Down Syndrome Scare

 It was optional to go for the Down Syndrome test to assess the risk of having a DS baby. We decided to go for it for an ease of mind. I was confident that it will be fine as I felt good and did not encounter those first trimester symptoms like nauseous and giddiness.

The DS test comprises of 2 parts: Blood test and detailed ultrasound scan for any abnormalities of the fetus. When I did the ultrasound scan test, the results were normal. My baby nasal bone was seen, the 

nuchal translucency was within normal range. Nasal bone and nuchal translucency are the key indicators of DS baby. There were no abnormalities detected. 

However my blood test was not satisfactory. The results showed my PAPP-A was lower than the normal range but beta-hCG was ok. Apparently this PAPP-A thingy is one important factor of DS baby. Because of this, I was assessed as high risk for a DS baby even though I am below 35 years old and the ultrasound scan results were fine. My risk level was 1/212. It means I had the risk of having a DS baby for every 212 baby. The cut off point is 300. Hence any figure below 300, it is considered as high risk. 

We are recommended to do CVS or amino test to confirm if the baby has DS. The accuracy is 100%. For CVS, it can be done between 10-12 weeks, amino will be around 15weeks. What they will do for CVS is to insert a needle into the womb and extract some samples from the placenta to go through testing. There is risk of 3% chance of miscarriage. 

The results gave us a shock as we had expected the results will be fine. I couldn't help but thinking all sorts of scenarios and frantically google what it means for low PAPP-A. I was not the only one facing the same problem, it seems a lot of mummies-to-be out there also got the low PAPP-A results scare. Some sharings online is that low PAPP-A might also hint there are some problems with the placenta which unable to provide the required nutrients to the baby and could caused miscarriage or premature babies. 

I was having sleepless nights thinking what should we do if it is really a DS baby. Should we keep it or not? The irony is that given the risk of 3% miscarriage, what if the results showed that it is a healthy baby but miscarriage during the CVS procedure. It will be a most devastating and regretable thing to happen. 

However the option of not doing it would make us worried during the pregnancy on the possibilities. If it is a DS baby, are we prepared mentally and physically for that too. After discussing with boovie our options, we decided to go for CVS as it can be done earlier and it would be done by Prof George Yeo who is very experience and reputable as shared by the DS counsellor. Hence it is an assurance and consolation that it should be safe.  We just want a peace of mind that our baby is healthy although my instincts told me that my baby is fine. 

It was a tramautising experience for me to go through CVS. First they did the ultrasound scan to determine the location of the placenta where the needle was going in. Then they performed local anesthesia to the part where the needle was going to be inserted which was somewhere below the belly button. During the whole process I was awake and I can also see my foetus on the ultrasound scan display. Prof Yeo told me not to move during the process as any slight movement might affect the procedure. The needle was very long and thick, think it is about 1 metre long. Athough I don't feel pain, but the thought of having a sharp needle going into my womb frightened me. I closed my eyes and hold my breath, praying to God that my baby be safe. It was done in less than 5 minutes but to me that short few minutes seems to takes a long time and I can't wait to get it over. 

I was given 2 days of MC to rest at home. I was advised to rest in bed and try not to move too much during this 2 days. After the anestesia effects went off, I sensed slight pain and discomfort around my lower abodemen area especially if I moved. I was confined in bed for the 2 days and dared not move around. 

This is truly not a good experience and I hope they can invent some ways to be able to test for DS without going through such a risky procedure as it involves a precious life. 

The results were out after 2 weeks and yes my baby was fine and it's a girl! Honestly, I'm not sure if I want to go through this again if I have a second child. 

The low PAPP-A thing was still lingering on me and we were thinking to engage a gynae for better assurance that the pregnancy process be smooth. However we were relieved on the good news and postpone the thought of having a dedicated gynae since in KKH the charges of a random gynae or checkup cost much lower. However we regretted this decision again in the later episodes.