Tuesday, January 22, 2008

Prenatal Testing

The subject of prenatal genetic screenings and testing is a tough one for me to get a firm stance on. When I was pregnant with Aidan, my doctor asked if I wanted to have a Triple Screen Test done during my second trimester. Doug and I discussed how we felt the results of the screening would affect our decisions about the baby. I researched the accuracy and effectiveness of the test and had convinced myself NOT to do the test. Then the day of the appointment I discussed it with my doctor again and told him that after 14 months of infertility, we had no plans to end our pregnancy based on genetic conditions. He respected our decision, but suggested that since it is a simple screening, it would be useful to set our mind at ease and, if necessary, prepare for anything that might show up. We went ahead and did the test, got results a week or so later that everything looked good.

It was a feeling of relief to be told that we were not at high risk of having a baby with genetic complications, but we also felt a sense of "See? I told you there was nothing to worry about. What a waste of energy!"

When we were pregnant with Sean, again the opportunity to take the Triple Screen came up. This time we refused the test, thinking that we were not in a high risk category and we already had one healthy child, surely the second one would be as well. We figured anything wrong would be seen in the mid-pregnancy sonogram, so there was no reason to do the test.

We were wrong, nothing unusual was detected at the sonogram. Sean was born with Down syndrome and a heart defect. When we were told that he had Down syndrome, we were completely blown away. He had been home with us for three weeks, seen by several nurses and his doctor many times. No one suspected he had any health complications and till he aspirated and stopped breathing. We were life flighted to the children's hospital and the on board nurses suspected it immediately. They didn't say anything to us and it was confirmed at the hospital by the ER doctor.

It was such a surprise to us that I remember thinking, "You idiot, Deborah! Why didn't you just do that simple blood test! We could of had a chance to prepare ourselves. What if his heart defect had been life threatening? You are so damn lucky he didn't die!" I vowed to encourage every pregnant woman to do the prenatal blood screenings so that they wouldn't go thru the shock we did.

Slowly, my opinion has changed. As I learned more about Down syndrome, I realized it wasn't the Big Bad Bogeyman that the pregnancy books and OBs make you think it is. I also learned that 90% of pregnancies that test positive for Down syndrome are terminated. NINETY PERCENT! That is shocking! I think of all those parents that were so happy to see two pink lines on that pregnancy test. I think of all those mothers, laying in bed with their hand on their belly trying to feel their growing baby's first movements. I think of parents daydreaming about their baby, shopping for baby clothes and items, sharing the happy news with family, debating on names.

How can they love that unseen child so much then turn it off when they hear "Down syndrome?" NINETY PERCENT terminate that child because they are afraid.

We soon realized that we were the lucky ones. We didn't have to make that choice. We felt that even if we did know in advance, we still would of welcomed Sean into our family. Yet we are grateful we didn't have to spend those months worrying about his birth and future. We got to spend the pregnancy happy and excited, eager to meet him. Since he wasn't diagnosed at birth, we got to take him home immediately and spend three glorious weeks in oblivion. We spent that time adjusting to parenting two children and getting to know our new family member. We fell in love with Sean, without the worries right away.

In January, 2007, the ACOG (American College of Obstetricians and Gynecologists) announced the recommendation that all pregnant women, not just those over 35, be strongly urged to take prenatal screenings for Down syndrome and other birth defects before 20 weeks gestation. Obviously, this news is alarming in the Down syndrome community. The NDSS has a well-thought out response to this decree here. I agree 100% with the opinion of the NDSS and NDSC on this subject and am also supporting the Prenatally and Postnatally Diagnosed Conditions Awareness Act. I firmly believe that balanced information needs to be provided to expectant parents with a prenatal diagnosis.

So now I have come full circle. Ironically, now I am in a ""high risk category" for complications. I am over 35 and I have family history of disability. We lost two pregnancies in 2007 and I very much value the life of the baby we are carrying. Due to an isoimmunity issue I have, we have been referred to a perintologist and will meet her on Feb 4th. I am certain the subject of prenatal testing will come up. I have spent a great deal of time researching the various tests available and considering my choices. We are putting our faith in God and will be happy to have any child He gives us.


RK said...

Amen. WELL SAID! I appreciate your comments and your heart in this. We'll look forward to meeting this new little one and pray he'll be healthy and so will his mom.

JennyH said...

I had a level II sono with my 2nd and 3rd. The places we went only would do those IF you did the genetic counseling. Which is the billion of worthless questions. I have had 3 babies after Max and all is well. I didn't know with Max that he had Ds. I had 3 or 4 sonos and nothing showed up. However I wasn't high risk then so they may not have been really looking for markers. I did have the AFP with Max and it was normal. I did not have it with the others. I figured it was a waste of my time (and blood!!)

Anonymous said...

I am a mom of 9. Our 5th child Jonathan has DS. So, you see we had 4 after him. The testing thing was always a big issue, not for us but the doctors. With Wesley #9 I was over 35,labeled high risk, and have a blood disorder. So, to much information kind of made me crazy on what to do. Can't tell you what you should do but, I'll be praying for you. When you leave your decision at HIS feet he will give you an answer and peace that passes all understanding! Laura