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Got a genetics appt for dd, what to expect?

3 replies

Islamum · 06/04/2008 11:38

DD was born with an extra didgit on both little fingers and broad great toes. We were referred because the ped. consultant was worried it could be rubinstien taybi syndrome. She seems to be developing normally, so I don't think she has rts, but want to rule out any thing else these features may be a marker for iyswim. Pediatrition said appt. may be a bit of an ordeal. Anyone else had a genetics appt after dc born with abnormalities? What can I expect?

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Sidge · 06/04/2008 13:59

We had to provide a detailed account of our family tree and all illnesses/diseases/abnormalities. So I had to speak to lots of family members and write it all down prior to the appt.

They also took blood from DH and I (had already taken DDs blood).

bigcar · 06/04/2008 14:14

I certainly wouldn't call our visit to the geneticist an ordeal! It was a long appointment with a whole heap of questions, but not in any way unpleasant. We went to get a diagnosis for dd3 who was 2 last week and has a heap of problems, we were there about 4 weeks ago. The doctor was lovely, took loads of notes, firstly on family history. She wanted to know everything about me and dh, our parents, brothers and sisters and their children as well as dd3s siblings, took a while we have a large family! She then took a detailed medical history for dd3 including the pregnancy and gave her a complete checkup, weight, height, listened to her chest, felt her tummy, spent time looking at her face etc. She was able to tell us on the spot what dd3 had which was a huge surprise. The doctor has said she would like an mri scan, bloods, skin biopsy and a renal scan but it was up to us whether we wanted that done, there was no pressure at all to do that and these tests were suggested because of the diagnosis she gave. I think blood tests are quite common, some doctors will take blood from both parents, others from the child, depending on what they think may be the problem if any. I think our appointment may have been for about 45 minutes but ran quite a bit over. Of course we were very nervous about going to see the geneticist but it really wasn't that bad!

Islamum · 06/04/2008 16:17

thanks guys, that puts me at ease a little. I think my ped. is a bit sensitive, she was very worried i'd be upset when people noticed dd's toes! Far as i'm concerned shes beautiful and anyone who disagrees isn't worth my ennergy, but no one has yet made any comments at all appt isn't til 14th may

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