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Is 1 In 282 A High Risk Of Down Syndrome?
Question: My provider called me yesterday said: the part of test NT and NTD labs result is high risk -1in 282. I am worry about it .Now, I am waiting for my scond test - Panorama test result .Do you think i need to take CVS test ? Thank you!
By the way ,she said Down syndrome is high risk . I don't have specific data yet like paper report.
By the way ,she said Down syndrome is high risk . I don't have specific data yet like paper report.
Brief Answer:
Doing CVS test is justified.
Detailed Answer:
Hi XXXX,
Thanks for writing in to us.
I have read through your query and understand your concern for the unborn baby being normal.
NT test is Nuchal thickness and measured on ultrasound.
NTD is neural tube defects and tested by doing biochemical estimation of free Beta hCG biomarker, along with PAPP-A.
The above tests estimate a risk of 1 in 282 for your pregnancy.
Panorama test is a Non-Invasive Prenatal Test (NIPT) that calculates score for risk of baby having Down syndrome and other genetic conditions caused by extra or missing genetic information in the DNA sequence of the baby. This test has an accuracy that is high but results can be questionable at times and rarely there have been inaccurate results.
Keeping the rare possibility of above tests showing inappropriate results, it is always better to do the chorionic villous sampling test (CVS) and confirm the results.
The cut off point in a 37 year old mother for further CVS test is reasonable and acceptable.
Hope this answers your question. Please feel free to correct any oversight in my interpretation of your problems and discuss them in detail as per your requirements.
Hope your query is answered.
Do write back if you have any doubts.
Regards,
Dr.Vivek
Doing CVS test is justified.
Detailed Answer:
Hi XXXX,
Thanks for writing in to us.
I have read through your query and understand your concern for the unborn baby being normal.
NT test is Nuchal thickness and measured on ultrasound.
NTD is neural tube defects and tested by doing biochemical estimation of free Beta hCG biomarker, along with PAPP-A.
The above tests estimate a risk of 1 in 282 for your pregnancy.
Panorama test is a Non-Invasive Prenatal Test (NIPT) that calculates score for risk of baby having Down syndrome and other genetic conditions caused by extra or missing genetic information in the DNA sequence of the baby. This test has an accuracy that is high but results can be questionable at times and rarely there have been inaccurate results.
Keeping the rare possibility of above tests showing inappropriate results, it is always better to do the chorionic villous sampling test (CVS) and confirm the results.
The cut off point in a 37 year old mother for further CVS test is reasonable and acceptable.
Hope this answers your question. Please feel free to correct any oversight in my interpretation of your problems and discuss them in detail as per your requirements.
Hope your query is answered.
Do write back if you have any doubts.
Regards,
Dr.Vivek
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Thank you for your clearly answer. If my Panorama test is low risk ( negtive ) , do I need to take CVS test?
Brief Answer:
Panorama shows 0.7 percent false low risk results.
Detailed Answer:
Hi,
Thanks for writing back with an update.
Considering negative or low risk by panorama test, there might be a 0.7 percent of false negative results. That means out of 1000 mothers having a negative score on panorama, about 993 of their babies will be normal and 7 babies with a negative result can still have a genetic defect.
There is a counselling team to guide mothers before taking these tests and explaining the additional risks involved while doing CVS and similar tests.
The final call has to be taken by you and I assure you that CVS test if done properly, will have no adverse effects. Als CVS has a higher value than other tests which are done from maternal blood.
Hope your query is answered.
Do write back if you have doubts.
Regards,
Dr.Vivek
Panorama shows 0.7 percent false low risk results.
Detailed Answer:
Hi,
Thanks for writing back with an update.
Considering negative or low risk by panorama test, there might be a 0.7 percent of false negative results. That means out of 1000 mothers having a negative score on panorama, about 993 of their babies will be normal and 7 babies with a negative result can still have a genetic defect.
There is a counselling team to guide mothers before taking these tests and explaining the additional risks involved while doing CVS and similar tests.
The final call has to be taken by you and I assure you that CVS test if done properly, will have no adverse effects. Als CVS has a higher value than other tests which are done from maternal blood.
Hope your query is answered.
Do write back if you have doubts.
Regards,
Dr.Vivek
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Thank you so much!
Brief Answer:
Welcome
Detailed Answer:
Hi XXXX,
Thanks for writing back with an update.
Welcome and I am glad to be replying to your query.
Should you have any more health related queries and wish to have them replied by me then please quote your query Id 146644 and make a request to customer care for it to be directed to me Dr.Vivek Chail.
Regards,
Dr.Vivek
Welcome
Detailed Answer:
Hi XXXX,
Thanks for writing back with an update.
Welcome and I am glad to be replying to your query.
Should you have any more health related queries and wish to have them replied by me then please quote your query Id 146644 and make a request to customer care for it to be directed to me Dr.Vivek Chail.
Regards,
Dr.Vivek
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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