Pylectasis

The sonographer grabbed me in the hallway to tell me about the patient of mine she just scanned. The ducts in the kidneys looked a little dilated- upper limits of normal. She wasn’t sure if it was a real issue or not, but wanted to talk to me about it. “let’s send her for a level II,” I said, referring to an ultrasound over with the Maternal Fetal Medicine Specialists. “They’ll be able to tell.”

I popped in to see the patient quickly, just to tell her my plan. I wasn’t too fazed, because my sonographer wasn’t too fazed. And I told the patient just so. “Just to be safe, we’ll have them check it out.”

The next week I received the ultrasound report in my inbasket. “Bilateral pylectasis” it read. Water on the kidneys. The sonographer’s intuition was right. I was glad we had sent her for the follow up scan. She would need follow up ultrasounds in pregnancy to see what happens with the kidneys- sometimes the water goes away and there is no issue, sometimes it persists and the baby will need follow up with urology.

Not long after I saw the report, I got a phone call from the patient. She was upset.

“They really pushed me to get genetic testing!” she exclaimed. When I had offered her genetic screening for the common trisomies, like Down Syndrome, she had declined earlier in pregnancy. It wouldn’t change her management; she would have the baby regardless, she told me. But with the new news about the kidneys, the doctor had tried to explain that there can be an association with pylectasis and Down Syndrome. She ultimately decided to do non invasive genetic screen- cell free fetal DNA, which is an accurate blood test on the mom, that looks for fetal DNA in her blood. It tests that DNA for trisomies like Down Syndrome. It’s highly accurate.

At first I thought she was upset because she ultimately didn’t want genetic testing. “We can cancel the test,” I told her. But no, that wasn’t her issue.

She was upset because they told her that her baby could have Down Syndrome. She wasn’t even upset about the potential diagnosis, she was more upset at the presentation of it. From what I could interpret, she thought they were being so negative, when chances were, things would be fine.

We talked about how the doctors over there at Maternal Fetal Medicine are used to giving bad news- because they have to do it so often. That can affect their presentation. And it’s there job to tell every possible outcome based on what they find.

“If my baby has Down Syndrome, fine. I’ll deal with it. But don’t just jump to conclusions,” she vented about her experience there.

Ultimately she wanted to vent. And also hear that her baby might not have Down Syndrome. She rather remain optimistic until proven otherwise.

It was a strange conversation for me- one about Down Syndrome, but also not about Down Syndrome. She knows I had a baby that died, but I don’t think she knows that she had Down Syndrome. Out conversation could have sparked all sorts of feelings- a baby with kidney issue, possible chromosome issue- but surprisingly, it didn’t.

Is this progress?

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