Genetics Counseling: Information Overload

The genetics counselor was a rare, and much-appreciated combination of knowledgeable, articulate, compassionate, and patient.  Here’s the skinny (as much as I can make it) of what we learned:

There are a large number of genetic conditions that could cause a cystic hygroma and hydrops, most of them involving problems with the heart.  Probably the most likely is Noonan’s Syndrome, which is a close cousin to Turner’s Syndrome.  DeGeorge Syndrome is another, though less likely possible culprit.  Hundreds of these possible conditions are detectable with a Chromosomal Microarray Analysis (CMA) using our CVS sample.  Noonan’s is not one of them.  Noonan’s requires a separate test that is only performed at two labs in the U.S, neither of which is in Texas. 

Our options were:

A.    Do nothing, and if the baby survives to birth, treat individual symptoms of the overall problem and start testing for genetic problems then. 

B.    Have the CMA done at Baylor College of Medicine

C.    Have part of our CVS sample cultured and sent to Northwestern in Chicago to test for Noonan’s.

D.    Both B and C. 

The genetic counselor’s answer to one question made our decision pretty easy.  I asked, “Would knowing now what condition is responsible for her problems, give our baby even the slightest advantage when she is born?”  The answer was yes, so we ordered the whole menu. 

I tried to pry some likelihoods about our baby’s survival out of the counselor, but she really couldn’t give any numbers.  What she did do, which helped on so many levels, was outline what would have to happen, stage by stage, for the baby to have a “good” outcome.  This gave us some much needed structure in the midst of a lot of chaos, and specifics things for which we (and you, if you are willing) can pray week by week.

Week 12-15: The hydrops (the biggest threat) needs to resolve.  The fluid needs to somehow get reabsorbed from around our baby’s organs and under her skin. 

Week 12-20 – The cystic hygroma needs to shrink.  A lot.  The measurement is currently 6.7 mm. 

Week 18-20 – We need to have a fetal echocardiogram that does not detect any cardiac problems

Every week – There need to not be any NEW problems. 

The tests were ordered. The results for the CMA should be back in 3-4 weeks and the Noonan’s test in 5-6 weeks.  I’m beginning to understand one of the themes of this journey: “Hurry Up and Wait!”