Level 2 Ultrasound

[Jackie]

My niece just had her level 2.....the only marker they found was some sort of briteness in the heart...which has nothing at all to do with heart problems. He said it IS a DS marker (one of 50)...the only he was able to see. It is too far along to check neck folds...and apparently not quite far enough along to check others.

As expected he was totally middle of the road with no advice. He did say her level of the triple screen test indicates a 1 in 47 chance. With this marker her risk factor increases by 40-50% altho he tried to explain it doesnt mean now her chance is one in 23...I dont understand statistics and how odds increase.

He spoke of amnio. Told her that there was a 1 in 200 chance of problems...those mostly being infection or rupture of membranes...that it didnt hurt...just a little cramp. He then said there were three groups of people when it comes to amnio.

Those who just want to find out for sure.
Those who want to find out to terminate.
Those who dont want amnio at all.

My niece has chosen to be in the group who doesnt want it at all.

Of course my sister is now worried that they will all worry themselves sick for the next five months...she wishes they had found out for sure.

So I guess we are really back to square one....sitting again and waiting....because as I said...it is either a boy or a girl (think the doc was able to tell but they still dont want to know)...and it either has or doesnt have DS. No tests are really going to change these things.

Jackie mom to Emily 24

[wrblack]

Hi, Jackie,
Somebody over on the old Down-syn list had asked about EIF (echogenic intracardiac focus) not too long ago. Their situation was a bit different. Their little boy was born with Ds but otherwise pretty darn healthy, and nobody ever mentioned the EIF again and they wanted to know if it were something they should be worried about, following up on. I posted this:
<<Maybe the reason no one has responded to your query is that everyone else knows as little as I do about echogenic foci. So, I searched and found these bits:

<<1: Ultrasound Obstet Gynecol. 2003 Apr;21(4):354-8. Related Articles, Links


Relationship of isolated fetal intracardiac echogenic focus to trisomy 21 at the mid-trimester sonogram in women younger than 35 years.

Anderson N, Jyoti R.

Department of Radiology, Canterbury District Health Board, Christchurch, New Zealand. [e-mail]

OBJECTIVE: To determine whether an isolated echogenic intracardiac focus in the fetal heart in the mid-trimester (16-24 weeks) in women aged 18-34 years of age is associated with trisomy 21. METHOD: This was a prospective population-based observational study. A search of all obstetric sonograms performed in our region from January 1997 to December 1999 was carried out. From 12,373 pregnancies we identified 267 cases of echogenic foci in the fetal heart. Trisomy 21 was detected in 38 deliveries (0.31%). An echogenic focus was seen in 193 of the 9167 women < 35 years of age who had an obstetric sonogram at 16-24 weeks' gestation, and an echogenic focus was seen in 67 of the 1968 women > 35 years. The study group comprised the 149 women aged 18-34 years who had an echogenic focus in the fetal heart as the only abnormality at an obstetric sonogram performed at 16-24 weeks' gestation. RESULTS: There were no abnormal outcomes or cases of trisomy 21 among the 149 pregnancies with an echogenic focus as an isolated finding in women aged 18-34 years (0% (95% confidence interval, 0.00-2.43)). The prevalence of isolated echogenic focus was 1.6% for women < 35 and 1.8% for women >or= 35 years old. Of the 25 fetuses with trisomy 21 undergoing an obstetric sonogram at any gestational age, five (20%) had an echogenic focus. An isolated echogenic focus was present in one fetus with trisomy 21 seen at 26 weeks' gestation in a 17-year-old mother. Echogenic foci were single and in the left ventricle in 84.7% of cases. CONCLUSION: An isolated echogenic focus in the fetal heart at mid-trimester ultrasound in women aged 18-34 years is not associated with increased risk for trisomy 21. Copyright 2003 ISUOG. Published by John Wiley & Sons, Ltd.

PMID: 12704743 [PubMed - indexed for MEDLINE]

Left ventricular echogenic focus in the fetal heart: pathologic correlation.

Brown DL, Roberts DJ, Miller WA.

Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115.

Echogenic foci within the left ventricle of the heart have been found in a minority of fetuses and generally are believed to be a normal variant. The cause and exact location of these foci have remained speculative, however. We identified three fetuses with this sonographic finding in whom pathologic correlation was available. The only consistent histologic finding present in all three fetuses was mineralization within a papillary muscle; the chordae tendineae were normal. One of the three fetuses had trisomy 21. 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.

PMID: 7933029 [PubMed - indexed for MEDLINE]


www.obfocus.com/SanGabriel/guidelines/Newsletter/SGVPNEWS10-EIF.PDF >>

Now I think maybe I know ever less. I believe a single echogenic focus in the left ventricle is a "soft" marker for Ds. I'm also getting the impression that such a marker has no further significance, doesn't mean that there is a heart problem. Also have impression that this ultrasound finding often disappears prenatally, antenatally, perinatally or by 5 years old.
I didn't see anything about this soft marker being an indicator for heart defects but also didn't see anything about this marker ruling out defects; think it's pretty neutral, uninformative about the health of the heart.
I would hope Gus has been checked out for any heart problems, as should all kids with Ds. So, I think the only significance is that Gus is one of the kids who had this soft marker for Ds. But please feel free to check with a medical professional on this. I just thought I'd respond because nobody else had, operating on, in this case, the false idea that any response would be better than none. -- Bob>>
Normally, I'd say if all an expectant mom had was one soft marker, and particularly this soft marker, then chances of Ds are rather slim. But, if your niece has this soft marker and a triple screen or afp value indicating greater chance of Ds, that could be added weight to consider amnio.
But maybe a better question for your niece in this situation would have been, so, was that a boy EIF or a girl EIF?
All the best to you and yours,
Bob

[momofrussell]

Hey Jackie, you mentioned it was too far along to check neck folds? How far along is she again? After my AFP I had my Level 2 US.. I was probably around what.. 18-22 weeks.. heck, I can't remember.. but they DID see the Nuchal Fold quite well.. AND, I had probably 3 more US's after that, up until I gave birth, and they could see the Nuchal fold each time.

so I was just curious...

A.

[shellk]

Jackie,

I have not advice..Just wanted to wish your niece luck and send prayers to her and her husband.

Michele

[PaigesMom]

Jackie,

I dont know if this information helps or hurts or even if it's worthy of posting for fear of adding to stress - but maybe at the same time helping to prepare if necessary, if that makes any sense at all.

Early in my 5th month of pregnancy during my routine ultrasound the dr.'s picked up an ecogenic foci. I went for a level 2 ultrasound and again they picked it up. At the time no one ever mentioned to me that it was a marker for DS. What they told me was that it was a "pinhole" in the baby's heart that would most likely, spontaneously close before birth. They told me not to worry, not to put another thought into it, but just to make sure I told the labor and delivery nurses in case the pediatrician on call wanted to do an echo on "the baby" - whom we all now know and love as Paige. There were no other markers. The echogenic foci was actually a VSD and a PDA, both of which closed spontaneously in the year after birth.

A long time afterwards, at a follow up appointment, the geneticist told me that she couldn't believe they never told me it the foci was a marker, her guess was that because there were no other markers, combined with my age being only 30 and "normal" AFP testing (I was obviously a false negative) there was no reason to "scare me".

End of story. I guess what I am saying is that dr.'s haven't a clue, I think, most of the time. I admire your niece and wish her the best of luck - I'm sure whatever the outcome, with a support system like you, all of them will be just fine.

Debbie

[christie]

Hmmmmm just have to say I find it interesting that the Doctor that you refer to as a "he" says the Amnio (sp?) won't hurt, just a little cramp, Hmmmm with all due respect HOW the HECK would he know ?? Did he ever have one??

I think your sister can rest at ease if her daughter really was one to worry herself sick for the next 5 months I think she would have opted for the amnio (sp?). Sounds like she will be OK no matter what

Blessing going out to your niece and hoping for the child that they do NOT have DS but if they do, its not the end of the world

CC ~

[donnita]

Thanks for all the info, Bob! I have wondered about that EIF spot before.

In case some of you didn't make it to the end of that article, I think it was saying that 2-3% of babies without Ds (who had an ultrasound) had an EIF and 20% of the babies with Ds (who had an ultrasound) had one. But the 20% really isn't very reliable because in was based on 25 babies, a very small test group. The 2-3% figure does seem reliable to me though, because it was based on 11,135 babies.
It did sound as though that group of doctors was saying that an EIF doesn't increase the chances of Ds for mothers under 35. So I guess they are implying that it does for mothers over 35?

Marissa had what I assume is an EIF at her second ultrasound. My doctor called it a "bright spot" and did say it was not a hole, or any defect, in the heart, but was basically a calcium deposit. He said it was a soft marker for Ds, and it was the only marker Marissa had. I should point out here that Marissa does not have Ds.

And I agree with CC, an amnio feels a lot worse than "a little cramp!"

Donnita

[wrblack]

postscript

<<I find it interesting that the Doctor that you refer to as a "he" says the Amnio (sp?) won't hurt, just a little cramp, Hmmmm with all due respect HOW the HECK would he know ?? Did he ever have one?? >>

-------------------------

<<And I agree with CC, an amnio feels a lot worse than "a little cramp!">>

I haven't had one either. But my wife Lynn said hers hurt less than her least favorite nurse in OB's office taking blood. Think different mommy's have different experiences with amnios.
Still think Dr. Leshin's essay on prenatal testing www.ds-health.com/prenatal.htm is worth reading carefully. Particularly the part that says, "The main usefulness of ultrasound (also called sonography) is to confirm the gestational age of the fetus (it's more accurate than dating from the mother's last menstrual cycle). Another benefit of the ultrasound can also pick up problems of a serious medical nature, such as blockage of the small intestine or heart defects. Knowing these defects exist as early as possible will benefit the treatment of the child after birth. "
As is Dr. Filly's essay, Obstetrical Sonography: The Best Way to Terrify a Pregnant Woman www.choroidplexuscyst.org/filly.html , which says, "These Down syndrome markers are common findings in normal fetuses, particularly the echogenic intracardiac focus (EIF). EIF occurs in approximately 5% (it is probably closer to 10%) of fetuses (53). The choroid plexus cyst occurs in 1-2% of fetuses (3), echogenic bowel occurs in approximately 1% of all second-trimester fetuses (44) (many more if high frequency transducers are employed) and mild pyelectasis in 3% of normal fetuses (54). If you have a busy sonographic practice seeing 10-20 pregnant woman daily, you will most likely see one or the other of these 'abnormalities' every day."
Oh, and most importantly, shame on me for neglecting to say we all hope Jackie's niece has a healthy, happy baby-- boy or girl, with or without an extra 21st chromosome--a healthy, happy baby.
-- Bob

[Alice]

<<I find it interesting that the Doctor that you refer to as a "he" says the Amnio (sp?) won't hurt, just a little cramp, Hmmmm with all due respect HOW the HECK would he know ?? Did he ever have one?? >>
LOL ;D

Bob, you are the best!!!!!!!

[leenina]

I dont know if this information helps or hurts or even if it's worthy of posting for fear of adding to stress - but maybe at the same time helping to prepare if necessary, if that makes any sense at all.

Stress is really hard to overcome by yourself, I personally succeeded thanks to friends and family support. Good friends of mine also recommended me vaping cannabidiol, I just filled CCELL Cartridges and vaped them few times a week for the best effect.