Should we do amniocentesis to rule out downs syndrome or heart diseases?

Question

Hi doctor,

My wife has a blood pressure of 100/80 mm of Hg and weighs 61.9 kg. She is 16 weeks and four days pregnant with a second baby. Our first child is 8 years old girl and had a normal delivery. During the ultrasound, the echogenic focus was seen in the left ventricle. Is there any risk of down syndrome and heart disease? We are waiting for the quadruple marker test report. Kindly advise if any other test or amniocentesis is to be done further. There is no history of down syndrome and heart disease on my parent's side as well as her parent's side. However, my father suffers from high blood pressure. Please find the prescription and test report date-wise.

Answer 1

Hi,

Welcome to icliniq.com.

I understand your concern.

In approximately one out of every 20 to 30 pregnancies, an echogenic focus is seen in a second-trimester ultrasound. These are bright spots in the heart and could be one or multiple. However, it is primarily due to calcium deposits in the papillary muscles of the heart. Therefore, it is essential to understand that it does not affect the functioning of the heart per se.

In most cases, infants with intracardiac foci will be born healthy with no issues. However, in some cases, there are chances of a chromosomal abnormality (t21) in the baby. However, do not panic. The next thing you need to do is a non-invasive prenatal testing (NIPT) test, a mother's blood test where fetal cells are examined for any chromosomal abnormalities. It is susceptible (more than 98 %) to trisomy 21 or down syndrome. If the NIPT results are abnormal, then the next step is amniocentesis. In amniocentesis, the fluid inside the uterus surrounding the baby will be taken and tested for chromosomal abnormalities. It's more specific and accurate.

Also, detailed ultrasound at 19 to 20 weeks (anomaly scan) is performed to look for signs of chromosomal mutations in the developing fetus. When in ultrasound, it is seen in isolation in normal pregnancy; it is considered a benign variant, and state karyotyping is unwarranted in the mid-trimester fetus with an incidental finding of fetal heart echogenic focus. Also, do a fetal cardiac echo at 24 weeks to examine the core.