High Risk Prenatal Care

This post talks about our odds of having another baby with a chromosome disorder and the process of high risk prenatal care.

So what are the odds that we will have another baby with 4Q deletion syndrome?  Our risk of having another baby with Joshua's same deletion is unknown (kind of) - Kenny and I have not been genetically tested, so we don't know if Joshua's disorder was inherited.  If one of us carries the same deletion, then our likelihood of passing it on with every child is 50%.  If the disorder was new with Joshua, then the chances of new baby having the deletion are the same as anyone else - so 1 in 100,000 of having a deletion on the 4th chromosome (and to get Joshua's exact deletion, probably more like 1 in 100,000,000+).  But we also have good reason to believe that the deletion was a new genetic variant in Joshua and not inherited - this is true for 86% of people with his deletion, and we have no family history on either side of the type of medical or developmental issues you typically see with a 4Q deletion.  So it's much more likely than not that the deletion was new in Joshua rather than inherited from us, and if that's true, then our other children are not at an elevated risk to have this extremely rare chromosome condition.

Now, the prenatal care -- because I am "advanced maternal age" (but still occasionally get carded when buying alcohol, so don't cry for me Argentina) and have a history of baby with chromosome disorder, my pregnancy is considered high risk.  (Thankfully, my health through pregnancy and L&D has historically been low risk and healthy, and all signs point to this pregnancy going the same way.)  When you have risk factors, you see a doctor called a maternal fetal specialist in addition to your regular OB-Gyn.  In the first trimester, the specialist talks to you about your odds of various disorders (and gives lots and lots of details about what those disorders entail) and then they offer a wide range of testing.  It's amazing where genetic testing is at these days.  If we chose to do an amniocentesis, they could do a full micro-array on a 12 week old fetus.  Even with non-invasive blood testing of the mother, they can gather a lot of information about the fetus's DNA based on the how it's interacting with the mother's DNA.

Putting aside the technology-is-amazing aspect, the testing conversation is a difficult one for me because I understand the doctor's urge for early testing is partly because they want to give you time to "exercise options" if you do have a baby with a chromosome disorder (not that all, or even most, people are thinking that way when they choose to do testing - I know planning ahead can be extremely useful).  (Also, I don't want to start an abortion debate in the comments section - I'm just expressing my feelings about my personal situation.)  When you've already got a living, breathing child with a chromosome disorder, it's hard not to then take the implication a step further and wonder what they would have advised if they saw in my first pregnancy that I was carrying a child with a fairly large deletion and a series of birth defects.  And how this focus on the defects ignores everything else that the child will turn out to be, and the joy that he will bring to his family and the world.  And it makes me feel angry and sad at the devaluing of what I know, from firsthand experience, is a beautiful, wonderful life.  So that's the first trimester.

In the second and third trimesters, they do several ultrasounds with their high tech machines (i believe the ultrasounds are 4D?) and watch for specific problems where the baby has the highest risk.  For 4Q deletion syndrome, they will be watching mainly for heart problems and craniofacial problems.  This is helpful - exactly the kind of information that I want to have from the experts who are in the best position to gather it.  But this is also terrifying - instead of enjoying the moment where you get first glimpses at your new baby, you're holding your breath, hoping they're not about to announce a defect in an organ system that will mean major surgery or incompatibility with life.

Also, what we found in my pregnancy with Zoey is that, if you're looking for a problem, you're much more likely to spot one.  With that pregnancy, the doctors were looking for a recessed jaw, and they went back and forth in 6 different ultrasounds on whether she had a recessed jaw or not (with some dabbling in low birth weight and low amniotic fluid - nothing major, but while we're looking for problems....).  It turned out that she was born perfectly healthy, but we were nervous wrecks for the last half of the pregnancy and the best that the doctor could tell us was "maybe there's a problem, maybe not".  Nevertheless, it was good to know that doctor was watching and ready, should a problem arise.

That's the process for prenatal care if there is a possibility that the baby is high risk, but otherwise the pregnancy is low risk.  I would be interested to hear other's experiences with maternal fetal specialists, especially in the case where the main thing they're watching is the health of the baby.  We are hitting the 20 week mark and the first set of ultrasounds this month, so would appreciate prayers for 1) a healthy baby and 2) peace throughout the process.