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anyone ever received a prenatal diagnostic with CFC syndrome?

(6 Posts)
olivet6 Wed 20-Aug-14 21:21:27

I am 41 and due to NT of 5mm I had CVS performed at 13 weeks +2days. CVS came clear but sample was also sent for microarray and Noonan test. Microarray was clear but they have found a mutation in gene MAP2k2 and the lab wants now to compare it with parents' DNA. So my husband has to give his blood sample tomorrow to be sent to the US. If one of us has the same mutation then should be ok in theory but I am scared because what are really the chances of having the same mutation when changes in this gene are known to cause CFC... This syndrome is very rare 200-300 people in the world.
I had an early echo and early anatomy scan at 16 weeks but even thou they were considered normal it does not mean there is not a problem yet. I noticed slightly smaller femur size compared with head thou. Tests will be repeated next week. I read at least one person's case where CVS was clear and her baby did not show problems at her 20 week MRI scan and echo but baby was born with CFC even thou she was given 95% to have a normal baby. She did not have genetic testing thou.
Now we will have to wait another 1-2 weeks because this mutation is not documented yet. Meaning they are not sure can be pathogenic until they look at our DNA. I am just afraid we will be given some kind of high probability to have a baby with CFC but have to decide on those facts if continue or terminate a pregnancy we wanted so badly after almost two years TTC and fertility treatment.
I know this is a very rare case but anybody's related experience would be useful. Like knowing how the baby's was doing during pregnancy even if CFC was only diagnosed after birth. Thanks.

JiltedJohnsJulie Thu 28-Aug-14 18:31:15

Sorry olive I'd never heard of Cfc until I just googled. The wait must be awful thanks

crisc80 Mon 30-Oct-17 07:40:06

Hello olivet6,
I found this old discussion googleing "CFC prenatal" on the web, I hope you may help me. My brother's wife is 22 weeks pregnant and a BRAF mutation (ASP638GLU) CFC pathogenic has been detected by the Next Generation Sequency Amnio.
No NT anomalies no other signs (femur, head, liquid..) are detected via ultrasond up to now.
I would like to know if you know about pathogenic mutations that ended with no syndrome, if specific analysis could help and what your case was....they also need to decide quickly weather continue or not but it is hard to evaluate.
Thank you in advance!

crisc80 Mon 30-Oct-17 08:35:47

another importan question: How did you read at least one person's case where CVS was clear and her baby did not show problems at her 20 week MRI scan and echo but baby was born with CFC even thou she was given 95% to have a normal baby? Could you suggest me references? My private addresis crichicare@gmail.com
Thank you again

IceBearRocks Thu 02-Nov-17 03:57:45

Olivet6 ... Hi I'm a mum to a very rare boy too.
Despite his difficulties .he is wonderful child!
If you need someone to talk to...please PM me and also you can speak to one of the genetic counselors at unique.
Best wishes x

hendricksyousay Wed 08-Nov-17 21:56:49

@olivet6 you can tag the op

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