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Genetics (Expert Forum)
mild hydronephrosis at 34 wks, echogenic intracardiac focus
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
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mild hydronephrosis at 34 wks, echogenic intracardiac focus
by my2girls2007, Sep 18, 2007 10:19AM
I am currently 35wks3days pregnant and just had my 35th birthday a month ago. This is our second pregnancy, the first resulting in a beautiful healthy girl who is now 27 months old (after 6 years of idiopathic infertility and no ART!).
We had a normal ultrasound at 10 weeks. At 19 weeks there was an isolated echogenic focus on the left ventricle but no other abnormal finding. My triple screen came back at 1:4910 for Trisomy 21 so my doctor was not worried (of course we were and still are, but after 6 years of infertility we are not willing to risk a procedure-related miscarriage from amniocentesis). I had a follow-up scan at 24 weeks where the focus was still visible and the placenta appeared to be somewhat low-lying, but otherwise things looked normal and healthy. I had a further scan at 34 weeks to make sure the placenta was not low-lying (and it's not), but now the left kidney appears to have mild hydronephrosis (measures at 6 mm). The echogenic focus is no longer visible, although I understand that persistence or lack thereof doesn't really mean anything in terms of prognosis. Amniotic fluid level has always been normal. Incidentally, we also had a 3D ultrasound at 28 weeks, and the sex was determined (another beautiful girl!).
My question is, is this considered a second soft marker for Trisomy 21 being that the hydronephrosis was not present in any of the scans, except for the most recent one at 34 weeks, or again a normal variant that has a weak association with Downs Syndrome? Thanks in advance for any input you might have!
We had a normal ultrasound at 10 weeks. At 19 weeks there was an isolated echogenic focus on the left ventricle but no other abnormal finding. My triple screen came back at 1:4910 for Trisomy 21 so my doctor was not worried (of course we were and still are, but after 6 years of infertility we are not willing to risk a procedure-related miscarriage from amniocentesis). I had a follow-up scan at 24 weeks where the focus was still visible and the placenta appeared to be somewhat low-lying, but otherwise things looked normal and healthy. I had a further scan at 34 weeks to make sure the placenta was not low-lying (and it's not), but now the left kidney appears to have mild hydronephrosis (measures at 6 mm). The echogenic focus is no longer visible, although I understand that persistence or lack thereof doesn't really mean anything in terms of prognosis. Amniotic fluid level has always been normal. Incidentally, we also had a 3D ultrasound at 28 weeks, and the sex was determined (another beautiful girl!).
My question is, is this considered a second soft marker for Trisomy 21 being that the hydronephrosis was not present in any of the scans, except for the most recent one at 34 weeks, or again a normal variant that has a weak association with Downs Syndrome? Thanks in advance for any input you might have!
Doctor's Answer
by Lisa Kessler, MS, CGC, Sep 18, 2007 06:18PM
, Sep 18, 2007 06:18PM
Congratulations on your second beautiful girl!
It is a dilemma for healthcare providers to interpret “soft” (meaning having only a mild-to moderate association with a real problem) findings on ultrasound, and to combine various risk factors together. It is particularly difficult to combine risk factors together when the findings appear at different times in fetal development. At this time there is no easy way to calculate out a risk for Down syndrome, or determine if the echogenic foci in the heart is at all related to the hydronephrosis, so I can’t completely answer your question. I can say, however, that you have many positive things in your favor from your “normal” maternal serum screening tests to the lack of more significant ultrasound findings. Having mild fetal hydronephrosis (enlargement of the kidney) on one side is not uncommon and is found in 1-3% of all prenatal ultrasounds. The vast majority of cases end up being normal variants that don’t require any intervention.
It is a dilemma for healthcare providers to interpret “soft” (meaning having only a mild-to moderate association with a real problem) findings on ultrasound, and to combine various risk factors together. It is particularly difficult to combine risk factors together when the findings appear at different times in fetal development. At this time there is no easy way to calculate out a risk for Down syndrome, or determine if the echogenic foci in the heart is at all related to the hydronephrosis, so I can’t completely answer your question. I can say, however, that you have many positive things in your favor from your “normal” maternal serum screening tests to the lack of more significant ultrasound findings. Having mild fetal hydronephrosis (enlargement of the kidney) on one side is not uncommon and is found in 1-3% of all prenatal ultrasounds. The vast majority of cases end up being normal variants that don’t require any intervention.
