Soft Markers

in addition to all the other examples of false positives, i wanted to share my story. i got all false negatives and my son was born with Down syndrome. he is the love of our lives, family and friends. he is doing really well and in a typical preschool classroom. you may want to talk with a family or two that have children with these diagnosis to get a feel for how you would feel about having a child with special needs. personally, before and during my pregnancy i didn't know if i would be able to handle it if something went "wrong" but at the same time i was not going to abort. well something did go "different" and i wouldn't change a thing for the world. and i think you will find most other families with a child with Ds feel the same and feel so blessed to have that child. (and i say "blessed" as a figure of speech because i am not religious so that is not where these feelings are coming from. i hope that makes sense.)
good luck, do everything you can to relax about the situation. it really will be ok no matter the outcome. PLEASE contact me if you would like to talk. now or after you get more concrete results. hugs!

I have heard multiple stories about women being told their baby may have Downs Syndrome because of these tests and then the child ends up being born perfectly normal and healthy. One friend of mine actually went through all types of counseling and classes to prepare her for life taking care of a DS baby, and her son turned out totally normal. Take the ultrasound news with a grain of salt, go to the counseling, and if possible get an amnio to confirm/deny any anomaly. I know it's hard not to panic and worry, but just know that you are not alone, and that those babies are a precious gift that you will love regardless of the outcome of these tests. Yes, it will be challenging, but parenting is challenging anyhow!

stay calm. I had something similar with my second pregnancy. They found what they believed to be a small calcium deposit. As it turns out they were wrong. As wonderful as modern technology is, it can be very frustrating as well. A lot of false positives. I feel your stress, but try to let it go. Your babies need all the positive feelings you can send their way. "Your boys are perfect." That needs to be your mantra. Hugs to you.

An ultrasound is not a definitive tool for diagnosing DS or other chromosome abnormalities. I know of one person (years ago) who terminated based on an u/s and the baby was normal. The only way to tell is through an amnio. That in itself is controversial. When I was pg with my first (also IVF), she had the calcium on her heart. They pushed me to do amnio but I refused. I have a friend who miscarried a normal baby after an amnio. Rare, but after all I'd gone through (7 cycles at that point), I didn't need the added risk. When I was pg, my friend, pg with twins, was told one of her babies had cysts in the brain. Both of her babies were born healthy. I also started researching and found that yes, they want to cover themselves and so they are offering amnio to just about everyone. Most of the time these markers do not mean the baby has DS or anything else. If you did PGD for T21 and T18, the babies should be fine for that. One friend was pg with twins (did our IVF together) and it was VERY obvious at about 14 weeks that something was wrong with one baby. Not just soft markers, but obvious abnormalities were noted. An amnio confirmed that one twin had T18. But again, things were very noticable on the u/s, not just soft markers. Ultrasounds are good tools, but they can scare the heck out of us. I had twins 18 months ago, and they only noticed at 34 weeks that my son had a two vessel umbilical cord...which is a sign of T18. I thought it was odd that it wasn't noticed earlier. He and his sister were born the next day because her umbilical blood flow was reversing, and both are healthy toddlers. A lot of worry in an already stressful situation. For your peace of mind, you may want to consider an amnio, but I'd check with your RE to make sure that the PGD normal embryos were transferred and there would be no risk of T21 or T18. Good luck.

I know exactly what you are going through. My last preganancy I was pregnant with twins via IVF. I was SO excited to be carrying twins. My husband bought himself Twins jersey. We told the whole family and all of our friends. Then we go to the first trimester screening at week 12. The Dr does the ultrasound and his face just goes blank. He tells us that we have one very sick baby and one healthy baby. The sick baby will never survivie outside the womb...deflating all joy with that pregnancy. Our Angel baby had so much wrong with him it is a wonder he continued to grow, but he did. He would suffocate the second he was born because he was missing the artery that connected his lungs and heart and he only had 3 chambers of his heart. We ulitimatley had to do a selective reduction on him at 27 weeks because he was causing harm to the healthy baby. Angel baby caused me to go in premature labor at 35 weeks. I delivered a healthy baby boy. I am now 24 weeks pregnant with my third and have had 2 possitive screens for DS, luckily the amnio came back clean. But I have found it very hard to enjoy this pregnancy until now. It is very hard but you just have to get through it. A friend of my twin sons had similar calcifications and ended up being just fine. Good luck with the counselor. If need be do the amnio, it really helps calm the mind. Try to enjoy at much as possible, My prayers are with you and that everything is just fine.

As far as I know, PGD tests the actual chromosomes so if #18 and #21 came back normal with PGD then the boys should have normal chromosomes for those. I am sure it's scary but I really think it's fine - call your RE and have him go over the PGD with you. Good luck!

I was pregnant w/twins also (girls), so did a ridiculous amount of ultrasounds, extra cautionary blah, blah, blah... They determined that one twin had downs, we met w/a genetic counselor, extra, extra. She was born COMPLETELY healthy in every way & has always been developmentally advanced (now 2 1/2 yrs old). Go w/your gut. My husband & I feel like they have to take us through hell these days to cover their own butts. Sometimes they tell us too much! All the best!

If you had the preimplantation screening done you should be okay as far as I know. When I was pregnant with my twin boys they found soft markers: echogenic bowel and dilated kidneys. I was so freaked out I got an amnio on both. I wasn't able to get the FISH test (because of blood in my uterus from a triplet loss at 9 weeks) so had to wait two long weeks to find out the results. They were fine, although ended up being born prematurely at 29 weeks because Baby A's sac ruptured early. (FIWW, they didn't think that was a result of the amnio, but rather the bleeding weakening the sac.) Anyway, if the preimplantation diagnosis is correct you shouldn't have anything to worry about. I know, it is so hard not to....

Hello, I don't know about the markers. I just know that our grandaughter was born with Downs Syndrome and she is the joy of her mother's, Auntie's, Uncles', Cousins' and my life. She is cute, smart and very sweet. If it turns out that you are faced with this, it is going to be okay. Trisomy 18 is a hard one. Although, I must say that I have heard of many people having false positives with these tests.
I will pray for you.
Good luck with your precious babies.
K. K.

With an ultrasound.... it is not always CONCRETELY what is.
It is a scan of the baby.... and not necessarily "diagnostic."
The Genetic Counselor will explain all the tests to you and the outcomes and probabilities....

Will you be having an Amniocentesis??? This is the most accurately conclusive test.

I had the Amnio, my choice, due to maternal age when I was pregnant with both my children.
With my 1st pregnancy, they found an anomaly during the ultrasound. But in the end, it turned out fine and my daughter was born healthy and normal. And per the results of the Amnio I had.

Ultimately, you need to discuss with Hubby, your feelings and what you would do if your babies are DS or other possibilities. And also discuss that with the Genetic Counselor.
Yes, it is stressful and scary... I've been there.

They will probably have you do further Ultrasounds... and/or an Amniocentesis...

all the best,
Susan

Hello,
Just wanted to drop you a note ... when I was pregnant with our daughter, the doctor found a cyst on her brain, too. They told me not to worry, that the only reason they were telling me was they wanted me to be aware of it, but that they were NOT concerned in the least. Well, hello!! I totally freaked out, did a bunch of online research, scared myself silly. All for naught. By my last ultrasound, it had gone away. So I can tell you not to worry, but believe me, I understand! Just wanted you to hear from someone for whom it all turned out fine :)