At the time of the first scan occurs a test called the 'First-Trimester Combined Screening'. This involves a measurement being taken of the thin layer of fluid at the back of the baby's neck, called 'nuchal translucency' and a blood test measuring for high levels of 'pregnancy-assocuated plasma protein A' (PAPP-A). High reads in each of these may indicate a risk of trisomies. The Combined Screening test takes into account these tests along with age-related factors to develop an overall risk of your child having any of three trisomies.
There is a very good chance that you (assuming you haven't been through this yourself), like me up until this point, have no idea what 'trisomy' actually is. Trisomy 18 is also known as 'Edwards syndrome' and Trisomy 13 as 'Patau syndrome'. Both are characterised by various organ defects. Our results indicated that our baby was at a comfortably low risk for both of these conditions.
Trisomy 21 is more commonly known as Down syndrome. Our baby's risk for Trisomy 21 came back as 1:66, considered "high risk". This was something of a shock.
The fears we had experienced regarding our pregnancy up until that point had revolved around the possibility of miscarriage. The potential that our child might make it into the world, but not be Western-World "perfect" had scarcely occurred to us (despite my various rantings about a two-headed beast). Yet, this was the reality we were immediately faced with.
Now, as much as a ratio of 1:66 is considered to be "high" statistically, it does pay to remember at this point just how low a chance that is in the real world. 1:66 is about 1.5%: that's quite low. Before last Christmas my work put people's names in a hat to see in what order leave would be granted for that popular, but busy period. At the outset my chances of scoring priority leave were 1:13. It wasn't until they were down to 1:8 that my name was drawn. At the risk of embarrassment I won't say too much about my gambling history, other than to state that it is just as well I have partaken little in it, because I have never come away ahead (except one ANZAC Day when I got into the 2-up, but one would hope for a bit more luck with 2:1 odds!).
Back to our test results: In this situation you are given the option of Amniocentesis. This involves taking a sample of the amniotic fluid surrounding the foetus (with a rather large needle), which carries sufficient information to be able to diagnose Down syndrome with 99 percent accuracy. It also carries a risk of miscarriage somewhere in the vicinity of 1 in 200.
Considering this, the amniocentesis is only a viable option if you would consider termination in the case of a positive result. Having seen Baby kicking and dancing on the ultrasound just three days prior and recognising that people with Down syndrome can live a very happy and fulfilling life, this was not a choice for us. Therefore, we will have to wait approximately six and a half weeks until our next ultrasound, which will be performed at 19 weeks. This was booked in with a specialist who will be able to look at the organ development and tell us with substantial accuracy whether or not Baby has Down syndrome - without the invasive and dangerous test.
This means six and a half weeks of not knowing if Baby's birth will change our lives substantially or entirely. We have prepared ourselves emotionally as best we can for the possible outcome that our child could in fact have Down syndrome. Already this has changed our appreciation for life and has forced us to place our trust in a plan greater than our own. It is amazing how quickly priorities change: a day earlier we were busting to get to the next ultrasound to learn if Baby was a Jack or a Jill; now Baby's gender seems of little consequence at all.
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