Tuesday, October 11, 2011

Pre-natal Testing

I remember when I got pregnant with Jayden and after a few visits to the OBGYN I was asked if I wanted to get a triple screening done.  I knew essentially it would tell me if there was anything "wrong" with my baby, but I figured given my age and that I am relatively healthy, what was the point?  And I wasn't sure if my insurance at the time would cover the testing, silly reason not to have a test done right, but really what "risk" would I have in having anything other than a very healthy baby?  Plus, no matter what any test results came back saying, I was having a baby, my baby, period.  So I opted not to do the testing, and had a wonderful pregnancy, gave birth to a beautiful, healthy baby girl on the due date that was picked for me and spent 2 days in the hospital, with my new daughter by my side and then went home to start our family.

So 2 years later when I found out I was pregnant again, I didn't even think twice about not having testing done.  I was still young, 28 years old, and had had a wonderful first pregnancy, still in good health, and the bottom line was for me, I'm having this baby, my baby, and there is nothing any test can tell me to change my mind of that.  So I went through this pregnancy, with no major problems, but this time around my body definitely felt different.  I was more uncomfortable this time around, but I was working more and I already had a toddler under my feet 24/7.  I also seemed a lot bigger sooner than the first time and ended up going into labor 6 weeks early, which scared me to death!  I delivered my second baby girl, with no real problems.  I got to hold her for a few minutes then shortly after she was taken to the nursery, or so I thought, she actually was taken to the NICU, I was soon informed that the neonatologist suspected that our baby girl had Down syndrome and she also had a blockage where her stomach and her intestines meet.  We spent one night at the delivery hospital, Sophia was not at my side like Jayden was.  She was in the NICU, where I only got to hold her once, then the next day she was taken to Riley Children's Hospital via ambulance and had her first surgery on day 2.  Which is when we also found out about her heart defect and spent the next month in the hospital dealing with post surgery stuff, oxygen, jaundice, feeding tubes, sleep apnea and on and on and on........

There are two types of procedures available to pregnant women: screening tests and diagnostic tests.  The screening tests estimate the risk of the baby having Down syndrome.  Diagnostic tests tell whether or not the baby actually has Down syndrome.  At this time the most commonly used screening test is "The Triple Screen."  This is a combination of  three tests that measure quantities of various substances in the blood.  These tests are usually done between 15 and 20 weeks of gestation.  Sonograms (ultrasounds) are usually performed in conjunction with other screenings.  These can show some physical traits that are helpful in calculating the risk of Down syndrome.  Screening tests do not accurately confirm the diagnosis of Down syndrome.  In fact, false positives and false negatives frequently occur.

There are also three diagnostic tests that are currently available: amniocentesis is performed between 12 and 20 weeks gestation.  During this procedure, a thin needle  is inserted through the abdominal wall and a small sample of amniotic fluid is taken.  The sample is analyzed for chromosomal anomalies.  Chorionic Villus Sampling (CVS) is conducted between 8 and 12 weeks.  It involves the collection of chorionic villus cell sample from the placenta either through insertion of a needle in the abdominal wall or through a catheter in the vagina.  The chromosomes in the CVS are analyzed for deviations.  And Percutaneous Umbilical Blood Sampling (PUBS) is performed after 20 weeks.  For PUB sampling, fetal blood is taken from the umbilical cord using a needle inserted through the abdominal wall.  The blood sample is examined  for chromosome abnormalities.  All three of the diagnostic tests are invasive tests which carry a risk of miscarriage. 

But now, a new maternal blood test has the potential to reduce the number of women referred for invasive testing for Down syndrome by 98%.  Maternal blood tests have only been able to detect homrone markers that may show an increased risk for Down syndrome, but now they know that the entire fetal genome is present in the mother's blood.  With new sequencing technology, scientists can analyze millions of DNA fragments from each blood sample, looking for abnormalities of chromosome 21.

So what all of this means is that in the very near future, you  will be able to go to your OBGYN and  have a simple, non-invasive, blood test done and find out if your baby that you are carring has Down syndrome or not, with the success rate of this testing to be very accurate.  Honestly, I'm not sure how I feel  about this.  I'm all for being prepared.  I typically hate surprises and like to be in control and one step ahead of what is happening around me.  BUT, this test could possible sway more women to terminate their pregnancy based on a positive test result for Down syndrome, since this testing can be done early on in the pregnancy and the results should be as accurate as getting an invasive test done, like the amniocentesis.  I think that the word "Down syndrome" still has such a negative  impact on a lot of people.  It's a scary word for a lot of soon to be parents to hear.  And when you know nothing about Down syndrome or anyone who sports that rockin' extra chromosome, I know that a lot of people could make a fast decison to just "get rid of their baby."  The truth is, for me at least, Down syndrome has absolutely changed my life, for the better.  Sophia is my baby girl with or without that extra chromosome.  She is going to grow and thrive and do wonderful things with her life and influence the lives of so many around her.  She is a rockstar and one extra chromosome doesn't change that one bit!  Do I wish now that I would have had some  pre-natal testing done?  Absolutely not.  If I did the non-invasive Triple Screening and I got a positive result, I would have worried myself an ulcer before I ever gave birth.  The unknown and the "what ifs" are always scary.  Adoption, which I am 100% for, was not a road I was even considering at this point in my life.  I wanted a family.  And abortion, is not even something I would ever consider, I am pro-life.  Finding out if my baby had Down syndrome or not would not be worth the risk of losing my baby, with or without that extra chromosome, due to invasive testing.  And now that I have a beautiful, wonderful, perfect daughter that does rock that something special, I know even more now that one extra chromosome, is not worth killing your baby over.  Down syndrome is beautiful and I have proof of that!   


  1. you DO have proof! Love those photos, toooo cute!

  2. your Lily is proof too :) Our kids are amazingly beautiful, aren't they?!?!?!