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Original poster

Amnio tomorrow after a devastating day ... So scared

48 replies

Stargirl7 · 05/06/2014 20:21

Hi all,

Had our repeat 20 week scan today and baby has a unilateral cleft lip and her femurs are measuring in the 5th centile. I'm going for amnio tomorrow and terrified. I don't even know what to start worrying about first. My quad results were so low risk that it's come as a major shock really.

OP posts:
Lanabelle · 09/06/2014 10:27

Will be thinking of you and yours tomorrow. Thanks

Gobbolinothewitchscat · 09/06/2014 10:29

Offering a squeezed hand. Am thinking of you and your DH Flowers

Original poster
Stargirl7 · 10/06/2014 16:45

Just had the call for the first set of results... All clear for Downs, Edwards and Patau! My heart is going a mile minute ! Full report in 7 days but touch wood it's just the cleft in isolation and short legs like her parents!
Thank you all so much for all your kind thoughts and prayers. You gave me support when I needed it most and I'm very appreciative. Thanks

OP posts:
WireCat · 10/06/2014 16:48

That's wonderful news xxx

chocolatewine · 10/06/2014 17:07

Very good news. hope you and your husband enjoy the rest of the pregnancy.

minipie · 10/06/2014 17:08

Very glad to hear that. Hope the full results come back fine too.

PseudoBadger · 10/06/2014 17:09

Glad to hear that x

ThermoLobster · 10/06/2014 17:48

Great news. Fingers crossed for the rest of your results.

JiltedJohnsJulie · 10/06/2014 20:55

That's such good news Smile

Ledkr · 10/06/2014 21:04

Wow. That's amazing news. My dd had cleft palate and is 3 doing absolutely fine. Pm if you need to ask anything.clappa are amazing support too.

Gobbolinothewitchscat · 11/06/2014 11:32

Wonderful! Delighted for you

CrispyFB · 11/06/2014 15:46

That's wonderful news!!

All four of my DC have short femurs, just like their mother. I worried with the first one, but after that I just laugh and say they'll have the same problems finding trousers that fit like I do, and it's obvious they're mine! They always measure well over the 50th (and in fact the 90th for head circumference in one case) for everything else and under the 10th for femurs. Genetics :-)

Hoping the cleft is not too much of a problem!

Tranquilitybaby · 13/06/2014 17:57

Ahh such good news! X

Original poster
Stargirl7 · 19/06/2014 11:14

Thanks again all for your support...I was like a little black cartoon cloud and it was great to be able to log on and find your comments.

Should I be worried that the full results have not come back yet? We rang the clinic on Tues (7 days after first set of results) and they basically said when they know, we'll know...so I've gone back to work and my phone hasn't left my side. Not sure I can go through another weekend of this! Feel like it's a bad sign? I'm not even sure what they test for in the full karyotype, despite all the 'Google' research I've been doing.

I'm 24 weeks today, so should be celebrating but I feel like we're still in limbo.

OP posts:
minipie · 19/06/2014 11:31

We had the full karyotype done too. Basically they are checking for rarer chromosomal disorders (not the Downs/Edwards/Patau ones). These are much rarer than the 3 trisomies they've already reported on. It always takes longer to do the full karyotype - 10-14 days on the website I just looked at - so you're still well within that I think? The time taken depends on how long the cell culture takes to grow so will vary. Not a bad sign if it takes longer.

That said, I would ring again tomorrow anyway... just in case it's sitting on someone's desk and so you don't spend the weekend wishing you'd called. Really hope it's all clear for you whenever you do hear.

They can tell you the gender from the full karyotype too - if you want to know.

minipie · 19/06/2014 11:31

Oh, sorry, just realised you already know the gender!

Original poster
Stargirl7 · 19/06/2014 11:34

Thanks minipie. I guess it all feels like it's taking much longer than it is.
They told us it was definitely a girl Smile which I told everyone it was (everyone thought it was a boy but me)
They also mentioned there are no extra Xs or something? Or that her X's were normal? Wasn't sure exactly what that meant and was too shell shocked to ask at the time.

OP posts:
minipie · 19/06/2014 11:49

I believe there is something called Turner's syndrome where one of the Xs is missing or abnormal - so sounds like you have escaped that one too Smile

It does feel like forever I know. The waiting is the worst part. Fingers tightly crossed for you.

daluze · 19/06/2014 16:13

Not a bad sign at all - it just takes time to grow cell culture, and afterwards quite a bit of manpower to assess the karyotype. I am sure your sample is marked as priority due to your stage in pregnancy though. (I used to work in genetics lab, btw) Fingers crossed!

Original poster
Stargirl7 · 19/06/2014 16:16

Thank you all for your advice and kind words. We literally just had the call to say it's normal! Just the cleft lip referral and growth scans to go now. X

OP posts:
minipie · 19/06/2014 17:23

Oh fantastic fantastic Smile so relieved for you. Hope all continues without any further surprises!

daluze · 19/06/2014 22:34

Wonderful! What a relief!

HappySmileyFace · 20/06/2014 12:28

Great news. So pleased for you.

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