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Anyone know what kind of tests can be done?

(16 Posts)
Girlwithnoname1 Sat 03-Oct-15 19:23:22

I've not long found out I'm expecting for the second time, am just over 6weeks.
It's been along time since I did all this, DD is nearly 12.
Trouble is DD has an unknown genetic disorder that's neuro-degenerate- none of this was picked up during my pregnancy-despite a few iffy test results at the time, as a teenager I'm pretty sure I was dismissed through the whole process, and I certainly wasn't listened to about my concerns when she was born. As a result it wasn't until dd was at school someone finally believed there was a problem & listened to me. DD is now in a wheelchair, tube fed, struggles to talk, see, hear, at times breath. We know the outlook isn't good.

Others with children with this condition usually get picked up during pregnancy, although it tends to be in the states, I know of only 2-3 cases in the UK.

Anyway sorry to drag on, but the midwife is refusing to see me until I'm 9 weeks - despot my concerns this baby could also be effected.

As I said it's been a long time since I've done all this & it's all changed.
What kind of tests have people had? I feel utterly in the dark. So far the GP has said its a 50/50 risk.

lougle Sat 03-Oct-15 19:42:05

I'm sorry you were dismissed. It's awful when no-one will listen.

If it's an unknown condition then a FISH (Fluorescence in situ hybridization) test will be out of the question because it looks for specific genetic information.

A microarray can show deletions and translocations but you'd think that your DD's condition would show up if it was likely to show with the new baby.

In short, I'm not sure that there's anything that would identify it if it hasn't been identified for your DD.

Is she in the DDD (genome mapping) study that has been going since 2011?

lougle Sat 03-Oct-15 19:43:07

Were the other children picked up through ultrasound findings or genetic testing?

Girlwithnoname1 Sat 03-Oct-15 20:05:16

Thanks guys - she's on the DDD study but no results yet -
Realistically DD's condition now days could be picked up on a scan, I'm not sure about the technology when I was pregnant with her, but now days I know of others who have had it confirmed in a scan.
The condition has basically caused DD's brain to degenerate- or certain parts of it, it's complicated as every other child I've come across with this, had an abnormallity in the brain from birth - but because DD's frirst MRI wasn't done until she was 7 we don't know if that was the case with her.

daluze Sun 04-Oct-15 13:12:45

Firstly, I seriously doubt that the risk is 50/50 for the next child, because you do not have the condition yourself.
You need to get genetic councelling about it - the risk depends very much on how condition is inherited. As for tests, since the exact genetic cause is not known, they won't be able to do genetic test. But you need to get a specialist scan with Fetal Medicine Unit.
Can you ask GP to refer you to genetic councellor?

Girlwithnoname1 Sun 04-Oct-15 19:11:54

How would I get referred to a Fetal medicine unit?
My GP said a genetisit couldn't help whilst pregnant- especially as we've had lots of genetic tests for DD & come up with nothing.
Again it was my GP that has said its a 50/50 chance- I haven't been able to speak to a midwife yet as they wont see me until I'm 8 weeks - appointment is booked for when I'll be nearly 9 weeks. I have asked if they'd see me sooner but they won't.

JellyCurls Sun 04-Oct-15 19:15:21

Sorry to hear your woes, it's horrid to be dismissed by a midwife. My DD has a rare genetic condition that is non heredity, well the docs think it's genetic as all kids share similar traits and no genetic flaw can be found.

Anyway, with my later babies I insisted on being on red pathway (consultant led care and not midwife led) and have consultants do my 20 week scan. Normal scan at 12 weeks as wouldn't have been picked up then. Definitely ask to speak to a geneticist and good luck xx

Miloarmadillo1 Sun 04-Oct-15 19:27:02

I don't think the delay in seeing a midwife will make any difference. There is not enough detail on early scans to detect abnormalities, you probably have to wait until 2nd trimester to have any detailed scans. I would be contacting www.fetalmedicine.com to see what they advise, but it may be a case of looking at 12 and 20 weeks. Genetic testing is unlikely to help you if your DD's condition is unidentified and the detailed genetic tests are too slow to be of any help - we are 8 months into waiting for gene panels for our baby DD. Your GP is ridiculous to say it's 50:50 when you don't know what the defect is or how it is inherited - the worst case scenario if both unaffected parents carried a recessive gene is 1/4 offspring affected and in reality it's normally much more complicated than that for inherited conditions, and much more likely that DD has a random genetic mutation and didn't inherit it at all. I really hope whatever has affected your DD is a one off and that the baby you are carrying is unaffected. flowers

cestlavielife Sun 04-Oct-15 19:36:23

You need to ask for referral to fetal medicine unit for consultant led and extra scans including 4d. An mri can be done in útero but probably later eg 20 weeks plus. Your gp is incorrect as you would need to have the condition for it to be 50 50. But you won't get much information before the 11 to 12 week scan anyway as you don't know the gene to test for.

Girlwithnoname1 Sun 04-Oct-15 20:26:38

Thank you guys,
That's really reassuring that i can at least request a higher level of testing/monitoring during pregnancy. I get the impression it's something my GP is woefully in the dark about (which is of course obvious considering they managed to fob off DD's illness for years until it got to the point that it was really noticeable, and still spend half hour reading her notes before even actually talking to DD or me when we do have to come in, then usually still get it wrong! Lol.
I think the best thing will be to wait until I see the midwife in just under 2 weeks, and explain my requests & ask them to back up my referral. Although I got notified I have a newly qualified midwife who's just started this week when I booked. Not holding out much hope. I've got a feeling this could be a bit of a battle getting through to them.

Awasedc Sun 04-Oct-15 21:52:43

Have sent you a private message

BettyBitesBums Sun 04-Oct-15 21:58:17

The hospital you are booking at should have an antenatal screening coordinator (if there's no information online the hospital switchboard should be able to put you through to them via the antenatal clinic). If I were you I would give them a ring and find out what the pathway would be at that hospital. Often they'll then bring you after booking to get as much information as possible and then liaise with your fetal med unit to find out when they would want to see you.

RooibosTeaAgain Sun 04-Oct-15 22:13:59

Hopefully your midwife will refer you to Fetal medicine at the hospital and they will see you ( though as others said they are unlikely to be able to see anything on scans in the first trimester. I have my 20week scan done by a consultant due to problems in previous pregnancies.

For what it is worth I would love a newly trained midwife - they should be keen and refer quickly and hopefully very supportive ( well that is what I would hope for someone new into community work!) If your midwife does not refer you to Fetal Medicine then you can phone the Supervisor of Midwives at your local hospital and ask to talk to them to find out how and when such a referral is to be made.

cestlavielife Mon 05-Oct-15 14:47:58

It shouldn't be a battle. Just say your oldest haa undiahnoses genetic condition amd you want extra scans and monitoring. My oldest ds had problems and I has no issues getting referee to fetal. Medicine for scans for dds . Should be midwife referring anyway.

Girlwithnoname1 Mon 02-Nov-15 21:29:57

Hey guys,
Midwife is a total waste of my time - she's more concerned with 'my support at home' with DD than the health of my unborn child.
She refused to refer my to a fetal medical unit - instead leaving that to the consultant who originally wouldn't see me until 18 weeks - I've managed to get that forward to 16 weeks - although midwife hasn't given me an official due date - and didn't put it on the notes when requesting my 12 week scan - so they'd booked my in at 14 weeks- again I managed to get that bought forward to 13 weeks (next week) after explaining my worries to them.
Man this is almost as stressful as managing DD's hospital appointments!

bishboschone Wed 16-Dec-15 16:45:55

Did you get any testing done ? I'm fairly sure they can do a micro array on a baby in utero . They can do amnios and cvs too . My son also has an unknown genetic condition but my daughter ( born previously ) doesn't .. I hope they took you seriously .

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