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.
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Antenatal tests
anyone ever received a prenatal diagnostic with CFC syndrome?
5 replies
olivet6 · 20/08/2014 21:21
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