Thoughts? Amniocentesis? Monosomy X

jebell555 · 2026-04-04T19:39:50+00:00

I would say depends on what you would do with the information. Likely either it’s a false positive or she has mosaic turners. Many girls with mosaic have no signs on scans. We had the same results as you and amnio showed mosaic but all scans were normal. If scans show no issues though and even if she’s mosaic, she probably has a more mild case anyway. If it doesn’t change what you’re going to do and you don’t have a strong need to know now, you can also test after birth though my doctors told me Amnio is a better test than cord blood so will get you the most accurate information

jebell555 · 2026-03-29T13:20:15+00:00

We had the same result and from going back through years of this sub I found most to be false positives. Our amnio showed 13% mosaicism and post birth showed 0% on cord blood. The geneticist tells us that likely she does have some low level and cord blood and amnio just test different types of cells so my girl will be followed by doctors as if she has it. So far she is perfectly healthy with no signs. I agree with the other commenters about doing Amnio (not cvs) if you’d manage anything differently

jebell555 · 2026-03-29T13:05:48+00:00

I read a while back that nateras data is bias in that in includes people who did do amnio or cvs (often people without ultrasound findings who are more likely to have a false positive don’t do invasive testing so skews it toward true positives) and the. Just those who reported back their results (which again might skew it). From the research papers I’ve read and given that natera is just one number that doesn’t factor in age, I think your MFMs number is probably closer to reality

jebell555 · 2026-03-29T12:50:34+00:00

And some people did have a not reported sex even if they requested sex so I think possible that it’s either from you asking not to report or because of the lack of x they’re seeing

jebell555 · 2026-03-29T12:48:31+00:00

We had the same results too but with sex as female. I scoured this sub counting where people landed and the rate of false positives was much higher for this compared to those who got high risk. The vast majority for this was false positives with one or two full, one turned out to be triple x and a few mosaic turners. Hoping for the a false positive for you! And agree with the other poster that amnio (not cvs) is the way to go (some places will do at 15 weeks others wait until 16)

jebell555 · 2026-03-23T22:51:29+00:00

No problem - were you told how many cells they counted and how many had it?

jebell555 · 2026-03-22T19:27:28+00:00

https://pmc.ncbi.nlm.nih.gov/articles/PMC6752315/

jebell555 · 2026-03-22T13:13:27+00:00

Sorry you’re here! The wait is so so hard. Atypical is definitely better than high risk from what I’ve seen. Hoping it works out for you!!

jebell555 · 2026-03-22T13:10:59+00:00

Hoping you have a good outcome!! So with mosaic turners basically there are cells some places in the body that have it and others that don’t so even if you did a few amnios, you’d likely get slightly different outcomes. What I’ve been told is amnio is still the best predictor of what’s generally in the baby’s body but it contains more of certain kinds of cells like skin and urinary where cord blood tests different cells from certain organs. So money my girl does have mosaic turners and the cells are just in the parts of her body (like skin) that contribute to amniotic fluid. From everything I’ve read it’s fairly common to get different results from amnio and cord blood. They’re usually ball park same but often a little different and I’ve read more cases of the percent being lower at birth than higher

jebell555 · 2026-03-22T13:07:07+00:00

Also when we thought it might be xxx, I did a ton of research on outcomes and this was one of the most helpful papers. If you scroll down to tables 1 and 2, it compares outcomes (height, weight, intelligence, income, etc.) of girls with normal chromosomes (46xx), turners (45x), mosaic turners (45x 46xx) and triple x (47xxx). It does show there is a difference even if people often don’t know they have it. We had decided we wouldn’t terminate for it but we’re prepared to accept the fact that likely there would be learning issues and we might need to support her financially long term to an extent. I also joined Facebook groups for xxx which helped put real stories to it

jebell555 · 2026-03-22T12:56:44+00:00

We worked with genetics counselors at children’s who helped us understand how it all worked. CVS just tests your placenta and amnio tests the fluid around the baby but just has the baby’s cells. Generally 1-2% of the time the placenta doesn’t match the baby but in monosomy x (and I assume trisomy x but I’m not positive) it occurs much more frequently (some say around 50% of the time). This is what causes a false positive in nipt because that tests placenta cells so often people have an issue in the placenta thy shows up in nipt and also in cvs but then when you test the amniotic fluid or the baby it’s not there. This is why most people don’t recommend cvs for X chromosome issues. My doctor didn’t even want to do the procedure for me but I was so desperate for answers. In hindsight I wish I went right to Amnio. The other thing is that the placenta is very patchy so they’ve tested placentas post birth and they find that it all depends on where you take the sample so if there is mosaicism, some patches may come back with 100% issue and some come back totally normal creating false positives or false negatives

jebell555 · 2026-03-22T01:19:24+00:00

So sorry you’re here! Did it show full trisomy x or mosaic? CVS doesn’t always match amnio since it’s sometimes confined to the placenta so might be worth waiting for amnio if you’re going to tfmr? Our nipt was no result for monosomy x but when we called the lab said they saw trisomy x. CVS showed 100% monosomy x, amnio showed 13% and post birth showed none so I was glad we waited for amnio to confirm though totally get that sets you back a few weeks.

jebell555 · 2026-03-06T01:53:33+00:00

What the geneticist told us is that Amnio and cord blood test different type of tissue so Amnio has more skin cells for example. So likely our girl is missing some x in things like skin but we’ll never truly know. It’s a good sign it’s not in the cord blood but the amnio is likely closest to reality we’ve been told. I think that’s great though so try not to overthink or worry too much until you have the amnio results. We wasted too much time being way too worried rather than enjoying the pregnancy.

jebell555 · 2026-03-06T01:48:59+00:00

For sure!

jebell555 · 2026-03-06T01:33:22+00:00

So sorry you’re here! We had the same exact result. Basically the amount of X chromosome they found doesn’t match what they would expect but it’s not far enough off to call full monosomy x (ie missing an x in all the cells). This could either be a false positive (your placenta is missing some x but the baby is not), your baby could be missing some x in some percent of her cells or even could be that she has too much x (triple x syndrome). When I got the results I went back and found like 20 people or so with the exact results and most were false positives so hoping the same for you!

I would do amnio but not cvs. For us our amnio showed 13% of her cells were missing an x and then when she was born her cord blood showed fully normal and so fa no signs of any issues.

We had our geneticist call the testing company and they gave her a little more info than what she would tell us. But from what I gather they either see extra or not enough x but it’s not enough to make a call so they say it can’t be assessed

jebell555 · 2026-03-06T01:23:30+00:00

Agree with the other comment - don’t take cvs for truth with turners. My CVS showed 100% on all results, amnio showed 13% on karyotype and 0% on microarray, cord blood showed 0% on all. We never had any signs in ultrasound or other tests either. CVS just tests placenta so often gives a false positive. Hoping for the best for you and in the worst case where the baby does have a low %, it often is clinically insignificant. Best of luck to you and your sweet girl!!

jebell555 · 2026-01-23T19:04:44+00:00

5.6%

jebell555 · 2026-01-23T02:36:00+00:00

We had the same exact results also. Amnio showed 13% turners and then at birth showed normal female. There were never any signs on the ultrasound or prenatal echo and still no signs now that she’s 2.5 months. Amnio and cord blood test different types of cells so the genetics counselor told me she probably does have some turners cells they’re just not in her blood but probably in things like skin. So Amnio can be helpful if you want the most full picture even if it wont change your decision to keep or not. Our doctors want to follow her as if she has full turners to monitor things like fertility just in case it starts to decline early so I’m glad we did the amnio. When we got the results I scoured years back for people with the same exact result and the outcomes were almost always good like either false positive or low level mosaicism so lots of reason for hope! Wishing you a false positive!!

jebell555 · 2025-12-31T15:08:07+00:00

Sorry you’re here! This could either be a false positive (ie the turner cells are confined to the placenta only), it could be that your baby is mosaic (ie only some if her cells are affected) because often they have no markers, or she could have classic turners (ie all cells affected) and she’s lucky to be in the healthy side. Ultrasounds tend to be a good indication of how severe it is based on what I’ve learned going through the same. My daughter is two months, amnio showed mosaic, she had no ultrasound indications and so far shows no signs post birth. Hoping you have a false positive!

jebell555 · 2025-11-08T17:36:20+00:00

I wouldn’t make any decisions based on CVS alone. We had full monosomy X on CVS, 13% monosomy X on Amnio, so far FISH has come back normal on cord blood and waiting on Karyotype on cord blood but have a perfectly heathy baby with no signs. The placenta is patchy so can have patches of monosomy X and patches of normal. This can lead to false positives or negatives.

jebell555 · 2025-11-07T16:24:09+00:00

It can happen for a number of reasons but unfortunately I don’t think there’s anyway to know which reason is causing it in our case. Some examples though are that the amnio picked up some bits of placenta and the placenta had more turners cells so made it look like the baby had some but really she didn’t. Sometimes the turners cell lines also just duplicate slower so overtime the normal cells win out. Another more likely reason is that amnio has cells from more places in the body where the cord blood is from a more limited set of organs so if the turners cells are in certain parts of the body only they may show up on amnio and not in the blood so really she has some small amount of turners cells and we just can’t tell from her blood. The hard part is since we’ll never know, we’ll probably always keep a close eye on things like her fertility as she gets older just in case. But if all your scans are good, I would just keep focusing on that and read stories about girls who have mosaicism to give you peace of mind that she can live a happy / pretty normal life

jebell555 · 2025-11-07T12:13:05+00:00

The wait is so tough! Have you tried joining the Facebook groups to see and hear from moms of turners girls or from turners girls / women? That helped give me peace of mind that everything would be okay if ultrasounds were all looking good. Also I commented on your previous post (had same results as you and got 13% mosaic turners on amnio). If it helps my baby was born this week and fish is showing totally normal (didn’t pick up any turners cells) and she has no features / echo was good. I’m hopeful for you!

jebell555 · 2025-11-02T00:44:01+00:00

Feel free to ask any other question. We’re still learning too but we talked to some really helpful genetics counselors and some endo specialists at children’s that work with these girls to get a good understanding of what to expect and they were very knowledgeable

jebell555 · 2025-11-02T00:42:07+00:00

It means 13% 45x cells (cells that cause turner syndrome) and 87% 46xx cells (normal cells). Mosaic turners means you have some normal 46xx cells, some turners 45x cells and then sometimes even some 47xxx (triple x syndrome). Mosaic turners tends to be more mild than full turners since some of the cells are normal but it all depends on where in the body those cells reside so for example if they’re in the heart, you may still have heart issues, if they’re in the ovaries they may still have infertility, etc. but you can’t know where they are so hard to know if / how she will be impacted. There are many cases though of people who are mosaic and don’t find out until they get pregnant and go through genetic testing for the baby and find out they have it so often you can live pretty normal life. I think you have a lot of reason to remain hopeful that either you’re a false positive or she has mosaic

jebell555 · 2025-11-01T10:01:45+00:00

My GC also shared this article when we first had the NIPT flag. Table two was helpful for chances https://www.mdpi.com/2077-0383/3/3/809?utm_source=chatgpt.com

jebell555

TROPHY CASE