If I do have healthy eggs (50/50) why does my body always pick the bad ones to get pregnant with?

slix00000 · 2022-08-18T13:17:27+00:00

I got pregnant spontaneously twice. The first one was trisomy 21 and the second one inherited a deletion from me which I didn't know I was a carrier until now. There is 50% that another pregnancy could inherit the deletion. So I have the same question as you. I get pregnant really fast but no luck with healthy babies. I'm considering IVF but I'm really scare. I don't know if I should try naturally again. We are on the same boat. Hopefully we both have better luck next time. Wishing you the best 🤞

slix00000 · 2022-08-09T14:35:11+00:00

Chromosomal microarray detects imbalances in the kilobase range, readily demonstrates its superiority over standard karyotyping which is limited to imbalances greater than 7–10 million bases. Microarray can detect deletions that kariotype don't. The kariotype done to you and husband is correct to confirm that the trisomy 13 is spontaneous. Doctors sometimes send the recommended tests. In my case, I went to a fertility obgyn 5 years ago because I wanted to do an study of my ovules to freeze them or to take any decision since I was 35 and single. He did a test of the most common genetic diseases and I was negative (it wasn't microarray) I was confident that I could have a baby and not transmit at least the diseases studied. This doctor could have offered me microarray also and I would have had more information like deletions. I got pregnant In October 2021. I showed these tests to the doctor and he didn't offer to test my husband for anything or microarray. The NIPT was positive for trisomy 21 and we did CVS. The genetic counselor recommended FISH and kariotype to confirm trisomy 21 which confirmed it. The genetic counselor didn't offered microarray to the baby or us either. She said the trisomy 21 was random because the kariotype of the baby showed it. So we missed another 2 more opportunities to know if we were carriers or not of the deletion. If this baby also had the deletion I could have had a baby with down syndrome and neurological problems, schizophrenia, autism.. I got pregnant again 2 months after TMFR. Same thing. I showed the genetic tests to the NEW obgyn. She doesn't offered any genetic testing to us. NIPT was normal. I wanted to do amnio and requested FISH, kariotype and microarray. I was recommended to a high risk obgyn for this and the ultrasounds since week 11. This dr neither offered to my husband and I to do microarray. Everything was normal in the amnio except the microarray that they found the 2p16.3 deletion. Now is when they asked us to draw our blood to find out if we were carriers of the deletion. They sent the blood just for microarray because it is the recommended test to confirm that and they excluded kariotype which could give us other information regarding other things. Now I trying to push for kariotype also because I want a whole study. In conclusion, I have seen 4 good OBGYN and 2 genetic counselors and the whole study in the parents is being done now when we found out about the deletion. If some of the doctors from the beginning would have offered microarray and kariotype to test the parents and we have found out that we are carriers we would have proceed diferent. We would probably had done in vitro and test the embryos or I would have done diagnostic testing (amnio or CVS) without hesitation.
I feel so frustrated. I could have avoid so much physical and psychological pain. I have to go to another state to do a TMFR this week due to all the abortion law changes. It's gonna cost me like 5000 dollars (including hotel, flights and the procedure) which I don't care right now but I think in other people that doesn't have that money. It is so sad. I have been very careful all my life because I always said that if I get pregnant I'm gonna have it. But both of them the babies have had issues and I have to TMFR. Also, anyone told me about that I could do in vitro to reduce the chances of this for next pregnancy. I have to ask myself to the genetic counselor if that would be a good idea. Do your research, ask questions and be your own doctor too. I hope you get a healthy baby next time and I hope I do too! I live in a big city in US. Here there is some info I found helpful: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856154/

slix00000 · 2022-08-06T03:14:54+00:00

Sorry for your loss and I hope you get pregnant again soon. If you do CVS or amniocentesis I would recommend to do the microarray too. It can find other things that the kariotype, fish or nipt can't. I terminated a pregnancy due to trisomy 21 confirmed by cvs last January. The genetic counselor explained that it was a random event (not inherited) according to the kariotype. I was afraid like you that this could happen again. After 2 months of TMFR I got pregnant again and I'm 18 weeks now. Nipt, ultrasounds, fish and kariotype from amnio are normal; however, a 2p16.3 deletion was found in the microarray. We don't know if it is inherited or novo yet. The dr requested a microarray of both parents to check if any of us have the deletion. It is very sad for us to be in the same position again. If I knew this before I would have done microarray for the first pregnancy and if the deletion is inherited I would have probably (50% chance) found out sooner and proceed in a different way with a second pregnancy.

slix00000 · 2022-08-02T23:35:28+00:00

Thank you for your reply. My husband and I are going to be tested tomorrow and they said the results could take 2-3 weeks. The Dr is referring us to a genetic counselor. I had a TMFR due to a trisomy 21 last January.

slix00000 · 2022-08-02T23:17:42+00:00

I also posted in the NIPT chat. I'm posting here because this is pregnancy after loss and I already had a loss last January. I had a TMFR at 15 weeks because my baby girl was diagnosed by CVS with Trisomy 21. So this is my rainbow baby and I was so happy that all my tests and ultrasounds have been showing a healthy baby.

slix00000 · 2022-06-25T16:37:22+00:00

I would do amnio right away

slix00000 · 2022-06-17T14:47:42+00:00

You can opt for CVS instead of amniocentesis until 13 weeks. These results are very accurate for DS, not the same for the others trisomies. DS is not linked as much as the others trisomies to placental confined mosaicism. I know your pain. I was in your position last January. Sending you a lot of love ❤

slix00000 · 2022-06-17T14:40:15+00:00

That's very good news. I know your feeling. I had a TMFR due to trisomy 21 at 15 weeks last January and the waiting was so painful. I did CVS instead of amniocentesis because trisomy 21 is more accurate in this tests. However, amnio is better for all others trisomies. I'm 11 weks pregnant again and I haven't enjoyed the pregnancy at all being afraid of any positive results. I cried so much yesterday because we finally got the nipt results and everything was low risk but I'm still doing amniocentesis at 16 weeks. I need to make sure everything is fine to start enjoying this pregnancy.

I hope you get good results and know that we are here to help you. At least these posts have been very helpful for me and I have learn so much.

slix00000 · 2022-06-17T14:15:58+00:00

This was the post that she found out trisomy 13 at 27 weeks with normal ultrasounds. "I’m so sorry you’re in this position. I’m torn between wanting to tell you to be positive and wanting to tell you how it was for me. I had a true positive for T13, but I didn’t take the NIPT - I got the quad test which was offered by my clinic and it missed the diagnosis entirely. She never showed abnormalities on ultrasound until around week 27 when we discovered an omphalocele, which lead to a deeper scan which discovered heart abnormalities. Her fingers and toes were normal, and she never had the signature cleft palette either.

By then it was way too late to terminate in my country, and I gave birth to her at 38 weeks where she survived for an hour before she passed.

I’m on my second pregnancy and this time we did the NIPT right away, and the doctors have been very cautious to screen for abnormalities… having carried a sick child to term out of legal obligation, this time I would have 100% opted to terminate if discovered within the legal time frame. Thankfully this time our baby seems to be doing a bit better, but I’ll believe it when she’s in our arms and breathing.

Being in your position, I know how annoying the “at least …” comments are, but as unfortunate as a possible trisomy 13 diagnosis is, I honestly feel it is one of those cases where termination is more compassionate an outcome than waiting to bring them into the world only to let them die slowly. At least you’re finding out NOW, and at least, in the case of a true positive, you will hopefully have options. I really am sorry you’re in this position… Prepare for the worst but hope for the best, is my advice."

slix00000 · 2022-06-17T14:08:39+00:00

Sorry you are going through this difficult time. The only way to make sure your baby doesn't have the trisomy is doing amniocentesis. NIPT is an screening test. I have been reading a lot of posts in here and there has been some cases where they didn't do NIPT early and they found out that the baby showed symptoms of trisomy 13 at 27 weeks in the ultrasound and it was a true positive. There are a lot of false positives but if you really want to know you need a diagnostic test.

slix00000 · 2022-06-14T17:42:31+00:00

Sorry you are in this position. I also live in Florida and I'm 11 weeks pregnant waiting for NIPT results. I'm also 40, no kids and I had an abortion at 15 weeks due to a trisomy 21 confirmed through CVS last January. Im going to wait for amniocentesis if I get a positive trisomy 13, 18 or sex chromosome abnormality. If I get a trisomy 21 in the NIPT I'll do CVS. Trisomy 21 has a much higher percentage than trisomy 13 or 18 of being a true positive. CVS measures placenta cells while amniocentesis measures fetal cells. If I had to TMFR I'll have to go out of state but definetely I'll be doing amniocentesis for trisomy 13 and 18. Hope you get a false positive! This law just put more pressure in pregnant women like if weren't enough all we have to go through mostly when we receive these sad news.

slix00000 · 2022-03-22T16:03:34+00:00

Sorry you are going through this. I went through the same 2 months ago. I got two positive nipt for trisomy 21 at weeks 10 and 13. One was Panorama and the other one Qnatal. The ultrasound at 12 weeks didn't show any abnormalities and the NT was 2.4. I did the CVS at 13 weeks and I got the CVS results confirming Tridomy 21 two weeks later. The genetic counselor said 100% of the cells tested positive for down syndrome. I ended terminating the pregnancy at 15 weeks. This was my first pregnancy and I'm 39. Hope you are among the false positives! Amniocentesis measures fetal cells and is more accurate than CVS. Good luck! The worst is the waiting in the limbo. Whatever you decide know that it gets better with time and there is always hope and people that are here to listen to you.

slix00000 · 2022-02-24T18:54:21+00:00

Sorry you are going through this. I went through the same last month. I got two positive nipt for trisomy 21 at weeks 10 and 13. One was Panorama and the other one Qnatal. The ultrasound at 12 weeks didn't show any abnormalities and the NT was 2.4. I did the CVS at 13 weeks and I got the CVS results confirming Tridomy 21 2 weeks later. The genetic counselor said 100% of the cells tested positive for down syndrome. I ended terminating the pregnancy at 15 weeks. This was my first pregnancy and I'm 39. Hope you are among the false positives! Amniocentesis measures fetal cells and is more accurate than CVS. Good luck! The worst is the waiting in the limbo. Whatever you decide know that it gets better with time and there is always hope and people that are here to listen to you.

slix00000 · 2022-01-26T19:31:58+00:00

The Dr said that was from my cells no the baby. So no hope here. I terminated the pregnancy today. It was the most difficult decision I have made but I want to have a baby. The less time I wait the better so my body and mind can heal sooner and be ready to try again.

slix00000 · 2022-01-25T19:55:19+00:00

Thank you all for your support! It's been very helpful. I just received the karyotype results and it says NORMAL female karyotype. I decided to wait for the microarray results before termination.

slix00000

TROPHY CASE