QuestionI am about 20 weeks pregnant and I had an ultra sound done when I was 18 weeks. The doctors found something on the baby's heart in the ultrasound. I am scheduled for a level 2 ultrasound in about 2 weeks. But I was curious, is it really possible to tell if a child will have Down Syndrome just from a supposed deformity on the heart?
AnswerDear Nichole,
This was probably what is called an echogenic area in or near the baby's heart. The echogenic areas many times represent calcifications at malformed areas in the papillary muscles of the heart. This abnormality on ultrasound carries a relative risk of Down syndrome roughly 0-4 times as compared to another woman of similar age.
Counselling, further ultrasonic assessment and amniocentesis should be considered in the presence of such findings. At the same time, the majority of fetuses who are chromosomally normal with an intraventricular echogenic focus (this spot seen in or near the heart) do not have congenital heart disease.
So - you should not panic about it yet. More testing would and should be done to help to determine if there is a strong indication of Down Syndrome. Your doctor should explain any and all findings of all tests which are indicators of this syndrome. If he/she does not, ask plenty of questions - don't be shy! Make sure anything that you wonder about or any doubt you have is answered before you let him out of the room! :-)
I hope this information has helped you and answered your question. I wish you well.
Brenda
