|Name: Tracy | Date: Nov 22nd, 2010 2:06 PM
|My son had 2 soft markers throughout my pregnancy- pyelectasis and echo foci on the heart. Glad to report, he was born perfectly fine. ↑|
|Name: senzafaoscem | Date: Nov 23rd, 2010 1:51 AM
|Name: hsterling | Date: Jan 27th, 2011 11:35 AM
|I had my 18 week ultrasound. Up until then, everything measured ok. They had me go back at 20 weeks for another ultrasound. They found 3 soft markers; a CPC, dialated kidneys, and an enlarged nuchal translucency. We were told that cysts and the kidneys can correct themselves before birth and dont necessarily mean shes not healthy. The thicker nuchal translucency could just be nothing but all 3 together raised concern. Im having the amniocentesis done tmrrw so we can kno for sure and prepare accordingly. My family and i are very nervous but neither my family or my fiances has a history of genetic or chromasomal problems. Im 19 and apparently in the lowest risk category for DS. Has anyone else had 3 soft markers and ended up having a healthy baby? ↑|
|Name: Amy B | Date: Feb 4th, 2011 3:05 PM
|At my 20 week ultrasound they found pyelectasis and echogenic bowel. My bloodwork came back fine for ratios as far as Down's etc. I'm 38 and wasn't wanting to do amnio, but I feel like I had to know. I stressed myself sick about amnio, but it was almost painless (don't bother getting lidocaine for numbing as that would have hurt worse), just a weird pressure. It was over in a minute and we were able to watch on the US to make sure baby was ok. I really stressed about amnio and the risks, but ultimately felt like I had to know what to prepare for. Took it easy for a few days and then waited. Got the call this am that all of my amnio tests came back normal (still waiting on cystic fibrosis), so that was a huge relief. I felt so disconnected from the pregnancy these past two weeks, and the stress was killing me. Sometimes I think they tell you about all of these soft markers because legally they have to, but most of the time things are just 'normal variants' of fetal growth. I'm going back in a week and a half to check on the kidneys and bowel again. ↑|
|Name: Amy B | Date: Feb 4th, 2011 3:13 PM
|Just to add- I think a lot of people are freaked out by amnio, but a lot of the studies are very dated. I did my research and some places say MC odds are more realistically 1 in 1600 as opposed to 1 in 200 or 1 in 300. Go to a perinatologist, ask them about their history. Mine had never lost a baby yet. Stressing out over the amnio was the worst part. I made myself sick for days, and when they put the needle in, I was like "That's it? This is what I have been freaking out about." I would not hesitate to do it again. There is still a 2% to 3% chance of MC in the 2nd trimester without amnio, I've read that amnio only increses it by 0.06%. I couldn't imagine spending the next 4 1/2 months worrying, always stressed. I just couldn't live like that, and I imagine the stress isn't good for the baby. I feel like it's better to know what you're up against so you know what to prepare for. Good luck to everyone. I have a feeling a lot of us were made to stress over nothing. ↑|
|Name: Brandi | Date: Feb 25th, 2011 10:35 PM
|I'm 16 and just recently found out I was pregnant. I have had no previous prenatal care, and this is my second pregnancy (my first I had an abortion). My doctor called me today and recommended I get a specialized ultrasound because they saw soft spots in my sonogram. Is this a serious problem and should I be concerned? ↑|
|Name: Tricia30 | Date: Mar 18th, 2011 5:11 PM
|Amy B, thank you for your reassuring words about amino. I am 30, pregnant with my third child. My first two are happy and healthy. I went in for my 19 week ultrasound and they found 2 soft markers pyelectasis, echo foci and possibly a third they had difficulty seeing a full pinky finger on one hand, but this one is not confirmed b/c the sonographer couldn't get a good look. I am scared to death and have been debating on getting amino for the an answer, so we can prepare ourselves if need be. I have been an emotional wreck and I am sure the stress is not good for me or the baby. It is definitely not good for my other two sons they are 3 1/2 and 10 months (yes baby #3 was a surprise blessing!) I feel like it is not fair to them to have a Mom who is in such an emotional state. Too make matters worse we are in the middle of a move to another state so my husband is living 500 miles away and as supportive as he is (trust me is a great father and husband) it just makes matters worse. When the boys go to bed at night I'm by myself scouring the internet in tears thinking worst case scenario. I have done lots of research on the odds of m/c with amino are much better than what they used to be. I am scheduled for April 1st, but may still cancel... ↑|
|Name: Alex | Date: Mar 30th, 2011 9:54 PM
|After viewing a number of posts and websites when soft markers turned up on my daughters ultrasound, I wanted to share my experience in hopes of giving others some comfort.|
My 18 week ultrasound, turned up two large choroid plexus cysts, two echogenic foci and a possible lemon or strawberry shaped head. My OB sent me for a level 2 ultrasound at a GTA hospital followed directly by a meeting with a genetic counsellor.
We had the ultrasound and the technician would not say much, but assured us the genetic counsellor would discuss all results with us immediately after the scan. In our meeting with the counsellor, the radiologist called in a verbal report on the results since there was not enough time between the scan and the appointment to provide the written report. The news was devastating. We had gone from having 2 very common soft markers to being told our baby had: an enlarged cisterna magna and cerebellum, nuchal fold at 6.7mm, ventriculomegaly, slightly lemon-shaped head and two areas in the heart that looked like there may be heart defects. The genetic counsellor told us based on these results there was a very high probability of genetic defects.
We had an amniocentesis the next day and scheduled a fetal echocardiogram the next week. It was the longest two weeks of our lives as we waited for all the results to come back. In the meantime, the radiologist finalized his report and when he did some remeasuring he decided there was no ventriculomegaly, and the cerebellum and cisterna magna were within the normal limits. This left us with potentially having heart defects, the two foci, the two CPCs and a nucal fold slightly over the 6 mm threshold.
All of the test results came back normal. A follow up ultrasound with a specialist in Toronto also assured us that there were no abnormalities on he could see. He said he sees thousands of CPCs and echogenic foci to the point he does not even report on them as they are not a cause for concern.
I gave birth to a healthy baby girl in October. It is hard to shake an experience like that, so I think we'll always be looking at her a little more closely. She is almost 6 months now and continues to meet or exceed her developmental milestones.
It helps to remember these soft markers on ultrasounds are not determinative of a defect. And also that mistakes are sometimes made. I hope my story can provide peace of mind to someone in a similar circumstance. ↑
|Name: Jlouise77 | Date: Jun 15th, 2011 4:38 PM
|I am 34 and I am only 14 weeks along, but they have found 4 "soft markers" on my ultrasound last week. 1st is a thickend nucal fold (but they dont know how this compares because I am not in a studied gestational time frame), he said the nasal bone doesnt look "as bright" as it should (nothing mentioned about length), the heart isnt on the proper axis so there is a definite heart defect and the lungs are brighter than the liver and they should be the same color on the ultrasound. The doctor said we have a 45% chance of having a baby with DS. It was just a regular scan and I havent had any blood work. I am scheduled for an amnio next week, so that will tell for sure. But nothing I am reading says anything about the lungs/liver and a brighter nasal bone density. I have read the heart issues with DS, the nasal bond LENGTH and the nucal fold, but the liver thing and the fact he didnt say nasal length is getting me. I am scared that the doctor doesnt know what he is doing. Has anyone heard about any of these things and them showing up this early? We are scared to death. ↑|
|Name: Baking#4 | Date: Jul 22nd, 2011 2:36 PM
|Hello everyone, Im 25 yrs old and 33 weeks pregnant with baby #4. I had an ultrasound done at 6 weeks confirming the pregnancy and how far along I was. Then I had another US done at 11 weeks for the NT scan which came back NORMAL. But then I had one at 18 weeks (its a boy!) and it all started going down hill. They detected that both of his feet are clubbed and saw a soft marker in his heart. So I was sent for another ultrasound for a second opinion. That came back the same. So then I went to a more "special" ultrasound at another hospital 2 hours away with more experienced doctors and this is what they saw |
Fluid in the brain
One clubbed foot (the other may be fine)
Several soft markers in the heart
and a shortened nasal bone
I refused the amnio testing. But Im still so worried that this baby may have downs. I met with a genitics counsler and she told me basically to prepare for a baby with downs. But my OB told me the GC doctors always hype you up for the worst and the baby could be born just fine. She said they would of considered my pregnancy high risk but they didnt. Anyone have any thoughts on this or have similar results but the baby being born fine? ↑
|Name: maya38 | Date: Jul 24th, 2011 4:19 PM
|im pregmacy in 23 week , i just foud that in scane that my boy has one soft marker in the brian , im so worried but the dr. said it may desapire ater few weeks. anyone has a smiller expience please advice.|
thak you all ↑
|Name: Arianna | Date: Aug 5th, 2011 9:19 AM
|HI All, I am at week27 still considering whether to do an amnio or not; my baby boy has a golfball in the heart (totally harmless said the doctor) and the pielectasia has grown from 3mm to 4,2mm in 2 weeks, which is starting being borderline to be considered a marker; Ihave read the 2 markers together give you 30% probability of baby with downs...I will keep you posted on how it evolves, but thanks all for rreassuring regarding the amnio! ↑|
|Name: maya 38 | Date: Aug 14th, 2011 7:05 PM
|hi all, i found the below in google it may be heldfull to understand more about soft markers.........|
Approved by the BabyCenter Australia Medical Advisory Board
Last reviewed: May 2009[Show references]
What are ultrasound soft markers?
What are chromosomal abnormalities?
Choroid plexus cysts (CPCs)
Renal pelvis dilatation (RPD)
Intracardiac echogenic foci ("golf balls")
What other markers might be seen?
What will happen if a marker is found?
What are ultrasound soft markers?
Ultrasound soft markers are slight deviations from the normal anatomy seen on a scan, which may indicate a problem, though not necessarily
Confused? Well, it's a rapidly growing and therefore complex field. Because so little is understood about these so-called markers, or "soft markers", their discovery can cause a great deal of anxiety. In themselves, they are not considered an abnormality; most have no significance whatsoever and usually disappear in a matter of weeks. The reason they are not ignored is that occasionally, ultrasound markers may be a sign of an underlying chromosomal abnormality. Although their presence alone does not necessarily make someone "high-risk", they slighty increase the statistical chances of chromosomal abnormalities.
What are chromosomal abnormalities?
Chromosomes carry all our genetic material: having the right number in every cell is crucial to normal development. All cells should have 23 pairs of chromosomes. At the moment of conception, 23 from the father's sperm and 23 from the mother's ovum (egg) come together to form a new life. Mistakes can happen during this process and when they do, there is a high chance of miscarrying the pregnancy. In fact, half of all miscarriages are due to chromosomal abnormalities (Pilu and Nicolaides 1999). Sometimes, though, the pregnancy continues with a baby that has either too many or too few chromosomes, or sometimes with pieces of chromosomes mixed up or missing.
A baby with Down syndrome has three chromosomes number 21 instead of two. This is why the condition is also known as 'trisomy 21'. Other chromosomal abnormalities include Turner's syndrome ("monosomy X", or the presence of a single sex chromosome), Edward's syndrome ('trisomy 18') and Patau's syndrome ('trisomy 13').
Many babies with chromosomal abnormalities will have ultrasound markers that may be seen during the 20-week anomaly scan, while many will have full structural abnormalities (malformations or "hard" markers). So if a soft marker is seen, the sonographer will carry out a careful examination of the baby to look for other problems. If the baby looks normal in every other way, it most probably is normal .
The four most common soft markers are outlined below :
Choroid plexus cysts (CPCs)
To be told your baby has a cyst or cysts in its brain is scary. In fact, a choroid plexus cyst is just a collection of fluid in the part of the brain which makes the fluid that cushions the brain and spinal cord. The 'cyst' is simply a small build-up of fluid as it gets clogged in the fluid-producing tissue. As the baby grows the choroid plexus gets proportionally smaller and the cysts disappear. CPCs are almost always gone by 24 weeks and do no harm to the baby's brain functioning.
CPCs, which look like black spots inside the brain, were first identified in the 1980s. They caused a scare initially because many babies with Edward's syndrome were found to have them. However, research has shown that babies with Edward's syndrome also have other abnormalities, such as heart defects, strawberry-shaped heads (see image 1, below), overlapping fingers, a single umbilical artery, abdominal wall defects among many others.
It is now known that one per cent of all babies have one or more CPCs in pregnancy (see image 2, below) . In the absence of other markers (isolated CPCs) they are of little relevance and sonographers in many hospitals do not even mention them any more.
1. Choroid plexus cyst in a baby with Edward's syndrome (below)
2. Choroid plexus cyst in a normal baby (below)
Renal pelvis dilatation (RPD)
Also known as mild hydronephrosis or excess fluid in the centre of the kidneys, renal pelvis dilatation (RPD) is seen on a scan as black spots in one or both kidneys. The fluid is urine produced by the baby's kidneys that collects in the middle before going down tubes called ureters to the bladder. The build-up of fluid is usually due to slower flow of the urine and, as with choroid plexus cysts (CPCs), the tubes get bigger as the baby grows and the urine flows more easily.
Some babies with Down's syndrome have RPD but it's a very poor marker when found in isolation. Many normal babies have RPD, too and in fact most babies with RPD will actually be normal. If no other markers or abnormalities are seen, your baby will be scanned again at 32-34 weeks by which time the kidneys may well look normal. If there is still increased fluid, your baby will have another scan after birth. He will most probably be given antibiotics for his first few months as he will be prone to urine infections. Finding out about RPD in pregnancy is a good thing because it allows your baby to get prompt treatment for the condition if still present after birth.
Normally soft tissues look grey and speckled on scan. If areas in the baby's bowel look bright white, this is known as echogenic bowel. It is difficult to standardise what is echogenic bowel. As a rule, it is said to be significant if it looks as bright as bone in the scan. Echogenic bowel can be associated with chromosomal abnormalities or cystic fibrosis and it can also be seen in otherwise normal growth-restricted babies, but by far the most likely cause at the time of the 20 weeks scan is the baby having swallowed blood-stained amniotic fluid, following a little bleed into the sac. This might have happened weeks before and without you knowing;.
Intracardiac echogenic foci ("golf balls")
'Golf balls' appear as small white balls in the heart, most commonly in the left ventricle. Though occasionally associated with heart defects or chromosomal abnormalities, they are very common (about one to four per cent of all babies have them [Pilu and Nicolaides 1999]) and most are probably a variation of normal. They are seen more frequently in babies of slim mothers, whose scans are clearer.
What other markers might be seen?
There have been many attempts to find other markers for Down syndrome including short limbs, a gap between the big toe and the other toes and a short or curved little finger, but because so many normal babies also have these features, they are not very useful.
What will happen if a marker is found?
A single marker is almost certainly of no significance, but may slightly increase the risk that your baby has chromosomal abnormalities. If two or more markers are found, the risk of the baby having a chromosomal abnormality is increased further. But, however many markers or abnormalities are seen on scan, a diagnosis can only be made by CVS or amniocentesis. This is because the only way of knowing if a baby's chromosomes are normal is to examine them: to do this, some of the baby's cells must be obtained.
If you have already had a screening test for Down syndrome, either a nuchal translucency scan or a blood screening test, you may want to discuss how the presence of the markers will affect your risk. The sonographer will talk to you about this. If necessary, you will be referred to a fetal medicine specialist ↑
|Name: Arianna | Date: Aug 29th, 2011 9:53 AM
just an update as promised; at week 28 the golfball or EIF was no more to be seen and the kidney dilatation (pielectasis) has not grown any further ( I am having scans pratically every week). The doctor said not to worry because the kidney dilataion is still to be considered normal/physiologic at this stage of the pregnancy and that I should go back 1 month before due date to check if it has grown to 8mm or more (then it would be no more normal). He would not recommend an amnio, so I decided to just wait and hope and see, but I have to admit it is not easy! I wish a lot of courage and strength to all those who are going through the same experience, please post all updates and results! ↑
|Name: EVA | Date: Oct 3rd, 2011 11:38 AM
|Hi everyone-I find this page an apportunity to express our anxiety about pregnancy .i feel so isolated in my circumstances; I had my 20 week ultrasound, they told me one of my babies,two girls, has two cyst on her brain and a foci in her heart.We even thought about|
abortion ...but amnio is ok. Im 22 weeks now and im terrified.What would happen?id like to ask to all of you to write at the end of pregnancy .I will to give reassurance to other mothers or to start facing reality.thanks ↑
|Name: EVA | Date: Oct 3rd, 2011 12:03 PM
|Id like to say thank you to maya 38 for her research and ariadna for her result. ↑|
|Name: maya 38 | Date: Nov 4th, 2011 4:32 PM
|hi all,as promised to share my result... im week 38 and still the soft mark in the brain shows in the scan but without any increase in size . the dr, said not to warry and also said that i have a chance of 80% for a healthy baby. he said nothing to do just to wait till delivering the baby then i will show , ↑|
|Name: maya 38 | Date: Nov 11th, 2011 3:12 PM
|i had an appointment with dr today she decided to go for an operation after 2 days sice the baby head is up and legs are down, therfore all scan test is good.|
please every one pray for me and for my baby
i will update u all after delivering, thank you all for support and wish you all healthy life ↑
|Name: Krystal | Date: Nov 13th, 2011 11:59 PM
|Went for my 18 week scan and they found to soft spots. 2mm extra fuild in one kidney. And a calcuim deposit on the heart. I'm so worried.. I'm 20 years old and have a healthy 10 month old.. This is my second pregnancies what are the odds of my baby having downs ↑|
|Name: Arianna | Date: Nov 17th, 2011 8:06 PM
|just wanted to update and give good news: my baby boy was born last friday and he does NOT have DS, in spite of white spot in the heart and kidney dilation. I have read plenty on soft markers during the pregnancy and learnt that they dont mean DS and the lack of soft markers does not mean healthy child. I wish you all best of ,luck with your pregnancies and a lot of joy with your LOs ↑|
|Name: maya 38 | Date: Dec 2nd, 2011 7:02 AM
|hi want all, i just want to update u, i was born my baby boy on 14 nov, his fine but enen after birth small spot of soft mark still showing in the brain i have an appointment to do brain scan after 3 month, but phisically everything show normal and healthy and look like normal baby, the only thing that scar me is the soft mark in the bain. hope it will desapire by it self.|
thank you all ↑
|Name: Eliza | Date: Dec 5th, 2011 1:48 PM
|I went for my 19 week Anatomy scan and was told everything is fine but one of my bay's kidney's is slightly larger than other. She said this can be a marking for Down Syndrome or just maybe an infection. This usually goes away on its own. Of course this has me very worried but doctor told me not to worry that this can be normal. She even didn't suggest an Amniocentheseis. I am at week 20 now and very undecided. I would love to get some feedback. Was anyone else told this? ↑|
|Name: Eliza | Date: Dec 5th, 2011 9:16 PM
|I went for my 19 week scan and was told that one of my baby's kidney's were a little larger than other. She told me this is not abnormal. I asked her if I should get an amniocenthesis and she said no. Of course I am still worried that this can be a marking for Down Syndrome. I need some feedback. ↑|
|Name: lenin.k | Date: Jan 10th, 2012 3:19 AM
|My wife had scan 20 week ultrasound,scan report was 2 soft marker on heart and enlarged one kidney.. Doctor told that need invasive test..But we did not do that..We prayed god..Yesterday my baby born..He is perfectly fine..So my point is soft marker are frequently for healthy babies will come. ↑|
|Name: Mommy5 | Date: Jan 11th, 2012 1:59 PM
|Baking # 4, I had my 19 wks u/s and they found one club foot and spots in brain and heart. I am curious, how is your baby? Hope everything went well just fine. Greetings ↑|
|Name: Leah | Date: Feb 11th, 2012 1:51 AM
|I was 20 weeks pregnant when I received a call from my Dr's office telling me that my quad screen came back positive for downs syndrome. I was 16 weeks pregnant when I had the test done. My ratio was 1/230 for DS. I am 31 years old. They scheduled me an appt for an ultrasound at a larger hospital and I also had to speak with a genetic counselor. I was scared to death during my level 2 ultrasound. I couldn't even enjoy it. Me and my husband sat there looking at the screen terrified. After the ultrasound the doctor came in and said they saw an echogenic focus (calcium deposit) in our baby's left ve ↑|
|Name: Leah | Date: Feb 11th, 2012 2:00 AM
|I was 20 weeks pregnant when I received a call from my Dr's office telling me that my quad screen came back positive for downs syndrome. I was 16 weeks pregnant when I had the test done. My ratio was 1/230 for DS. I am 31 years old. They scheduled me an appt for an ultrasound at a larger hospital and I also had to speak with a genetic counselor. I was scared to death during my level 2 ultrasound. I couldn't even enjoy it. Me and my husband sat there looking at the screen terrified. After the ultrasound the doctor came in and said they saw an echogenic focus (calcium deposit) in our baby's left ventricle of his heart...which is a soft marker for DS. The doctor said that if they would not have seen the calcium deposit in the baby's heart than they would have changed my odds to 1/600, but because of the spot that they were keeping my odds at 1/230. I was relieved when the doctor said that he saw calcium deposits in baby's hearts on ultrasounds 3-5 times per day (normal baby's). The doctor offered to do an amnio that day but me and my husband decided not to. We figured that we would put it all in God's hands and take whatever he gave us. I was happy to see that all organs looked good. The docor told me that the calcium deposits on hearts have no health risks and do not harm the baby at all. I am still worried that my baby will have DS, but I will love him no matter what! ↑|
|Name: Vanessa | Date: Feb 18th, 2012 8:40 PM
|I just had the same.exact thing doen im scard worried I cry im.praying anf hoping for everything to be alrigjt I get my results in 10 days if its a syndrome or infection ugh I dont know how this happend but im.praying and so.stresses out ↑|
|Name: Vanessa | Date: Feb 18th, 2012 8:53 PM
|Im.18 weeks by yhe way they called.it something like. Ventricomolgy or.something ↑|
|Name: lip6417 | Date: Feb 22nd, 2012 4:24 PM
|I am twenty weeks pregnant and the doctor found three soft markers on my baby. Large kidneys, spot in the baby's heart and the thickness in the back of the baby's neck. Please let me know if your baby came out normal. ↑|
|Name: lip6417 | Date: Feb 22nd, 2012 4:28 PM
|The doctor gave me a 50% chance that it would come out with down syndrome please if you had the same test done please give me a little peace of mind.... ↑|