for your first and last points... It is a devastating, horrible time and you’re right that I do need to focus more on trying to enjoy the pregnancy as much as possible instead of disconnecting from it!

@Fod80

Always happy to lend an ear and advice for parents going through this type of situation. It's not one I ever expected to be in, and I've found navigating the circumstances to be scary, sad, and confusing, but also at times uplifting (depending on if you just so happen to find the right providers, that is!). It sounds like your OBGYN has already given up on your baby, which I hate to even think about any doctor and find to be quite devastating if it is the case. I still find it pretty mind blowing that there are providers out there who bring life into the world (I honestly can't even imagine the beauty and gravity of that responsibility!) and yet are also so quick to dismiss it. Finding a new OBGYN definitely sounds like the smart choice for you - especially because at the very least he should still be treating YOU as a patient!

I'm so glad to hear you're already scheduled with a geneticist and maternal fetal specialist! I think it'll definitely feel good to keep the ball rolling and continue to learn more, even if some of the topics are difficult to hear. The waiting is definitely the worst part.

If you feel comfortable, please keep us posted on how things go . Wishing you the best.

(And btw - I had the Myriad Foresight Carrier Screen test, which looks for genetic conditions that could be passed on to a baby, but the NIPT I had was Natera's Panorama)

Hello everyone, sorry for the delayed reply and so sorry you are having to go through this.

We have actually now welcomes our little boy and he is doing much better than we hoped for physically. He’s had a few minor issues and a manageable heart defect we knew about but nothing else major and we love him to bits. Of course there could be a lot on the road ahead - I think a key thing I will have to get my head around is the balance between being positive and hopeful and being realistic, and the need to not think too far ahead.

I would echo everything @agiochook has to say about your little one. Doctors should be completely impartial in my opinion and simply specify what they know to be the facts. The only thing I would add is that the same goes for other people- it’s so tempting to ask people what they would do in this situation and I did that with a few family and friends and now regret it. The decision should only be your and your partner’s (if you have one) - get the facts and then lock yourself away!!!

It sounds like the both of you are doing excellently. From the post birth perspective in my experience pregnancy was the hardest part - the only thing you know about your baby is their diagnosis at this point. Once they are born you will be so occupied with the day to day that it will feel much more normal to you.

It would be great for you both to keep us posted if you can!

@stanley10 Congratulations on the arrival of your son! It's wonderful to hear that he is already beating your expectations health-wise. As you said, there may be much that lies ahead (we, too, know that's what's in store for us once our son is born) but it is wonderful to hear that you are settled in as a family and loving it

Hearing that your day-to-day has taken on a sense of normalcy gives me so much hope for our situation as well. Thank you for that! I know there will be challenges, as all parents face, but it sounds like you're taking everything in stride.

I also couldn't agree more re: "I think a key thing I will have to get my head around is the balance between being positive and hopeful and being realistic, and the need to not think too far ahead." - I am definitely in the same boat. I'm not sure if you've found this to be the case, but I think I personally lean toward the worst-case-scenario as the realistic scenario, when that's not necessarily the case. I'm working on it, and I'm sure it gets easier with time.

Congratulations, again, and thank you so much for checking in here and letting us know how you're all doing. I know your son will bring you so much joy, and hope you feel support from every angle as he continues to grow. He is blessed to have you in his corner, giving him the love and care he needs!

Please continue to keep us updated, if you wish. And if you ever need to vent - I'm here for that, too.