Day 7: (31 for 21)...Some Facts & Our Story

What is Down Syndrome?

Down syndrome is a genetic condition that causes delays in physical and intellectual development. It occurs in approximately one in every 800 live births. Individuals with Down syndrome have 47 chromosomes instead of the usual 46. It is the most frequently occurring chromosomal disorder. Down syndrome is not related to race, nationality, religion or socioeconomic status. The most important fact to know about individuals with Down syndrome is that they are more like others than they are different. (National Assoc. for Down Syndrome)

Cause

Down syndrome is usually caused by an error in cell division called non disjunction. It is not known why this occurs. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy. It has been known for some time that the incidence of Down syndrome increases with advancing maternal age. However, 80% of children with Down syndrome are born to women under 35 years of age. (National Assoc. for Down Syndrome)

Pre-natal Diagnosis  (National Assoc. for Down Syndrome)

Two types of procedures are 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.
Screening Tests

• 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.

Diagnostic Tests
Three diagnostic tests are currently available:

• Amniocentesis is performed between 12 and 20 weeks gestation.
• Chorionic Villus Sampling (CVS) is conducted between 8 and 12 weeks.
• Percutaneous Umbilical Blood Sampling (PUBS) is performed after 20 weeks. 

Our Story......

Finding out that we were pregnant for the 3rd time came as a big surprise!  A most pleasant surprise!  The boys were so excited to have another sibling (although they thought they were getting a sister).  My pregnancy started off rather well, this was my first pregnancy that I didn't experience morning sickness.  Woo Hoo=)  I guess you could say that I pretty much had an "average" textbook pregnancy.  Aside from very low iron (which was the case with all 3 pregnancies), a gestational diabetes scare and some minor aches & pains from Landon's positioning, everything was going as it should.

I pretty much agreed to have any non-invasive testing done throughout my pregnancy.  I was aware of false positives and such.  I did have to have a level 2 ultrasound and genetic counseling during my second pregnancy for what was thought to be spots on the baby's brain.  It turned out that those spots were gone before the end of my pregnancy.  I remember thinking back then that ultrasounds could be a good thing or a bad thing.  Sometimes, they pick up TOO much and we worry for nothing.  Having been through that in the past, I didn't let that stop me from doing the same the 3rd time around.

Around 5 months into my pregnancy, I received a call from a Dr. who was filling in for my Dr. while she was on vacation.  He was going over the test results from the "Triple Screen Test" and there were elevations.  He started shooting off numbers and statistics that didn't really make any sense to me.  The most I do remember of that conversation was that I was told that I had a 1:3 risk factor (not diagnosis) for Down syndrome and that I was being scheduled for a Level 2 ultrasound and genetic counseling.

By the time I hung up the phone, I was on the computer googling everything and anything on Ds.  My mind was racing and I couldn't think straight.  First of all, I thought I was too young (I was only 35), I thought your risk factor was higher if you were over 40 (not that I was that far away).  I read for hours.  Mostly scary stuff.  Medical terminology.  Statistics.  Then I became defensive.  NO.  I'm too young.  I've been through a level 2 before and everything turned out fine.  I feel fine.

A week later, Scott & I, went to the Level 2 Ultrasound.  The technician was shocked when we told her our risk factor.  There were certain things she was looking for:  shorter limbs, excess fluid behind the neck, spots on the heart and a crooked pinky (all markers for Ds).  That's right folks, Landon had not 1 marker!!  We then ventured over for genetic counseling in which we were given options to more invasive testing to determine whether or not Landon did indeed have Ds.  We declined.  We were not willing to add any more "risks" to our pregnancy, no matter how small.  The bottom line was, we would welcome Landon into this world, however he chose to enter it.  I must confess, as much as I had my guard up and thought positive thoughts (considering there were no markers for Ds), something inside me just knew.

..........to be continued.........