Down Syndrome

It’s week 24 of my pregnancy and I recently received the results of my week 20 anatomy ultrasound exam. With each exam, my ratio risk for having a down syndrome baby increases. One wonders why a 31-year-old woman would have such a risk, but it seems while my vitals are all perfect when I complete my exams for me (test results for blood pressure, diabetes, etc), it seems my body doesn’t want to agree with them.

Before I took my week 11 exam, my risk for down syndrome was at about 1/575 – they gave this ratio to me based on the average ratio that women my age have in my region. That means 1 out of 575 babies may have D/S. I believe nationally, the ratio is 1/979 or something that to affect. Basically – very low. After my week 11 exam, my risk went to 1/359. That didn’t look good, but my doctor was not concerned because the high risk threshold is actually 1/300. Once you go over 1/300 then they give you the option to run a Chorionic villus sampling (CVS) test. This test detects genetic disorders including D/S by taking cells from tiny fingerlike projects on the placenta called the chorionic villi for analysis. This test is considered invasive and has a 1/300 rick of causing miscarriage, so only women with a 1/300 risk of D/S or worse are offered this exam.

At week 16, I had my 2nd ultrasound exam. My risk went up to about 1/325. I can’t remember exactly, but it got a lot closer to 1/300. At 16 weeks, your doctor can offer you the option to complete an Amniocentesis (Amnio). With this exam, they take a sample of the amniotic fluid and test the chances of D/S and other genetic disorders. It also is invasive and has a 1/300 risk of causing a miscarriage.

My doctor referred me to speak with a geneticist, but we did not take the offer. You’re probably wondering, “why?” Well, we wanted to wait to see the results of my final 1st trimester exam at week 20 first.

Well, the exam came and went and as I mentioned earlier in this post, my risk increased again. This time to 1/312. Again, closer to 1/300, but not above it. So, why did my risk go up again? My doctor said it’s because the technicians saw a bright light in my baby’s heart. Usually the light is an indication of the possibility of D/S. The thing is though, the Doctor said we should not worry because he feels the bright light contradicts the rest of the exam results that state all my baby’s body parts look healthy and normal…even the heart. Meaning everything looks the way it should shape-wise and size-wise.

My doctor offered us the option to complete the amnio anyway even though we’re below 1/300. He didn’t want to cut our options short just for 12 points. He also mentioned though that D/S is not common in Asian babies and that doctors these days often see the bright light in many Asian babies even though the babies are born healthy and without genetic defects. So, many doctors see it as a expected variance in Asian babies now.

In either event, my husband and I have decided not to do the amnio. Why? Because the fact of the matter is….even if we find out that the baby has D/S, there’s nothing we can do to change this fact. Yes, it’s upsetting to hear that my risk is high because I wouldn’t want my child to have to go through all the challenges of living life with D/S regardless how many advances they say the medical world has come up with. Every parent wants their child perfectly healthy when they are born. Especially in a world that is already so challenging. But this is one thing I can’t change. I can’t change the fact that the baby might have D/S nor can the doctors. We were blessed with a child after all the years that they told us it wasn’t possible (or slim to none). And so, my husband and I have decided not to take the risk… the risk that if we do the amnio my risk is high in having a miscarriage. Knowing my body and how things easily affect it, it would not be a wise decision.

Yes, knowing earlier means we can prepare earlier, but really whether we know for sure or not we can still prepare. We can still take the necessary steps to education ourselves on what it means to have a baby with D/S to prepare just in case. We don’t need an exam to tell us that we should take this precaution. At the same time, we will not worry about it either. Because to worry would be useless and unhealthy for me and the baby now. So, we will do what the doctor suggested we do -“take these results as a grain of salt. The ratios are simply a chance not a definite. There are many people with ratios worse than ours … in the 1/200s or worse and they too have had healthy babies”. So, we can only simply hope that our child will be born healthy and with all the proper body parts. But if it doesn’t, then we will take what we get because no matter what the baby that comes is our baby and we will love him regardless what state he is in. And because I am still truly a believer that everything happens for a reason, I will take what life gives me and make the most of it.

Leave a Reply

Your email address will not be published. Required fields are marked *