GENETIC TESTING AFTER STILLBORN AND TRYING AGAIN AFTER A GENETIC ISSUE

[sloveshockey12]

Hi, we recently lost our baby son Noah at 31 weeks of pregnancy due to a very rare genetic disorder- recessive gene-called Fetal Akinesia. Both my husband and I apparently have the gene. We will go for the autopsy results in two weeks and more testing will be done. We were told that the chances of having this reoccur is 25%. I am wondering if anyone else has had another child successfully after having a stillborn with a genetic disorder. We have one daughter already who is 2 and healthy. I am going to be 38 this year and we would like to try one more time. Factors to consider are the possible genetic implications again and age. Any feedback would be greatly appreciated. Thanks. Sheri
I am not sure how to access this link after so if you can please respond to my email address of [email protected], I'd appreciate it.

bump incase someone can help,

how sad for you and little noah

there are a few ladies here who may be able to help,

thinking of you x

I know nothing about Fetal Akinesia - but if both you and your husband are carriers of a recessive then the odds are as follows for any baby

25% no FA gene, no problem

50% single FA gene - carrier like you and your DH. Only a possible problem for the future if the baby (when grown) marries another carrier

25% two FA genes - will have Fetal Akinesia

HTH - sorry I can't be more help

I'm afraid I don't know anything about Fetal Akinesia and I am so sorry to hear about Noah.

My daughter has cystic fibrosis which is also genetic and like you have described there is a 25% chance any other baby we have will have CF. After genetic screening the doctors now know what genes are responsible for her CF and therefore if we decide to have another baby there is the option of IVF with PGD (preimplantation genetic diagnosis)- so only embryos without the 2 genes are used- or else having a CVS test done at between 11 and 13 weeks of pregnancy (like an amnio, but samples the placenta and can be done earlier than an amnio) which they can use to look for the faulty genes. After such a test of course should the result be that the baby has the disease you are in the hard situation of deciding whether to terminate.

Not sure if any of this helps- but hopefully you will be given genetic counselling (we were) which goes through all the options in detail. Wishing you all the luck for the future xx

Hi Sloves - I'll reply here and copy to your e-mail as well.

I'm so sorry that you are having to deal with this, and sorry for the loss of Noah. Your situation sounds very similar to mine. My son, Henry, was still born at 21 weeks with a genetic condition called lethal multiple pterygium. I believe it is strongly linked to akinesia as this was mentioned at the time. Basically his joints were fused together and he had severe hydrops. The post mortem showed that we also had a 25% chance of recurrence as DH and I both have the recessive gene. We were offered genetic counselling but to be honest the consultant we saw said that they would not be able to tell us much more than that so we decided against it. Not sure if this was the best course of action or not, but it was such a hard time.

My DS1 was 18 months at the time that Henry died so we were so grateful that we had had no issues with him. In some ways I think finding out that there are genetic issues would probably be harder if it was your first. At least we both know it is possible to have healthy children.

We tried again because we knew we wanted another child but it was not a straightforward decision. I had a haemorrage after the birth of Henry and needed transfusions and as a result my DH was really scared that something similar would happen again. Anyway, to cut a long story short, I became pregnant in Oct 2006 and because of my history I was sent for an early scan. The only way they could determine if our baby had the same condition was to see if the hydrops was starting and to see if the nuchal measurement was enlarged. So we had scans every 3 weeks until 20 weeks when we were officially given the all clear. To be honest though, as soon as I saw my son moving about at some of the early scans I just knew it would be OK. He was born in July last year and is perfect .

We wont be trying again, in part because we are rushed off our feet with 2 boys but also because I've tempted fate enough and feel very lucky with my family. I still consider myself to have 3 boys though.

I'm sorry you are in the same position that we found ourselves in. It hits you like a ton of bricks when you realise that you have so much to consider when trying for a baby, but we are so glad we gave it a try. Obviously it worked out well for us and I truly hope that if you decide to go ahead that it works out for you too. Please do keep in touch and let me know how you are doing.

Best wishes
x

hi, thanks for your feedback. we found out the results of the autopsy. the cause of Noah's passing was Nemaline myopathy, which in turn caused the fetal akinesia. we are familiar with the statistics. i was wondering if anyone had had a child after something similar and if it reoccurred or not. we have one child who is two and fine. there are apparently 5 genes which causes this disorder, but there is only research about one. so even if invitro occurred taking out that particular gene, the other four could still be there. I'd appreciate it if anyone who has had a pregnancy after such a genetic problem would mind sharing. thanks. if you don't feel comfortable sharing on here, my email is [email protected]. Thanks.

Hi I am 29 years old. My first pregnancy ended in a miscarriage at 8 weeks in nov of 2016. Started trying again in jan got pregnant in the following dec of 2017. Ended up getting 27.5 weeks and finds out our little girl had a genetic condition named bardel beidl syndrome! Me and my fiance found out we are carriers of that gene. We ended up having a stillbirth at 27.5 weeks. Have any of you ladies had a similar situation ended up being a genectic condition and went on to have a healthy pregnancy??