S/O ultrasound accuracy -- undetected problems?

[happypamama]

We have our ultrasound coming up soon, a little after 22 weeks. I've never had an ultrasound later than 12 weeks, but given my age and given that my other children really want to know if it's a boy or a girl, we decided to get one.

 

I didn't ask for any tests other than the quad screen at 14 weeks. Quad screen came back very low odds for spinal cord issues and trisomy 18 (or 13 -- I can't remember which one it screens for). My Down Syndrome risk came back as higher, but still normal hormone levels -- no higher than any other woman my age (39). So it's unlikely that the baby has DS, but I still have a niggling concern. (Fwiw, I'm not likely to get an amnio. I'm planning another homebirth, and I want to be sure the heart, etc. are okay to be out of the hospital, plus since family isn't close by, I want to have an idea ahead of time if we may need extra hands to help with the older children.)

 

If the baby has DS or some major issue, how likely is it that *something* will show up on a routine u/s? Google says there are many soft markers that can indicate DS, and I'm thinking that at 22 weeks, there would be at least one or two of them that show up, right? And if the heart and bowels are in need of extra care, that late we should be able to see some indication? Anyone had a major issue that did NOT have any indication on an u/s that late?

 

(And if you're the praying sort, I'd appreciate prayers that we get clear answers about the baby's health so we can make the right decisions about the birth either way.)

[kbutton]

Well, you've had kids more recently than me, but my ultrasound 9.5 years ago was really, really detailed. My OB farmed out ultrasounds to a group that had high-risk patients, so that might be part of why I had such a detailed one. They looked very closely at the heart and the blood vessels. I don't remember what else, but it was so much more informative than our first one (or else the tech just didn't tell us as much on our first one--different practice), and it seemed to take longer. 

[Crimson Wife]

I've had regular 20 week ultrasounds and a detailed level II ultrasound. The baby that got the level II ultrasound is the one that has special needs but they're not things that could be detected on an ultrasound. The hearing loss is due to a genetic mutation and didn't start until some time after age 2. The autism is possibly related to her being small for gestational age (she has always seemed like a much younger child than her chronological age) but plenty of babies are SGA but turn out to be completely typical in their development.

[sangtarah]

I can share what our ultrasound was like just two days ago. 

 

Beforehand, they sat us down and went through all the genetics (because of my age). I think they said there are several markers for DS - at least 7 or 8. And 1 marker does not raise your % chance of DS. Our scan was very detailed. The sonographer measured the head and torso circumference, went through each chamber of the heart, with bloodflow, measured femurs of each leg, upper arm bones of each arm, fingers, toes, looked at the kidneys, the stomach, diaphragm, placenta, umbilical cord, took some profile pictures and looked at facial structure, along with the gender identification. I know they also look at the back of the neck. I may have forgotten something. It was very detailed, and I think between the scan and then waiting for the doctor to discuss the results/look at the placenta again, it took an hour and a half. 

 

Hope that helps. The office we went to did offer us a chromosome blood test, an alternative to the amniocentesis. 

[umsami]

Seven years ago when I was pregnant with my last, they did a nuchal scan at 12 weeks to screen for Down's Syndrome.  It was viewed as quite accurate.  Because I've been AMA for all of my pregnancies, I've always had detailed u/s for basically the 2nd and 3rd trimester.  They can detect a lot via u/s.  It's not perfect (of course), but it's a very good and accurate screening tool if the u/s tech is well skilled.  If you have an option, doing it at an academic medical center or at a maternal fetal medicine specialist is probably going to have more experienced techs in detecting issues than a regular ob's office.

Edited November 18, 2016 by umsami

[bethben]

My oldest has a chromosome problem. We never did any blood tests because we would have had him either way.  This was 18 years ago and they did miss a significant heart problem that while life threatening, was not life threatening immediately.  We had had a bunch of ultrasounds also because they were following a supposed kidney/bladder issue.  He did not wind up with a kidney/ bladder issue.  He had trouble breathing at birth, was given oxygen, and then rushed to the children's hospital.  I'm pretty sure ultrasound has advanced since that time.  While I know the reasons people have home births, my experience makes me nervous about people who have them.  

[Ali in OR]

My disabled dd's birth defect is a brain that didn't completely divide in two. This was not detected at her 20 week ultrasound, but that test was done in the doctor's office. By the time I was pregnant with my second, that medical group routinely had all 20 week ultrasounds done at the hospital. I presume that a better machine would have detected something. Knowing ahead of time would have only caused intense worry and depression so I'm glad I didn't know ahead of time--better to fall in love with baby first and face life's challenges together.

[wonderchica]

I work in early intervention. We still get a lot of children whose birth defects/conditions weren't identified prenatally, including Down syndrome. That's usually for younger mothers who aren't getting the more detailed tests, though. However, we see a ton of kids with various prenatal diagnoses. It's still a crapshoot, really.

[Lanny]

This was about 6 or 7 years ago and I do not remember exactly how many weeks DIL was, but I think it was about 25 (?) and 25 or 26 weeks is the legal limit here in Colombia.  No "Partial Birth" abortions here, except in cases like this one.  DIL went in for the U/S, so they would know the sex of the baby. There was an unexpected *catastrophic* problem.  I forget the name of the problem, but had the baby been born full term, she would have died in a few seconds or a minute or two.   My Stepson called my wife and explained to her. My wife had me call her OB-GYN.  He has his own Ultrasound machine and is an "expert" (not a word I apply to people often) with Ultrasound.  He told me that even someone who is not an "expert" would not misdiagnose that issue, because it is so obvious.  He was leaving on vacation the next day.  DIL and SS went to his office and he confirmed the issue and he wrote an order for an Abortion. Had DIL been more advanced in her Pregnancy, they would have needed a Judge to approve the Abortion.  My   wife took the Fetus to the Lab in the hospital where her OB-GYN has his office (where DD was born) and when they went back, the OB-GYN told them they could try to get Pregnant again, that it was a one time thing.  So, to answer the question in your post, that's one time when a routine U/S did detect a problem that was a huge (and extremely horrible) unexpected surprise.

 

Take good care of yourself and your baby! Sleep well, eat well and  exercise.  

[Heathermomster]

My DD's Hirschsprung's Disease was not detected with a 20 week us or the 28 week 3-D one that we paid for.  By 9 weeks of age, DD lost 18.5 cm of her large colon. 

[Epicurean]

I just had a 20 week ultrasound a while ago. They found a soft marker for Downs. A spot on the heart, I think it's called IEF. My DNA results put me at low risk (1 in 10k vs 1 in 434 for my age group) so they aren't that worried. They've scheduled a second ultrasound at 28 weeks to see if it disappears, which they usually do. It's hard not to worry, though, so I'm right there with you.

[wapiti]

They won't necessarily detect lots of things - sometimes because the issues are too small, sometimes because the issue isn't fully developed yet, sometimes because the ultrasound doesn't look at the particular issue, and sometimes due to the talent of the tech.  For example, the (many) ultrasounds didn't see my child's tethered spinal cord.  His cardiomyopathy wasn't developed at the time.  Still, my child's kidney problem was detected prenatally and he started antibiotics at birth (he was septic, presumably for additional reasons).

[bettyandbob]

15 years ago, I was low risk for age (35) and various tests with a normal ultrasound.

 

Ultrasounds are much more detailed today.

 

My ds has down syndrome. It would not have helped me to know. I always had hospital births, so no change of plan needed for that. I would have been totally stressed the rest of my pregnancy.

[vonfirmath]

My oldest has a chromosome problem. We never did any blood tests because we would have had him either way.  This was 18 years ago and they did miss a significant heart problem that while life threatening, was not life threatening immediately.  We had had a bunch of ultrasounds also because they were following a supposed kidney/bladder issue.  He did not wind up with a kidney/ bladder issue.  He had trouble breathing at birth, was given oxygen, and then rushed to the children's hospital.  I'm pretty sure ultrasound has advanced since that time.  While I know the reasons people have home births, my experience makes me nervous about people who have them.  

 

They missed a lung development problem on my nephew 13 years ago. A baby that was supposed to be a home birth but my sister could not find a midwife who would take her insurance and could not afford to pay out of pocket. She was very thankful for that, in retrospect.

[ktgrok]

Have you considered doing one of the NIPT tests, the Panorama seems to have the most accuracy. It's a blood test that checks for various chromosomal problems. It can have false positives, but they are very rare...only in cases where the placenta has something called genetic mosaicm. It's about as accurate as the CVS test without the risks. 

[EmilyGF]

Have you considered doing one of the NIPT tests, the Panorama seems to have the most accuracy. It's a blood test that checks for various chromosomal problems. It can have false positives, but they are very rare...only in cases where the placenta has something called genetic mosaicm. It's about as accurate as the CVS test without the risks. 

We had the free cell DNA test done. Our insurance covered it if there were abnormalities in the ultrasound.

Emily

[Insertcreativenamehere]

I have a 4 yo son with DS. My ultrasound at 11 weeks for the nuchal fold was extremely abnormal; I was told there was little chance the baby would even survive. We found out through additional genetic testing around 13 weeks that we were expecting a boy with Down syndrome. I was monitored very carefully throughout the pregnancy and additional markers popped up -- a hole in the heart (VSD) as well as short femurs and some brain stuff. Aborting was never an option, but we were glad to know ahead of time to emotionally prepare and research best care options. 

 

 

[maize]

I would also look into Panorama if your insurance will cover it. I had the screening with this current pregnancy because of some early ultrasound concerns and the results came back as very reassuring.

[busymama7]

I had a close family member born about 10 years ago that had severe hydrocephalus that was not diagnosed on US. His mama had (not the only) one the day before he was born. It's kind of inexplicable how something like that could be missed but it was. I think that US is not fool proof for getting an all clear on the babies health. If they see something then it's likely there but I'm not convinced that it's accurate enough to make assumptions about babies health and decisions regarding birth location.

 

For the record,I have had 7 home births and am a midwife. I'm not saying you shouldn't have a home birth. I'm saying that relying on the US To give you the all clear is not really what I would advise. the decision should be made for other reasons and knowing that there still could be something there the US didn't see.

 

I don't mean to overstep here. This is just my opinion.

[happypamama]

Have you considered doing one of the NIPT tests, the Panorama seems to have the most accuracy. It's a blood test that checks for various chromosomal problems. It can have false positives, but they are very rare...only in cases where the placenta has something called genetic mosaicm. It's about as accurate as the CVS test without the risks.

I think that would be the next step if we decide we need to know more.

 

It is not terribly reassuring to hear that ultrasounds miss some big things sometimes, but I suppose that's how it goes. I keep trying to decide if I would feel more stressed by knowing something ahead of time or more calm because I'd feel more prepared. I think the latter, especially if it meant I could prepare my others for things being different from what they expect, but I don't know.

 

I've had four other home births without any problems and without testing of any type, and there's always the what if concern. But then I have to remember that nothing is ever guaranteed, and the full range of care and testing and everything didn't save my niece from being stillborn at 36 weeks. Gut intuition or paranoia? Hard to tell.

[Guest]

I think that would be the next step if we decide we need to know more.

 

It is not terribly reassuring to hear that ultrasounds miss some big things sometimes, but I suppose that's how it goes. I keep trying to decide if I would feel more stressed by knowing something ahead of time or more calm because I'd feel more prepared. I think the latter, especially if it meant I could prepare my others for things being different from what they expect, but I don't know.

 

I've had four other home births without any problems and without testing of any type, and there's always the what if concern. But then I have to remember that nothing is ever guaranteed, and the full range of care and testing and everything didn't save my niece from being stillborn at 36 weeks. Gut intuition or paranoia? Hard to tell.

(Hugs) Because I lost a baby in labor, I think it is much better to know in advance if the baby may need special care. Having done fine in previous labors offers no guarantees. I'm sure you know this, but there's a different kind of knowing when the unthinkable actually happens to you.

 

My baby died five minutes away from the hospital. I intended to have a Birth Center birth with midwives. I can't tell you how it haunted me to wonder if my daughter would have lived had I been five minutes away at the hospital. Do babies also die at the hospital? Yes, of course they do. And there is no way to know what other bad outcomes may have happened had I been at the hospital; one cannot assume that would have been a better outcome. However, what I wish someone had said to me when I was pregnant and planning a Birth Center birth is that low risk does not mean no risk and each pregnancy and birth comes with it's own circumstances and risks. Even if "only" one birth in 300 results in fetal demise or maternal demise, when it happens to you, it is 100%.

 

I wish I had been a little more paranoid. I wish I had availed myself of the exceptionally advanced medicine all around me instead of clinging to an "ideal birth" five minutes away from that care, because sometimes five minutes is 4 minutes and 30 seconds too long.

 

I really hope my post doesn't come off like a jerk telling a horror story to a concerned, pregnant mama. But I wish I could have a second chance to decide between gut or paranoia again because I might have a dear daughter alive and well.

[happypamama]

Quill, no worries -- I get you. And that's really the crux of it -- the others have all been fine, some despite some strange odds (that were one time things), but it's all about each individual birth. And there's no guarantee.

[MeaganS]

Dd8 has Turners Syndrome which should have been seen on an ultrasound but my ob spent all of 5 minutes doing hers at 20 weeks and never noticed. She ended up being diagnosed at 6yo and as a result, we also now know about some heart defects we never would have been aware of until they became an issue.

 

Apparently this is common with TS because only 1/3 are diagnosed as babies.

 

She was diagnosed when I was pregnant with dd0, and when I informed the ob, she had me do a very in depth ultrasound at a special office. Dd0 is fine. 😊

Edited November 19, 2016 by Meagan S

[happypamama]

MeaganS, yikes that it wasn't seen! Our u/s is scheduled at an imaging site. We had our 7w one done at one of the sister sites, and it was good, so I'm hoping that they'll take a good amount of time for a thorough job. It's a little tricky because I don't use an OB. My midwife is awesome but only good for low risk. My family doctor has been absolutely amazing and happily wrote the requests for the u/s and the quad screen because of my age. If things come back looking higher risk than my MW is comfortable with, then I will look for an OB or MFM specialist to evaluate things further.

[ktgrok]

MeaganS, yikes that it wasn't seen! Our u/s is scheduled at an imaging site. We had our 7w one done at one of the sister sites, and it was good, so I'm hoping that they'll take a good amount of time for a thorough job. It's a little tricky because I don't use an OB. My midwife is awesome but only good for low risk. My family doctor has been absolutely amazing and happily wrote the requests for the u/s and the quad screen because of my age. If things come back looking higher risk than my MW is comfortable with, then I will look for an OB or MFM specialist to evaluate things further.

 

Can your midwife script out lab work? My midwife did my Panorama DNA test. I actually talked to her about it, then contacted Panorama and they called her and worked out the details. They sent me the kid directly, and I brought it to her and she drew the blood. But if she didn't do blood draws they would have sent a phlebotomist to my house directly to do it. 

[happypamama]

Can your midwife script out lab work? My midwife did my Panorama DNA test. I actually talked to her about it, then contacted Panorama and they called her and worked out the details. They sent me the kid directly, and I brought it to her and she drew the blood. But if she didn't do blood draws they would have sent a phlebotomist to my house directly to do it.

She can order some stuff, but since she isn't in network for my insurance (I pay her directly for her services), it can be a hassle to get them to cover it. Thankfully, my family doc is understanding.

[happypamama]

So. We got to see the baby today. Waiting for the doctor's report, but we got to see all the major parts like arms, legs, etc. Got to see four heart chambers working and the three vessel cord. The sonographer couldn't tell us if everything looked normal though.

 

We asked to see the gender. First it looked obvious, and then the baby moved and would NOT give us a good look at all. Toward the end, she thought she could actually see the other. So we don't know what it is. :)

[livetoread]

I had a level 2 ultrasound done around 20 weeks or so when I was pregnant with my daughter 16 years ago. It completely missed her major heart defect which was discovered at her 6 month well baby appointment. I delivered in a birthing center connected to the hospital and she seemed fine after birth, though her nostrils were flaring when she breathed.

 

In one sense I'm glad we didn't know because I had a wonderful water birth and we weren't separated. If we had known, she would have been a high risk delivery and whisked away for monitoring etc. However, I think we were lucky and if I had known about her heart, I would not have chosen the birth center even if it had been an option. Like I said, we were lucky that it was a short, uncomplicated delivery that didn't tax her heart or compromise her oxygen given that her oxygen would have been lower than ideal anyway.

[AimeeM]

DS7 has several congenital defects/malformations. Technically, all should have been easily found prior to birth. We had two ultrasounds (because our insurance allowed it - not for any other reason), but nothing was mentioned that I recall. We did not find out about his congenital defects until he became symptomatic and by that point it was scary and hard.

 

As a result of DS7's defects/malformations, DS4 was monitored by a fetal-care specialist... instead of simply the OBGYN that had monitored during my prior two births.

 

Is it possible for you to have your ultrasounds done by a fetal-care specialist (if you aren't already seeing one)?