With the introduction of advanced screening tests during pregnancy, parents are now able to learn much earlier if their unborn child is at risk of being diagnosed with a genetic condition. One test in particular is becoming popular in Australia and overseas as a simple blood test after the 10th week of pregnancy where the unborn babies DNA is taken and analysed from within it’s Mother’s blood.
The turnaround time for this test is generally anywhere between 10 – 14 days as in Australia the blood is sent to the United States for testing and analysis. The results of these type of screening tests can help parents make a decision about undergoing further more invasive and higher risk testing, they should never be used on their own to make a diagnosis of a genetic condition.
This is certainly the case for Stacie Chapman and her husband Lincoln who fell pregnant when Stacie was 41 years old. As they had suffered miscarriages in the past, Stacie and Lincoln were nervously excited, hoping for a healthy pregnancy. During her first trimester, Stacie underwent a blood test to analyse their unborn child’s DNA to determine their risk of a genetic condition. Two weeks later when Stacie and Lincoln received a call that their results were back, they were shocked to hear their test had come back positive for Trisomy 18 which is also known as Edward’s Syndrome.
Of the experience of being told the test results, Stacie says her Doctor “explained to me what that was, and how horrific it is, and how it’s not compatible with life… and that most likely would be a stillborn if the baby did survive to full term. It would survive maybe hours, maybe days, she said. It was a very small percentage of children with this who live to their first birthday.”
Both Stacie and Lincoln were understandably devastated and did not want their baby to suffer. They made the agonising decision to make an appointment to terminate the pregnancy the following day, however their Doctor called them later that night and suggested they should wait and undergo an amniocentesis as the blood test was relatively new and there was always the possibly it could be wrong.
Over the next eight weeks they nervously waited, Stacie convincing herself that her child would not survive. At 20 weeks, Stacie underwent an amniocentesis which is a diagnostic test which analyses a sample of fluid from the amniotic sack, the results were conclusive and showed their baby was healthy.
The manufacturer of the DNA blood test Stacie underwent early in her pregnancy stated that for high risk women a positive result for Edward’s Syndrome is right 97.6% of the time.
Thankfully for the Chapman’s they waited until they had a definitive diagnosis rather than simply relying on the ‘probability’ that their child had a severe genetic condition before making the heart wrenching decision to end their pregnancy.
Have you undergone a screening test during your pregnancy?
