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Echogenic intracardiac focus Implications

Echogenic intracardiac focus Implications

Conclusion: Fetuses with an echogenic intracardiac focus have a significantly increased risk of Down syndrome. Although most fetuses with this finding are normal, patients carrying fetuses with an echogenic intracardiac focus should be counseled about the increased risk of trisomy 21.

How much does EIF increase risk of Down syndrome?

In a recent meta-analysis, Sotiriadis et al. reported that EIF is seen in approximately 2530% of fetuses with Down syndrome, but only 4% of fetuses (95% confidence interval (CI) 28%) with normal karyotypes, resulting in a 57-fold increased risk of Down syndrome11.

What percentage of babies with EIF have Down syndrome?

The results showed existence of EIF in 3.8% of all fetuses. The prevalence of down syndrome among the population studied was 0.4% with all having EIF.

Does EIF always mean Down syndrome?

Could an EIF mean the baby has Down syndrome? Some studies raised concerns about a small risk for Down syndrome with this ultrasound finding. However, most studies do not find a higher risk for Down syndrome when an EIF is the only ultrasound finding.

Is EIF a marker for Down syndrome?

An echogenic intracardial focus (EIF) is an ultrasound soft marker for aneuploidy, most commonly for Down syndrome and trisomy 18. An EIFs are found in about 5% of all fetuses during second trimester sonography. An EIF seems like a small bright spot in the baby’s heart ventricle.

Does echogenic intracardiac focus mean Down syndrome?

Conclusion: Fetuses with an echogenic intracardiac focus have a significantly increased risk of Down syndrome. Although most fetuses with this finding are normal, patients carrying fetuses with an echogenic intracardiac focus should be counseled about the increased risk of trisomy 21.

What are hard 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.

What does calcium on a baby heart mean?

Echogenic intracardiac focus (EIF) is a small bright spot seen in the baby’s heart on an ultrasound exam. This is thought to represent mineralization, or small deposits of calcium, in the muscle of the heart. EIFs are found in about 35% of normal pregnancies and cause no health problems.

What are soft markers for Down 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.

Can EIF go away?

Most EIF seen in the middle of the pregnancy will not go away before delivery. Since they do not cause problems for the baby, additional ultrasounds to follow-up on the EIF are not needed.

Can you see Down syndrome on ultrasound?

An ultrasound can detect fluid at the back of a fetus’s neck, which sometimes indicates Down syndrome. The ultrasound test is called measurement of nuchal translucency. During the first trimester, this combined method results in more effective or comparable detection rates than methods used during the second trimester.

What causes white spot on baby’s heart?

An intracardiac echogenic focus (ICEF) is a bright white spot seen in the baby’s heart during an ultrasound. There can be one or multiple bright spots and they occur when an area of the heart muscle has extra calcium. Calcium is a natural mineral found in the body.

How can you tell a baby has Down syndrome?

Some common physical features of Down syndrome include:
  1. A flattened face, especially the bridge of the nose.
  2. Almond-shaped eyes that slant up.
  3. A short neck.
  4. Small ears.
  5. A tongue that tends to stick out of the mouth.
  6. Tiny white spots on the iris (colored part) of the eye.
  7. Small hands and feet.

What causes fetal heart calcifications?

Chromosomal abnormalities associated with excessive calcium deposits such as trisomy 13 have been associated with myocardial calcifications1. Intrauterine infection with associated myocarditis and cardiac dysfunction can also result in myocardial calcifications2.

Do babies with trisomy 18 move in utero?

Certain findings before birth (prenatally) and during infancy are considered characteristic of trisomy 18. In many patients, there is decreased movement in utero.

Does Down syndrome run in the family?

In almost all cases, Down’s syndrome does not run in families. Your chance of having a baby with Down’s syndrome increases as you get older, but anyone can have a baby with Down’s syndrome.

How accurate is genetic testing for Down syndrome?

Prenatal Genetic Diagnosis and Screening Services offers a screening test for Down syndrome, trisomy 13 and trisomy 18. This new screening test, offered to women with the highest risk for having a child with Down syndrome, is 99 percent accurate in screening for Down syndrome, says Dr. Mennuti.

Are downs babies active in womb?

As for any pregnancy reduced fetal movements are a sign of the fetus being in poor condition and should not be accepted as typical for a baby with Down’s syndrome. Mothers need to be reminded that babies should remain active even during late pregnancy and to report any reduction in fetal movements.

Can Down syndrome be detected in third trimester?

We do not screen for Down syndrome after the second trimester, but invasive testing can be performed in the third trimester if new ultrasound findings that are worrisome are found later in pregnancy.

How can you prevent Down syndrome during pregnancy?

Commit to Healthy Choices to Help Prevent Birth Defects
  1. Plan ahead. Get 400 micrograms (mcg) of folic acid every day. …
  2. Avoid harmful substances. Avoid alcohol at any time during pregnancy. …
  3. Choose a healthy lifestyle. Keep diabetes under control. …
  4. Talk with your healthcare provider.

Is echogenic intracardiac focus Normal?

An echogenic intracardiac focus (EIF) is a relatively common finding, even in otherwise normal fetuses. It is not a structural abnormality and considered a normal variant representing calcified deposits in the muscle of the fetal heart that appear as bright spots on prenatal ultrasound.

Is the baby’s heart rate on the ultrasound picture?

The top part of the image shows placement of a measuring tool on the ultrasound machine called an M-mode through the image of the beating heart. This tool shows movement over time, which is displayed on the bottom part of the image. The image on the bottom shows how the baby’s heart rate is calculated.

Does taking folic acid prevent Down syndrome?

April 17, 2003 — Taking folic acid supplements before and during early pregnancy may not only help prevent neural tube defects in babies, but it may also reduce the risk of Down syndrome.

Can stress cause Down syndrome?

Down syndrome, which arises from a chromosome defect, is likely to have a direct link with the increase in stress levels seen in couples during the time of conception, say Surekha Ramachandran, founder of Down Syndrome Federation of India, who has been studying about the same ever since her daughter was diagnosed with …

What happens if Down syndrome test is positive?

A screen positive result means that you are in a group with an increased likelihood of having a baby with an open neural tube defect. If the result is screen positive, you will be offered an ultrasound examination after 16 weeks of pregnancy, and possibly an amniocentesis.

Does spot on heart mean Down syndrome?

Similar to choroid plexus cysts, this marker might indicate a chromosomal condition if paired with other worries on the ultrasound or an increased risk for Down syndrome or trisomy 13 on a prenatal screen. Again, if it’s an isolated finding, we don’t worry about it.

What can I expect at an 8 week ultrasound?

The head is still nearly the same size as the rest of the body. You’ll also see the gestational sac, the fluid-filled space around your baby(s). Within it, you can also see the yolk sac, which is a bubble-like structure. Depending on the location, you might even get to hear their heartbeat, too.

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