Interim Results

Our Guardian Angel was most certainly with us today when I got a surprise call from Prof Jefferey's assistant Vicky. She called to tell us that the preliminary results from the CVS procedure were in and "its good news".

So far so good, no chromosomal defects have been detected. She advised us that we could "relax a lot" and that she would call again when she had the final results. We are feeling very relieved, however are fully aware that we are not home dry yet. Firstly we still have to wait for the final results which are still outstanding and even then it was very clearly explained to us that there could still be other problems that can only be detected when Jellybean is bigger.

Once again, THANKS a ZILLION to all of you, for all your support, understanding, prayers, love and positive energy you have sent our way over the past week! It has truly been one of the longest weeks we have had to endure and having not really slept since Sunday, are looking forward to the weekend to catch our breath. We remain positive and will keep you all posted as more information comes to light.

Only Time Will Tell...

Yesterday we were lucky enough to be called in for an appointment with Prof Jefferey. We were called in the morning and advised there had been a cancellation at 5pm and we were offered the appointment. So, at 3pm went dashing of to Pretoria as you never know what the traffic will do and this is one time neither of us were chancing anything. I must say, during the day, it felt like each second that passed was an hour and the day just dragged!!

Prof Jefferey did another scan of our little Jellybean and measured "him/her" to be just over 7cm head to rump and heart beat at 150 beats/min. We got to see arms and legs swimming about again and even all five little fingers waving in front of the face. On measuring the Nuchal Fold our worst fears were confirmed with an above average thickening of the fold. She remeasured a couple of times to ensure she was getting an accurate measurement and also poked my tummy to make sure Jb was not lying against the uterus wall. This was to confirm that what she was measuring was truly the nuchal fold and not including anything extra like the lining of the uterus.

She then did a computer generated calculation of our risk. This calculation takes the results from the triple screen blood test, my age as well as the nuchal fold measurement into consideration. Under normal circumstances our risk factor would be 1/564 but in this pregnancy our risk is escalated to 1/60. This is all still considered a screening test and is not a conclusive diagnosis. Factors to be considered are the risk of chromosomal defects - such as Down Syndrome, structural defects - like poor bone development or even heart problems. There have also been reported cases of perfectly healthy babies who for no apparent reason have a thickening of the nuchal fold.

Having had all this explained to us we were then offered the option of two diagnostic procedures, namely an amniocentesis which can only be done from 16 weeks or a CVS (chorionic villus sampling) which could be done immediately. Being diagnostic tests as opposed to screen tests the results are basically 100% accurate. Prof Jefferey is one of four doctors in SA who perform the CVS procedure. The other Prof who we were first referred to is another and then the other two are based in the Cape.

Basically, the CVS works on the same principal as an amnio - a needle is inserted into the placenta via the abdomen using the aid of the ultrasound to guide them to the correct location, cells from the placenta are drawn out and sent to be grown in the lab. The benefit of having the CVS as opposed to the amnio is that we will have a better idea with what we are dealing with sooner. We will have the initial results with a 95% accuracy next week Wednesday and the conclusive results approx 2 weeks after that - around 8 May. However should the CVS results come back negative for any chromosomal defects we then have to wait till 20-22 weeks when the structure/heart can be examined more clearly for any other defects.

I am to "rest and relax" till the end of the week because as with the amnio there is still a risk of miscarriage. The risk is between 1-2% internationally. As I mentioned before, we are just dealing with each bit of information as it comes to us and trying to remain positive.

Thank you all for all your love, support, good wishes, positive energy and prayers. Even if we are "scarce" for the next few days/weeks PLEASE keep them coming - God knows we need it right now! XXXXXXXX

Stubborn Already

Today Jellybean is 12 weeks and 5 days old and stubborn already! During our scan our little Jb was kind enough to show us "he/she" is actually human and no longer the alien I thought I may be carrying. The heartbeat was super strong at a whopping 159 beats/minute and the facial profile looked great with an adorable little button nose. Jb was very active and we could clearly see the legs, arms and even hands flying about. At one point we got a glimpse of legs extended with 1 foot over the other as if "he/she" is on dad's yacht!

However Jb was not the most co-operative when it was time to measure the "nuchal fold". This measurement is one of the indicators for chromosomal defects such Down Syndrome. It is very important to have baby lying in a specific position in order to get an acurate reading. So after much prodding and poking,which was not the most comfortable for me....., eventually the measurements were taken. There seem to be a variance between the measurements and sadly our Dr is not too happy with the nuchal fold measurements. Although she was extremely happy with the shape and size of the nose bone, she has decided to refer us to a Prof in Pretoria for a second opinion(the nose bone is also one of the indicators used to detect abnormalities) . You may ask why not a Dr in Joburg? Well the first refferal was for a JHB based Dr who unfortunately is currently out the country and his earliest appointment would be 28 May. The earliest we can see the Pretoria Prof is on Thursday at the Pretoria Academic Hospital on a 1st come 1st served basis. Unfortunately her private practice is over booked for tomorrow although we are on the list should there be a cancellation.

At the 12 week scan, in addition to the "Nuchal Translucency Thickness" measurement, the Dr will also do a triple screen blood test. The blood is tested for early indicators of any abnormalities such as Down Syndrome or Spina Bifida, these blood tests are merely indicators and are not conclusive. There may be false positives as well as false negatives.

As far as Thursday goes, we will have another scan and see what the second opinion measurements are. Being a government facility hence the 1st come 1st served rule, we plan to be there before they open, hopefully get registered early and then get to see her ASAP. We are truly hoping that this will all turn out to be fine and are very greatful to have modern technology so readily available.

Until then we will take each day as it comes and will make further decisions as we get more information.