A Good Reason for Prenatal Screening Your OB Probably Won't Tell You About

A recent article about prenatal screening in our local Sunday paper triggered one of my pet peeves (A Vanishing Breed, by Marilyn Marchione, The Tennessean, Sunday, February 21,2010). Some of you might have seen it, it was an AP article so might have been in your local paper as well. The header under the title reads: "With lower costs and greater access, prenatal screening is close to eliminating some genetic disorders." The article discussed how parents are using genetic screening of themselves or of embryos to limit the occurrence of hereditary medical conditions like Cystic Fibrosis or Huntington's Disease. Some dating services are screening members then discouraging connecting with other members who are known carriers for genetic disorders as an ethical approach to reducing hereditary diseases.

The article talks mostly in terms of medical conditions that will affect the health of a baby and could be life-limiting in some cases. But the article also mentions Down Syndrome, with the disclaimer that DS is not usually something that the parents can be screened for, but that it is a chromosomal disorder that can be diagnosed during pregnancy with common prenatal screenings (we can get into the exceptions to this later if you want). My pet peeve is not an angry one, but more of confused frustration. There is a good reason for prenatal screening that has nothing to do with terminating a pregnancy, rejecting embryos before implantation, deciding whether to conceive together, or steering you away from future mates. So how come OB's rarely talk about this reason and it's rarely presented as a point of view in articles like this?

In January, 2005, I was 39 years old and trying to get pregnant for the first time. Like many, my answer when I asked if I planned to have prenatal screening was "Why? It's not going to change anything." Then, one day as I was working a shift on a post-partum floor, one of the other nurses brought a newborn to the nurse's station because he was having difficulty feeding. His blood sugar was low and he was acting sleepy, but we managed to get a little formula into him. His belly began blowing up like a little balloon in front of our eyes, and he started laboring to breathe.

I stayed with the baby while his nurse was calling the pediatrician, and began assessing him. A little over four hours after a traumatic vaginal delivery his face was still swollen and puffy, but the shape of his eyes and the bridge of his nose made me suspicious. His ears were slightly lowset and his neck seemed a little thick. Then I saw the creases on his palms and had no more doubts. This baby had Down Syndrome and obviously was born with some medical concerns that were interfering with digestion and possibly a heart condition. His parents had no clue. And to make this moment more painful, he was the first baby born into a new church. The waiting room and mother's room were full of his excited church family eager to welcome him. I will never forget the look in his mother's eyes when she saw how hard her baby was working to breathe and was told that he needed to go to NICU immediately for stabilization and further testing. Five years later, I still cry at the memory.

I decided then and there that this would not be my baby and I would not be that mother. If my baby needed help, I wanted help waiting for her in the delivery room. I didn't want our celebration to turn to tears and possibly fear for my baby's life. I wanted my baby to have access to every technology and any specialist that could save her life and spare us from this type of emotional and medical crisis. Choosing prenatal screening suddenly became a way to choose life by protecting it. I had no clue at that time, but two months before I conceived my daughter God was opening my eyes to the most precious reason of all to agree to prenatal screening - and it saved my daughter's life.

When I had my amnio at 17 weeks, I never expected to actually hear that my daughter has Down Syndrome. My pregnancy probably would have been followed closely because of my age and my daughter's tiny size, but we'll never know if I would have had ultrasounds as often as I did (every two weeks) without her diagnosis. We'll never know if I would have had that heart wrenching ultrasound at 26 weeks when her placental blood flow problems were found, or if she would have died quietly inside me before our 27th week.

I do know that we had state of the art prenatal care and an opportunity to choose where we delivered based on my daughter's now known needs. I am so grateful that I had an opportunity to work through my reaction to the diagnosis and return to the joy of preparing for my first baby. There was time to begin educating ourselves about her possible needs and her potential as a person. She had her first echocardiogram by a Pediatric Cardiologist before she was born. There would have been a NICU team waiting for her in the OB OR even if she had not been born so prematurely. She received the care and special planning she needed, and God made sure that as her parents, we received the loving support and education we needed.

It took 88 days in NICU, but my baby came home. I hate her medical issues and worry about her developmental delays, but I am so proud of Clara-Bear. I'm excited for her future. I don't want to wish her childhood away, but I cannot wait to see what kind of person she will be when she's grown up and am so excited at the thought of watching her change and grow! Aren't these good enough reasons to talk to your OB about prenatal screening?

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