Its been a while since I've posted here. This is going to be a very long post, so I won't be offended if you choose to stop here.
A bit of background information about me before I get to my questions:
I am 26 years old, my husband is 30 years old and I am 13w2d pregnant with our second child, with a due date of 7 October 2013. As with our first pregnancy, this baby was conceived on 75mg of clomid due to unexplained ovulation issues.
My first pregnancy produced a beautifull, healthy baby girl who was born at 36 weeks exactly two years ago (its her bithday today) due to severe pre-eclampsia (I had no symptoms or issues leading up to the 36 week mark, it came on very suddenly). As a result, I am currently on 100mg of cartia (aspirin) to mellow my blood pressure and hopefully prevent it from happening again, or atleast mitigate the severity. Our NT result for the first pregnancy was in the low risk category, around 1:1050.
So far I have had 3 scans during this pregnancy - one at 8 weeks with our OB, which showed the baby measuring at 8 weeks exactly with a healthy heart beat, one at 12w3d for our NT test at an imaging centre and one yesterday at 13w1d at our regular OBGYN appointment.
At the NT scan and yesterday's OBGYN scan the baby was extremely active, bouncing all over the place and swimming around happily. This was reassuring to see. Baby's heart beat at the time was 153bpm.
I have had moderate morning sickness since finding out I was pregnant at about 5 weeks. I have had severe nausea and aversion to food but until this morning (more about that in a minute) I had managed not to throw up.
Our NT scan went well, the baby seemed to be thriving and I believe measuring slightly ahead (atleast the head measurement was). The sonographer had trouble getting measurements due to baby moving around too much, but in the end she got the measurements she needed and everything with the baby's anatomy checked out (nasal bone detected and measured, kidneys, bladder and stomach all normal and from what we could see, a normal spine). With her comment of 'it all looks great' we left the appointment feeling positive. I had already had my bloodwork done the week before to expidate the process.
We had a regular appointment with a fill-in OB yesterday as our regular OB is on holidays. She hadn't received the full report from SAMSAS yet due to the easter public holidays but advised she would write to us when it arrived and only call if there were any concerns with the results. The scan she did showed a bouncing, seemingly healthy baby and she even commented that he/she had a 'beautiful profile'. We left feeling even more encouraged, as we truthfully weren't particularly concerned about the NT results due to our young age and lack of prior history with any genetic issues.
Yesterday evening as we were about to sit down to dinner, the OB on call phoned me to advise that the NT results had come in and that the baby was classified as being at an increased risk of having down syndrome with a risk assessment of 1:150. She went on to tell me not to worry too much and that my odds were still pretty good but that she wanted us to come in to discuss our options. I was (and still am) very shocked and was very upset last night and this morning about the result. I realise that its not as high risk as some, but with our age, good health and a previously non-eventful test during our first pregnancy, I wasn't expecting a result in the high risk category. This all the day before our daughter's second birthday, which made me feel even worse as I wanted to be as alert and happy as I could be for today. My husband is concerned too but is being really sensible and not jumping to conclusions as yet.
We made a time to see another fill-in OB this morning to discuss. He wasn't particularly helpful or sympathetic, and seemed a bit at a loss as to what to tell us. He could barely locate the results on his screen. He said that the increased risk was due to my blood work, as the scan yielded a healthy baby with no noticable abnormalities or markers. My beta hCG levels at 1.76 MoM and PAPP-A levels at 0.47 MoM were both too high and too low, respectively. He asked if I had bad morning sickness and when I said yes he said that it would have been due to my hCG levels being double what they should be at this stage (ironically, when we stopped at a local park after the appointment for my daughter to have some play time I felt so sick that I threw up at the park. Not sure if this was due to stress or m/s, but either way it wasn't pleasant timing).
He then went on to say that its a rather large window for 'normal' hCG levels at this stage - so he really wasn't confident enough to reassure me. I know from my own research that low PAPP-A can point to pre-eclampsia and potential pre-term birth amongst other things, but he couldn't confirm or deny that theory when I asked him. Its already a given that I'm at relatively high risk of developing PE again, but I'm being monitored accordingly and am mentally prepared if it happens again.
In the end, he gave us our options and, understandably, he couldn't recommend a direct course of action (which is fine, I understand that they can't sway your choice but can only lay out the options). He didn't seem particularly concerned and didn't seem to think CVS was necessary, which suited us fine as I had already decided against that particular procedure. He seemed to think that amnio was the way to go if we weren't 'comfortable with the risk factor'. In the end we decided to wait and see our regular OB when he returns from holidays in 2 weeks and seek his advice, and then make a decision from there. There is another OB at the practice who himself performs the amnio procedure 4 times a week and has done for years, and he along with one other specialist are the two most well-known and well-respected in the field where I live. If it came to it, I know that we would be in good hands, despite the added risk of having a miscarriage due to the invasiveness of the procedure.
I don't want to come across as being ungrateful or that any outcome that suggests a baby with d/s would mean the end of the world, but ofcourse we all want the best for our families and in our situation I don't know what we would do if the results were not good. I am trying to tell myself that 1:150 are still good odds in our favour, but its hard to think that way when you compare it to other test results that are in the thousands.
I should mention that, according to the SAMSAS report (which I obtained a copy of today), I am not at increased risk of Trisomy 18 - the risk assessment for that came back at 1:15888 - so its just the Trisomy 21 assessment that wasn't good.
I'd love to hear from you if you've had any experience with this, can you tell me:
- What did you end up doing in terms of testing?
- Were there any adverse side effects from the amnio?
- If you didn't test, how did things turn out?
- Do you know of any other reason why my hCG levels and PAPP-A levels could be so out? (hCG too high and PAPP-A too low).
We ultimately want whats best for our baby but we are between a rock and a hard place, as many parents before us have been, and don't know whether to take the chance with the amnio despite the risk or be content with further scanning. I know that with my anxiety either decision will make the next 6 months very trying for me but I know that either way we need to just decide.
Thank you for reading this ridiculously long post, I really appreciate it.