I am 22 weeks pregnant. At 20 weeks I had a Level II ultrasound during which the doctor believed he visualized a VSD. Yesterday, I had a fetal echocardiogram where they did not find VSD, but in which they observed several instances of arrhythmia which the doctor described as an "early beat." I will now have this test weekly until the irregular beat is not present. I am concerned because he said that they couldn't rule out issues with her valves, and also because her Nuchal Translucency test came back high at 4mm. I did have a CVS which showed no genetic anomalies. Should I seek a second opinion? I live in Massachusetts, so could travel to Boston.
There are a few issues here. Early isolated beats, such as premature atrial contractions and premature ventricular contractions, are common during the second trimester. These typically resolve by third trimester or soon after delivery, and do not cause any problems. The only time that there can be problems is if there are sustained abnormally fast or very slow heart rates.
The second issue here is that there was a question regarding problems with the valves. Since you will be returning for follow-up fetal echocardiography, the fetal cardiologist should be able to assess the valves adequately and tell you whether the valves appear normal.
The third issue is her nuchal translucency and her genetic status in relation to her cardiac disease. Nuchal translucency is a test that looks to see how thick the tissue of the neck is on fetal ultrasound, usually during the first trimester. It has been classically associated with Trisomy-21 (Down syndrome). However, the chorionic villus sampling (CVS) which you underwent ruled that out. That said, a normal CVS does not rule out other genetic abnormalities that can be associated with cardiac disease. The most common one is Noonan syndrome. As well, it can be associated with isolated cardiac defects without specific genetic syndromes. These can include tetralogy of Fallot, hypoplastic left heart syndrome, transposition of the great arteries, aortic valve stenosis, aortic coarctation, and defects of the atrial and ventricular septum. The majority of these defects sound as if they probably have already been ruled out by the fetal echocardiogram. Again, at this point, your fetal cardiologist should be able to discuss these findings with you. If you feel that you are not getting sufficient answers to your questions, you should consider a second opinion.
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