Nuchal Scan

[beautifulgirls]

Good afternoon everyone.  I had a quick question that I was hoping I could get your thougts on.  Yesterday I had my Nuchal Scan and the fold measurment was 1.3 at the highest, and the nasal bone was present.  Next they proceeded with the blood test.  From what I understood the nuchal scan was good but there was a chance that the blood work could still be bad.  Can one out weigh they other? How often do they come back with opposite results?  and what has happened in the past with you?  I would like to hear your stories. Thanks in advance.

[April162010]

blueyes34 : Hi, Please help me to understand
1/16 was your nucal measures   or

1 of 16 of problabilities that you would have a baby with SOD?  if it was 1of 16 you knew your baby has Sod ..right?

[Dragon1973]

Hi Beautifulgirls,

I wanted to also pass on information to you.  Just as others here have commented about false positives, there are also times where false negatives exists.   while most often, correlating NT scans with Ultrasound findings of a nasal bone (for example) can be an accurate result when speaking directly about decreased odds, there are examples of when both together - normal measurements and nasal bones present do not accurately present the odds given.  I was 35, with maternal odds of 1:385.  Nothing suggestive of an increase after both those tests.  And yet, because of my age I opted for an Amniocentesis.  When both the NT result and ultrasound (which were normal and nasal bone not only present but not flattened or broad) were in normal limits, imagine our surprise to learn our son's karyotype was positive for Down syndrome.  There are 3 different types of Down syndrome, (you can find those different types listed on my group forum for Down syndrome) but 95% of all cases of Ds are random, as was my son's.
There was mention that 40% of all blood work for chromosomal abnormalities will read false positive, but I don't think they are as high as that.  (Only based upon my Genetics Counsellor and High risk doctor's who I work with in Prenatal diagnoses for chromosomal abnormalities.  (I am a parent guide for other parents who receive prenatal diagnoses of chromosomal issues.)  
My message to you is, as that post did indicate, the only effective way to determine an abnormality within genetics is to have either an Amniocentesis or CVS - both of which are considered invasive testing and do carry a small risk of miscarriage (0.5% on top of regular risks.)
Also, the important thing to note, is whether the results for the scans are in normal limits for the gestational age.  This is sometimes overlooked, because testing for NT is usually done between 11-14 weeks for the most accurate results.  Anything outside of that time frame should be considered potentially and likely inaccurate.

There are additional "soft markers' which should be examined in all ultrasounds (specifically for Down syndrome) if there are concerns for any genetic abnormality.  If anyone is interested in this list for their own personal information, please do not hesitate to message me directly.

I am also available to answer any questions relating to either genetic testing or questions regarding Down syndrome.  I have answered many, many questions on these topics because of my experiences and knowledge both professional and personal.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[beautifulgirls]

Thank you everyone.  I am so nervous, I can't sleep and even think at times.

[Cdotterhami]

40% of blood tests will read a FALSE positive for congenital abnormalities. If in doubt... You're better off with an amniocentesis.

[SabrinaB39]

Just had my NT test and I also measured at a 1.3 and nasal bone present. I wont get the final results for 2 weeks but everything looks pretty good.

[SabrinaB39]

When my husband and I were deciding on getting pregnant again we agreed to not continue the pregnancy if there was DS or other deffects but now that we are 12 weeks in there is no way we could go through with a termination. I could not live with myself and it would hurt our entire family.  We will take it one day at a time.  At least this early we will be able to research and learn what we will need to do as parents before he/she is born.

Your baby is beautiful.  Congrats!

[blueyes34]

At all of my ultra sounds everything looked great.  None of the traditional markers appeared.  When they did the bloodwork, the result was 1:16 for Down Syndrome.  My little Munchie was born May 27 of this year at 34 weeks.  He does have Down Syndrome but I wouldn't trade him for anything.  I've got some of his pics posted on my profile.  I think the only way to be 100% sure is to get the amnio done.  I know it's stressful, it's a rough waiting period.

Keeping you in my thoughts,

Take care

[WannaBMamma]

I had my nuchal scan yesterday. From I was told the combination of the two test (blood and US) provide them with a percentage that indicates the likelyhood of problems.  My blood work came back with GREAT numbers like 1:64,000 on one and the others were great too- to  be honest when they were telling me the numbers I really didn't understand what they represented but the MD said they were really good and that there was no chance of problems.  He did say that the US looked really good for both babies.  I still have to go back in 4 weeks and redo the tests.  

I can't wait to talk to my OB on 7/13 to go over the details of the test.  

[SabrinaB39]

I have myne tomorrow. From what I have read anything under a 3 is good for the fold. 3-6 is iffy.  My OB's explanation is they take the measurements and the blood test together and give you a % of having a defect. Look furth on this board. I'm sure you will find more info.