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Dr. K.
Dr. K., MD
Category: OB GYN
Satisfied Customers: 3958
Experience:  Board certified OB/GYN with 20 years of experience.
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My wife is 19 wks pregnant. We recently had a full anatomy

Customer Question

Hello,
My wife is 19 wks pregnant. We recently had a full anatomy scan at 18 wks 6 days and a soft marker (Echogenic Intracardiac Focus) was found. No other soft markers were found and everything else was normal. We also had the Quad Marker Screening, which placed the risk of down syndrome at 1 / 100,000. Finally, we have had the Panorama screening which showed "low risk" for genetic defects such as down syndrome (states less than 1 in 10,000).
Questions:
1.) Does the presence of the one Soft Marker above increase the risk of the baby having down syndrome or any other genetic defects? (eg does the 1 /100,000 risk shown by the Quad Marker screening now INCREASE because of the presence of one soft marker).
2.) Is an Amniocentesis recommended because of the one soft marker above?
Thanks!
Submitted: 1 year ago.
Category: OB GYN
Expert:  Dr. K. replied 1 year ago.

How old is your wife? That factors in to the answer. An isolated echo genie cardiac focus is never a reason for amino. In higher risk pregnancies, over 35 or abnormal screening, an amino should be offered. 3-5 percent of normal fetuses have this finding. Up to 30 percent in Asians. It increases the risk of trisomy 21 2-5 times over the calculated risk. Still very low. But yes it's not 1/100000. Nor is it high enough at all to warrant amino.

Customer: replied 1 year ago.
She is 33 years old...we've had 2 miscarriages in the past year (no normal births yet).....both confirmed as genetic defects.
Customer: replied 1 year ago.
Other than that, I can't think of any other "risk factors"---some early spotting in the very early weeks
Expert:  Dr. K. replied 1 year ago.

The miscarriages with "genetic defects" place her in a high risk group. What were the diagnosis? You should obtain a consult with a maternal fetal medicine specialist to discuss further testing.