My name is Jamison Beek and I am a genetic counselor in Minneapolis, Minnesota. I received my undergraduate degree in Biology from Luther College and attained a master’s degree in genetic counseling from the University of Alabama at Birmingham.
The purpose of this website to provide reliable and up-to-date information regarding a variety genetics related topics explained in easy to understand language. If there is a particular genetic disease or concept that you would like me to discuss please let me know. If you are a genetic counselor and would like to contribute to this website feel free to contact me.
Disclaimer: This website is strictly meant to be informative. Any content is not meant to replace medical advice, diagnosis, or treatment. If you have medical concerns please consult your own physician or qualified health care professional.
Genetic Counseling 
Hi my name is jennifer and I am 17 weeks and 5 days pregnant. I received the results of my quad test and tested positive for Down syndrome. I am a healthy 29 years old. The doctor said my chances are 1:266 but with my age factored in it would be 1:716. I was hoping you could give me some input on this data as I am extremely upset and worried to receive the results of the amniocentesis which take 11daus
So I’m a little confused on your results, but I think I know what’s going on. You have an age related risk of 1:716. This is the risk you start at without considering the quad screen test. After the quad screen, your risk for Down syndrome increased to 1:266. Most labs have a cut-off of 1 in 270 for a “positive” test. So you just barely screened positive. Certainly the most likely situation is that the baby does not have Down syndrome. Another way to look at 1:266 is a 0.004% chance. Or of 266 women in your situation, only one will have Down syndrome.
I’m assuming you had a second trimester ultrasound as well. Most babies with Down syndrome will have an identifiable ultrasound difference (or multiple). If your ultrasound was normal, the risk for Down syndrome would at least be cut in half. SO down to 1 in 532. If this is the case I would certainly consider you at low risk. Regardless, it’s hard not to feel some anxiety. Hopefully the amniocentesis will come back normal and you will get some reassurance.
Hi! My story is much like the one above. My name is Jennifer, I am healthy and 29 years old. I am 18 weeks and 4 days and I have received a high risk diagnosis of Trisomy 21 from the Panorama blood test. I haven’t been given much information at all and wanted to know if this definitely means my child has Down Syndrome or if I am at a higher risk. I have been researching the test and it has only been on the market since March 2013. It has high accuracy rates but I am still weary of a test that doesn’t have any babies born who were tested in “real life”, outside of their laboratory. I was hoping you would give me your thoughts on this. Thanks!
It is certainly a high likelihood, although it’s not definitive. It is possible to have a false positive. If there are ultrasound markers for Down syndrome it makes it even more likely. An amniocentesis can provide a more definitive answer, but that’s certainly an optional test.
Hope that helps!
I am 37 and recieved a positive result for trisomy 13 in my early blood screen test and my nuchal translucency measurement was a 3. I am a carrier for Beckwith wiedemann syndrome ( 11p15.5 has microdeletion in H19)and have two children with it. I never had any tests done during their pregnancies to compare to this one. So I have no idea if BWS could cause these results. Can this syndrome cause false positives for another? Could my blood test have messed up the results? My case is so rare I can’t seem to get any information.
The screening test you had takes into account both the blood draw (protein measurements) and the nuchal translucency measurement. I am not aware of any cases of which Beckwith weidemann would alter the protein measurements, but I can’t be certain. However, Beckwith weideman syndrome can be associated with an increased nuchal translucency. Regardless, this test does not provide any definitive answers. I would talk to your physician about options for follow up testing.
Thank you for a quick response. I’m scheduled for a amniocentesis this friday. Hoping for more difinitive results and a better outcome for our little girl.
Hi! Can you help me understand my testing results? I did the Sequential Screen. Had the NT and blood draw at 11 wks. and all appeared normal. I took the Maternit21 at 13.5 wks and the results came back negative for all 3 trisomies. I had the 2nd blood draw for the sequential screen at 16 wks. and they just called me to say “I tested positive for downs.” I’m confused. I thought the screening just gave you odds, but that the Maternit21 is more reliable? They want me to see a genetic counselor and have a level II Ultrasound. I’m 41 and I have a beautiful daughter with Down syndrome, hence the “high risk” category. Thanks!
The screening test does give you an odds for the tested trisomies. But it will also be labeled as positive or negative. A “positive” result just means the risk was above the labs determined cut-off. For example anything above a 1 in 270 chance could be considered positive. However, a normal Maternit21 test would drop the risk significantly. A normal level II ultrasound would also be reassuring.
Awesome! Its really awesome piece of writing, I have got
much clear idea on the topic of from this article.
I was wondering does the harmony test give you a positive and neg for Down syndrome or a ratio like the quad. I tested 1-26 on quad I am 35. I just had the harmony screen done but was hoping I will get a ratio risk with it? I just didn’t know how results were given with this test
It will say “high risk” or “low risk”. If it is a low risk result, it will be reported at a risk of <1 in 10,000.
HI
I have a woman in my care who is 41 and had a “low Risk’ nuchal, she was then asked to have the NIPT by her OB. That came back as >99/100 chance her baby has T13. She has since had a very normal morphology result. This is a very confusing picture to me. Her baby is now 32/40 appears to be growing appropriate for gestational age and FHR on doppler appears normal and normal FMF by mother. She declined an early and late term amnio as she feels what will be will be. What are your thoughts
Kind Regards
Allison
Registered Midwife/Registered Nurse
The NIPT test is certainly just a screening tool. Based on your patients age alone, the positive predictive value(chance that it is a true positive result) is only 57%. So if the baby has had normal growth and a normal anatomy scan, the risk of T13 would be very low!
Hi
I’m pregnant and my baby has an omphalocele. We’ve already had a CVS done which ruled out trisomy 13, 18 and 21, but we haven’t yet received the results of the full karyotype.
The nuchal translucency measurement was normal (1mm).
If this is an isolated omphalocele what is the risk of having a child with Beckwith-Wiedemann syndrome? The omphalocele measures at 12weeks was small (1mm) and was assessed to possibly only contain intestines.
Thank you for your help!
For an isolated omphalocele with normal chromosomes, the risk for BWS is about 10-15%. Although at this gestation, we don’t know if it’s isolated or not because it’s too early to get a thourough evaluation of the baby’s anantomy. You can order a specific test to look for BWS, but this can be a challenge on a CVS sample, so an amniocentesis might be required.
Dear Jamison Beek
I have written you before about my situation. I am currently 16w2d pregnant. I have had a scan that ruled out other issues with for instance the brain, heart and lungs but the omphalocele is still there. I was previously under the impression that my child’s omphalocele was small, however the doctor has informed us that the omphalocele is large and contains most of the liver as well as the intestines. I know that the risk of having a child with BWS is higher if your child has a small, intestines-only omphalocele, but how is the risk for a large omphalocele containing liver? Is it still 10-15%?
Thank you for your help in this distressing time.
Becky