Expert: Catherine Beier MS CBE - 5/16/2009

Question
Hi,
I am currently 20 weeks, 6 days pregnant with my 3rd child--I have two sons, 5 and almost 3, and this is our first daughter.
At my 20-week sonogram this past week, the doctor found a few abnormalities. One is that one of the baby's kidneys is dilated (5 1/2 mm), and the other abnormality is a small growth on the baby's heart.
She referred me to a perinatologist, who I will be seeing next week. I'm wondering what I can expect at this appointment and what my best line of questioning might be. I know that the heart issue could be an indicator for chromosomal abnormalities, but I don't have much of a knowledge base there beyond Down Syndrome. Should I expect a 3-D sonogram at the first appointment?
Do you have knowledge of how common/uncommon these issues are in fetuses? Thanks so much for any help/insight you may have. I'm used to sickness-free, problem-free pregnancies, so this is all new to me.
This baby does move A TON, though, so I take that as a comfort.

~L

Answer
Laura,


Every doctor's office handles things a little bit differently than the next, so I think the best course of action on knowing what to expect at that first appointment would be to call the office and ask to speak to a nurse.  You can ask her what a typical first appointment entails, whether to expect an ultrasound, what you need to bring, if anything, and any other such questions.



Your best line of questioning should focus first on what diagnosis options are available to find out exactly what is going on with your daughter.  Ultrasound, blood work, fetal echocardiography, contrast radiography, amniocentesis and other such procedures may all be options - you'll want to discuss these with your perinatologist to see which ones may be appropriate in your case and the risks/benefits of each.  You'll also want to know which options give the most accurate information as to the true status of your daughter's development.


Then, once appropriate diagnose(s) have been made, you can talk about what treatment options are available and the risks/benefits of those, the time frame for treatment, lasting complications, if any, and the severity of the issues.


In terms of fetal heart problems, only about 0.4%-1.1% of live births experience them.  Kidney problems occur in about 0.4% of live births.  But, more cases are referred through ultrasound than are actually found to have issues.  It's estimated that between 20-50% of all abnormalities found in traditional ultrasounds turn out to be false alarms or benign conditions, so it's really impossible to say at this point what is going on for certain with your daughter.  You'll need more accurate assessments to determine what true issues exist and the appropriate course(s) of treatment.


Best,
Catherine