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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Without Doing Amnio Testing What Is The Chance Of Having One Of The Thread Trisomys And A Rough Severity With These Measurements?

Hi, I'm a 23 year old mother to one currently 21 weeks pregnant with our second. Both pregnancies I have opted not to have the nuchal screening at 12 weeks. At 20 weeks we had our anatomy scan which all was looking fine until the nuchal fold was measured which came back as an alarming 10mm thickness. I was called by my hospital that afternoon that I would have to be seen by a specialist who redid my scan and confirmed the measurement to be that of 10mm and that it should be no more than 6mm. My question here is without doing my amnio testing to know for sure what is my chance of having one of the thread trisomys and a rough severity with these measurements.
Tue, 18 Feb 2014
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OBGYN,  's  Response
Hello
Thanks for writing to us with your health concern.
Yes, at 12 weeks, 10 mm is quite alarming for the measurement of the nuchal fold.
Without having an amniocentesis, it is impossible to give you the exact figures and percentages, or to calculate the likelihood of your having a baby with the Trisomies.
A raised nuchal fold is not just suggestive of Down's syndrome, but it also can indicate various other chromosomal anomalies.
It is imperative that you should have amniocentesis with this nuchal fold thickness, it is quite out of the range of normal.
ALso, another option is to have non invasive testing such as Harmony / Panorama, these tests are also upto 99 % reliable in picking up chromosomal anomalies.
Continue taking folic acid supplements.
Just based on the nuchal fold thickness it is impossible to calculate the odds of your child having any abnormality.
Further testing, invasive or non invasive is definitely warranted.
Do not ignore this measurement of nuchal fold thickness .
Consult a Fetal Medicine expert and have evaluation of your odds and available testing and therapeautic options.
All the best.
Take care.
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Without Doing Amnio Testing What Is The Chance Of Having One Of The Thread Trisomys And A Rough Severity With These Measurements?

Hello Thanks for writing to us with your health concern. Yes, at 12 weeks, 10 mm is quite alarming for the measurement of the nuchal fold. Without having an amniocentesis, it is impossible to give you the exact figures and percentages, or to calculate the likelihood of your having a baby with the Trisomies. A raised nuchal fold is not just suggestive of Down s syndrome, but it also can indicate various other chromosomal anomalies. It is imperative that you should have amniocentesis with this nuchal fold thickness, it is quite out of the range of normal. ALso, another option is to have non invasive testing such as Harmony / Panorama, these tests are also upto 99 % reliable in picking up chromosomal anomalies. Continue taking folic acid supplements. Just based on the nuchal fold thickness it is impossible to calculate the odds of your child having any abnormality. Further testing, invasive or non invasive is definitely warranted. Do not ignore this measurement of nuchal fold thickness . Consult a Fetal Medicine expert and have evaluation of your odds and available testing and therapeautic options. All the best. Take care.