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At what point should all abnormalities have been picked up?

(10 Posts)
AmiL123 Sat 18-Jul-15 09:47:23

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OMGmetoo Sat 18-Jul-15 10:10:04

I don't want to scare you, but you can't know about all abnormalities until birth, or even later. People can end up having holes in their hearts for years without even knowing about it.

If you were already pregnant then the fertility medicines cannot cause a trisomy like Downs, or any other genetically carried disorder.

Have you thought about t walking to your GP about anxiety and seeing if they can help? It's not good walking around for an entire pregnancy feeling like a ticking timebomb. flowers

AmiL123 Sat 18-Jul-15 10:35:50

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KittyandTeal Sat 18-Jul-15 19:57:58

Most are picked up fairly early.

I had a bad experience, no ones fault, my bloods were off but they thought it was a pointer for possible iugr.

At my 21 week scan they picked up a slight issue with dds cerebellum. Sent to kings the next day. They looked at my bloods, ran them under their risk assessment program and gave me a 1:46 of T13 or T18. They then picked up 4-5 soft markers that a sonographer at a 'normal' hospital would have found (there was a consultant, a PhD student, geneticist and fetal medicine doc scanning me)

Amnio confirmed T18 4 days later. Our dd2 was born at 22+2.

As far as I'm aware my story is fairly unusual, major abnormalities are often picked up much earlier. However, don't forget that's what the purpose of the 20 week anomaly scan is. I think people far too often think if it as a gender scan, people assume you get to 12 weeks and it's all good (me included until this happened)

I don't want to be the voice of doom, remember these abnormalities are still very uncommon.

KittyandTeal Sat 18-Jul-15 20:01:04

Sorry, just realised you're talking about meds. They don't cause trisomies, that's just plain shitty luck, could be anyone and nothing you can do to prevent it.

Is your medication linked to and birth defects? If so they should be listed somewhere.

If you are this anxious could you request a scan later on with a fetal specialist? That may put your mind at rest a little.

TheDisillusionedAnarchist Sat 18-Jul-15 21:50:10

Statistically I think most cases of trisomies 18 and 13 are picked up at the 20 week scan and a lot of other serious anomalies aren't diagnosed until then. DD's multiple anomalies were first picked up then and we got the trisomy 18 diagnosis at 23 weeks (now nearly 29 weeks) of course many problems aren't picked up until birth or later.

I so understand your anxiety. I had really bad anxiety in this pregnancy and was convinced something was wrong, the baby would die. I got a referral for cbt which actually really helped. Might be worth asking the GP

On a more reassuring note I am
A midwife and really problems are really rare. Most people who get to 12 weeks have healthy babies including those who drank, smoked and did all sorts of things you shouldn't do in early pregnancy. It is overwhelmingly likely that your baby will be okay.

Lottiedoubtie Sat 18-Jul-15 21:55:51

Do phone the number of the special midwife - they can be really really helpful flowers

SaggyAndLucy Sun 19-Jul-15 15:45:44

If you are really concerned then an amnio with full work up will rule out a lot. But it's not without risk, although VERY minor, and as others have said some defects don't show until birth or later.
I think the bigger issue here is your anxiety. obviously ttc especially when there are issues is very stressful, but I think you need to speak to someone about this. There are many reasons for feeling anxiety, antenatal depression being one, and none are anything to be ashamed of. Go and speak to your gp so that you can work through this and hopefully enjoy the rest of your pregnancy.

Tonicandgin Sun 19-Jul-15 15:50:32

Amil-I can't comment on the other stuff because I don't know enough. But if there was any damage to your baby because of fertility drugs, it wouldn't have been your fault. You followed the guidance to the letter and stopped treatment as soon as you knew.

It's hard but it's just one of those things. Not your fault.

MadameJosephine Sun 19-Jul-15 16:08:31

Unfortunately nobody can be guaranteed that no abnormalities will occur, no matter how many screening tests they have. Even if you had an amnio that would only determine if there were any chromosomal problems, it wouldn't rule out rare genetic disorders or structural abnormalities. Please try to hold on to the fact that the vast majority of pregnancies result in lovely healthy babies.

As far as the drugs are concerned, Am I right in thinking that means you were taking the medication for a couple of weeks after conception? Does that mean you stopped at around 4 weeks pregnant? If so it is my understanding that during these couple of weeks an embryo is actually relatively resistant to tetratogenic effects of drugs. The theory is that at that stage the cells aren't fully differentiated yet so if a cell is damaged another can take its place minimising any problems. Hope that is of some comfort flowers

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