Monday, January 23, 2012

Houston, We Have A Problem

I had my level II, comprehensive ultrasound last week, also known as the 20-week ultrasound. The good news is: my due date is officially June 15! I'm glad I'll have a little extra time before I'm pressured to induce, since my babies don't seem to come out early. Also, maybe now I can start my "pregnancy week-by-week" updates, since I know what my "official" dates are. Also, we're having another baby boy! I've now officially given up hope that our family will ever have the male/female balance I wanted, but we've got some GREAT boys' names lined up.

The bad news is that the doctors seem worried about this little man's kidneys. He has bilateral hydronephrosis/pyelectasis, which means that there is likely some kind of obstruction that is creating a urine back-up (I think that's roughly the gist of it).

In addition to those findings, they found cysts in the choroid plexus (part of the brain). They can be indicative of a systemic chromosomal problem, such as trisomy 18. They also found an intracardiac focus (I think that's what they called it), which is a bright spot in the center of the baby's heart. The heart appears to be structurally and functionally intact, but the intracardiac focus can be a weak indicator of Down's syndrome (trisomy 21).

Because of all these findings, they want to monitor closely (every 2 weeks!), and they also recommended genetic screening and diagnostic testing for chromosomal defects.

GULP. When the doctor came in to tell us the news, my blood sugar was low (surprise, surprise - I was there for a looooong time and had slurped down the only bottle of Gatorade I brought with me well before this moment). She was very kind, and repeated everything about 5 times, which helped me my unable-to-concentrate diabetic self to take it all in. She used different words to describe the problem and put the phrases together in a variety of ways. We asked a TON of questions and I felt like we had a grasp of the facts at least by the time she left the room.

We agreed to do the blood screening test (quad screen). The test only gives us a probability of chromosomal defects (not a diagnosis), and is more likely to turn up a false positive this late in the second trimester. I think its value to us will lie in a negative outcome. If the blood screen is negative, meaning the probability of a chromosomal defect is very, very low, then I think we will all breathe a little easier about this little man's prognosis.

Upon further discussion with the medical director (a different doctor who came in after the first), we had an even better grasp upon the situation. She thought the choroid plexus and intracardiac focus were not anything to be terribly concerned with at the moment. Choroid plexus cysts, she said, often resolve by 24 weeks. She also said that she sees an intracardiac focus with some regularity, absent other findings, but that without other stronger indicators of Down's syndrome (flap on the back of the head, and something about the nose), she thought Down's was unlikely.

My husband thought she indicated that, if a chromosomal defect were present, it was most likely to be trisomy 18. As an example of the difference between my husband and myself, however, I heard the doctor say that she thought it unlikely that there was a chromosomal defect at all (I would drive myself crazy having to emotionally prepare for a stillbirth or death shortly after birth, all to find out that was not the reality of our situation! My husband likes to brace for the worst). She said that, given my age and ability to manage my blood sugars successfully, it was more likely an isolated problem with the kidneys, possibly due to my diabetes.

The problem is bilateral, which makes it a little more serious, and the dilation is bordering on severe, given his age (10 mm on one side, 9.4 mm on the other). The biggest concern with hydronephrosis is that there is an obstruction so severe that the baby cannot pass urine. In that event, we would see poor growth and low amniotic fluid. Fortunately, at this point, growth and amniotic fluid levels are both perfect.

So, as I mentioned, baby and I will be receiving ultrasounds every 2 weeks. They will monitor the baby's growth and amniotic fluid, to be confident that the obstruction is not getting worse or affecting the baby's development. In addition, they will be searching more closely, as the baby gets bigger, for indications of a chromosomal defect. They will, of course, look at the dilation of the kidneys, and the choroid plexus, to see whether the cysts dissipate on their own.

We have talked to many, many friends about this and all sorts of people are coming out of the woodwork, telling us that someone told them their baby's kidneys had a similar problem during one of their prenatal ultrasounds. Every single one of them has also told us that the problem resolved on its own (before or after birth), and no surgery was necessary. We seriously, seriously hope that's the case for us, too.

On the other hand, my husband is probably right to brace for the worst, which I think at this point is trisomy 18. I guess there are other chromosomal defects that could be lethal to the baby, too, which we would only know on amniocentesis. If our blood screen is positive and the ultrasound readings continue to show indicators of a chromosomal defect (worsening cysts in the choroid plexus, or other problems), then we will probably have an amniocentesis late in the third trimester. That's just so we have a little time to know what kind of life we can expect with this little man shortly after his birth. Link
If you do so and think of us, please pray! May God have mercy on all of us.

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