A previous email from Jared:
Up to this point we thought we had a healthy third addition to our family after all of the miscarriages we have been through. Becky went in for blood work last week and on Monday the Dr. called and said we had "markers" for Trisomy 18, which is a chromosome abnormality. Trisomy 21 is Down's syndrome for some comparison. Unlike Trisomy 21, 18 is fatal. The infants usually survive until delivery but die within the first few weeks to months. Miscarriages and stillborns can occur also. We went to the maternal specialist today and had another sonogram. The Dr. identified 2 markers (kidneys and brain cysts) which raise suspicions or Trisomy 18. Basically, the baby gets an 18 chromosome from both parents, but the abnormality is when the baby has 3 (Tri) 18 chromosomes. Needless to say, we are devastated. The sonogram is not conclusive at 14 weeks, so they drew some blood from Becky and are sending it to California for chromosomal mapping which will compare Becky's DNA to the baby's DNA and identify whether or not the extra chromosome is present.
They use several different markers and come up with a "risk" factor. Ours was a 1 in 27 chance (97%) that the baby was fine based on blood work and before the songram. Now, we just aren't sure what the odds are. To me, it's 50/50 since the baby either has the abnormality or doesn't. The blood test takes 1-2 weeks and has a 99% accuracy. So the results will basically tell us whether our baby will live or die. Becky is 14 weeks and the baby looks completely normal on the sono other than the 2 markers.
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