Parrothead Posted June 13, 2011 Share Posted June 13, 2011 with an ultrasound? I know very little about this. Quote Link to comment Share on other sites More sharing options...
Chris in PA Posted June 13, 2011 Share Posted June 13, 2011 A homeschool friend of mine lost a baby last year due to Trisomy 13. The ultrasound detected a cleft palate at about 20 weeks and a few other developmental issues which led to the testing that confirmed Trisomy 13. Quote Link to comment Share on other sites More sharing options...
Karen in CO Posted June 13, 2011 Share Posted June 13, 2011 A level 2 ultrasound can be done to detect markers for it, but it isn't definitive without a blood test of the baby. I was an "older" mom when my youngest was born and refused the giant needle in my belly. My ob and I compromised on a level 2 ultrasound instead. I tried to work with her as much as possible because I'm very opinionated, and she was doing a VBAC which most docs had refused me. Quote Link to comment Share on other sites More sharing options...
Parrothead Posted June 13, 2011 Author Share Posted June 13, 2011 Thanks. I have a friend who has a family member who had an ultrasound on Saturday and was told then the baby has Trisomy 13. I know abnormalities can be detected but I would think a chromosome test would be needed for a firm diagnosis. Quote Link to comment Share on other sites More sharing options...
Melinda in VT Posted June 13, 2011 Share Posted June 13, 2011 You need a DNA test to know for sure. My youngest son was suspected of having Trisomy 13 based on an early ultrasound, and I had CVS to get a DNA sample for testing. Quote Link to comment Share on other sites More sharing options...
Parrothead Posted June 13, 2011 Author Share Posted June 13, 2011 I just talked to my friend. Nothing but the ultrasound was done. So I told her to tell her family member to insist on more testing. Quote Link to comment Share on other sites More sharing options...
twoxcell Posted June 13, 2011 Share Posted June 13, 2011 They can only determin risk factors by the mothers blood test and ultrasound. You have to have an amnio or blood test on the baby for actual conformation. I had what they call a positive blood test for downs with my third, which actually mean based on my results that my chances were 1 in 178 instead of 1 in the thousands for my age. We had an ultrasound done and everything checked out. dd does not have downs at all. Quote Link to comment Share on other sites More sharing options...
Melinda in VT Posted June 13, 2011 Share Posted June 13, 2011 I just talked to my friend. Nothing but the ultrasound was done. So I told her to tell her family member to insist on more testing. The maternal-fetal specialist I saw was positive that my baby had Trisomy 13 or Trisomy 18 or possible Trisomy 21 and would not live much beyond birth. She was positive, based on the ultrasound alone. (The ultrasound showed a cystic hygroma and fetal hydrops.) I insisted on a CVS test (what they use to check DNA when it's too early for an amnio). The test came back 100% normal. No trisomies anywhere. Quote Link to comment Share on other sites More sharing options...
TracyR Posted June 13, 2011 Share Posted June 13, 2011 They need definitive blood testing. When I was pregnant with my youngest she had what were three cysts on her right kidney. Then when I was far along enough I had the AFP test done and for the very first time it came back positive for Down's syndrome. I had a level 2 ultrasound done and they didn't seem to find anything else. Fastforward to when my daughter was born. She wasn't born with Down's syndrome. But she was born with something else called VACTERL Association. So without a test, it could be, it might be , or it may be something else or nothing at all. http://livingwithtrisomy13.org/content.php/117-for-medical-professionals Quote Link to comment Share on other sites More sharing options...
Carrie12345 Posted June 13, 2011 Share Posted June 13, 2011 She needs an amnio or CVS (unless she's a wait-and-see person) and a new flipping doctor!!! You can not dx a chromosome disorder without chromosome testing. Quote Link to comment Share on other sites More sharing options...
JennyD Posted June 13, 2011 Share Posted June 13, 2011 No, she needs either a CVS or an amnio. The first trimester ultrascreen test (which I assume is what you're talking about -- combo ultrasound and blood test) gives odds. As one of the prior posters said, a 'positive" result on the ultrascreen means that your results are higher than a certain cutoff. It does not mean that your baby has the trisomy in question. Similarly, a negative result doesn't mean that your baby doesn't have the trisomies tested for (13, 18, and 21, IIRC) - it just means that the odds are below the cutoff. I have known two folks who lost babies to Trisomy 13, unfortunately. I will be hoping for the best for your family member. Quote Link to comment Share on other sites More sharing options...
Cricket Posted June 13, 2011 Share Posted June 13, 2011 So without a test, it could be, it might be , or it may be something else or nothing at all. http://livingwithtrisomy13.org/content.php/117-for-medical-professionals :iagree: A friend of mine had a baby last month. They found a cleft palate in the u/s. The doctors prepared her for trisomy 13 but after he was born tests were negative. I believe the doctors were going to test for a few mores issues. I wish the best for your friend as well! I knew a family a few years ago that had two children with cleft palates. The older one had no other issues but the younger one did have some growth problems. (But, then again, both parents were very small.) We moved away before I learned if they discovered any genetic issues with the younger child. Quote Link to comment Share on other sites More sharing options...
MariannNOVA Posted June 13, 2011 Share Posted June 13, 2011 I lost a baby who had a trisomy 13 many years ago. At a 22 wk u/s, there was no heartbeat -- up until that time, there was no indication via u/s that anything was amiss. I agree with the others who suggested a CVS or amnio. Quote Link to comment Share on other sites More sharing options...
Parrothead Posted June 13, 2011 Author Share Posted June 13, 2011 I lost a baby who had a trisomy 13 many years ago. At a 22 wk u/s, there was no heartbeat -- up until that time, there was no indication via u/s that anything was amiss. I agree with the others who suggested a CVS or amnio. Thank you. I've passed on all the information y'all have been so kind to give. The ultrasound was at 4 months so I'm assuming 16 weeks or so. I don't know the particulars of what exactly was found to cause the doctor to think Trisomy 13. I don't want to give my friend and her family false hope, but I don't want them making decisions simply based on what was found at the ultrasound. Quote Link to comment Share on other sites More sharing options...
Parrothead Posted June 14, 2011 Author Share Posted June 14, 2011 Well, my friend talked to the mom of the pregnant family member. The mom was at the ultrasound with her daughter. More details are coming out. Apparently the baby is in a pretty bad way. I'm trying to keep their privacy so I can't say exactly what they saw. But there are some vital parts that did not form. If you would, please pray for my friend's niece. Quote Link to comment Share on other sites More sharing options...
Slartibartfast Posted June 14, 2011 Share Posted June 14, 2011 :grouphug: :grouphug: :grouphug: :grouphug: I will pray for them Quote Link to comment Share on other sites More sharing options...
MariannNOVA Posted June 14, 2011 Share Posted June 14, 2011 Well, my friend talked to the mom of the pregnant family member. The mom was at the ultrasound with her daughter. More details are coming out. Apparently the baby is in a pretty bad way. I'm trying to keep their privacy so I can't say exactly what they saw. But there are some vital parts that did not form. If you would, please pray for my friend's niece. Praying. :grouphug: I will share that when we received the pathology report after our loss, my sister (who is an OB/GYN) told my mom that 'what our baby had was very very bad - incompatible with life.' I had been reading on line about trisomy 13 after i received the report and that was what I had read as well. :grouphug::grouphug::grouphug: Quote Link to comment Share on other sites More sharing options...
Melinda in VT Posted June 14, 2011 Share Posted June 14, 2011 I am so sorry. When we were going through our misdiagnosis and testing, I found the boards at babycenter.com to be very helpful. If you bring up the list of communities and search on "prenatal testing" you will find a bunch of forums dealing with poor prenatal diagnosis, including one on terminating for medical reasons and one on continuing to carry despite a fatal diagnosis. Quote Link to comment Share on other sites More sharing options...
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