Is EIF linked to Down syndrome?

Is EIF linked to Down syndrome?

In a recent meta-analysis, Sotiriadis et al. reported that EIF is seen in approximately 25–30% of fetuses with Down syndrome, but only 4% of fetuses (95% confidence interval (CI) 2–8%) with normal karyotypes, resulting in a 5–7-fold increased risk of Down syndrome11.

How much does EIF increase risk of Down syndrome?

In the setting of an isolated EIF in low-risk pa- tients under the age of 35 years, the current evidence supports the use of a positive LR between 1.5 and 2.0 at most. Thus, a patient with a baseline risk of Down syn- drome of 1 in 1000 should be quoted a risk of between 1 in 667 to 1 in 500.

What are the major markers for Down syndrome?

Increased nuchal fold (P < 0.001) and structural malformation (P < 0.001) were the markers most associated with Down syndrome. The presence of one marker increased the relative risk 10.5-fold, while the presence of two or more markers increased the risk 13.5-fold.

Should I worry about echogenic focus?

But echogenic intracardiac focus (EIF) is almost never something to worry about. It shows up as a bright spot on the heart in imaging, and it’s thought to be a microcalcification on the heart muscle. EIF occurs in as many as 5 percent of all pregnancies.

What causes echogenic focus left ventricle?

Echogenic foci within the left ventricle of the fetal heart represent papillary muscle mineralization. Until more data are available to investigate any possible association with aneuploidy, an echogenic focus in the left ventricle should still be considered a normal variant.

What are soft signs of Down’s syndrome?

The most commonly studied soft markers of aneuploidy include a thickened nuchal fold, long bones shortening, mild fetal pyelectasis, echogenic bowel, echogenic intracardiac focus, FMF angle > 90 degrees, pathologic velocity of Ductus venosus and choroid plexus cyst.

What are signs of Down syndrome during pregnancy?

Some common physical signs of Down syndrome include:

  • Flat face with an upward slant to the eyes.
  • Short neck.
  • Abnormally shaped or small ears.
  • Protruding tongue.
  • Small head.
  • Deep crease in the palm of the hand with relatively short fingers.
  • White spots in the iris of the eye.

What are signs of Down syndrome in ultrasound?

Certain features detected during a second trimester ultrasound exam are potential markers for Down’s syndrome, and they include dilated brain ventricles, absent or small nose bone, increased thickness of the back of the neck, an abnormal artery to the upper extremities, bright spots in the heart, ‘bright’ bowels, mild …

How serious is an echogenic focus found in heart?

An echogenic focus on its own poses no health risk to the fetus, and when the baby is born, there are no risks to their health or cardiac functioning as a result of an EIF. It is considered a variation of normal heart anatomy and is not associated with any short- or long-term health problems.

How common is echogenic intracardiac focus in left ventricle?

EIF are most often seen in the left ventricle (94%) and are usually single. They usually measure 1 to 4 mm in size.