GENETIC?

WHat does it mean to have a fetus with a nuchul fold at 4.3 when it's supposed to be 3.0 at 11 weeks and 5 days pregnant? My doctor told me NOTHING, and I am nervous that something may really be wrong with my unborn baby!

[eureka254]

Nuchal fold measurements are not diagnostic, and an increased nuchal measurement is not conclusive for determining whether there is something 'wrong' or not with baby.  The 'normal range' for nuchal is an expected measurement of 3mm or less, but just because a baby has a larger measurement does not necessarily mean something is wrong.  

There is an association with increased nuchal measurements and a higher incidence of heart defects, Down syndrome, and other conditions, but just because your baby has an increased nuchal does NOT necessarily mean there will be problems.  Many babies with increased nuchal early in first trimester have no apparent problems at delivery or in later development.  

Did your OB do blood testing (screening) along with measuring nuchal translucency?  Has your doctor recommended you to genetic counseling?  If you have a high level of concern about conditions associated with increased nuchal measurement, your doctor may offer you the option to have other testing (i.e. chorionic villus sampling or amniocentesis) to determine whether or not baby has a chromosomal abnormality; your doctor may also recommend that you have a fetal-echocardiogram (an ultrasound to look at baby's heart) in the second trimester to make sure baby has appropriate cardiac development. Hope that helps, and best of luck. ~eureka

[Dragon1973]

Hello JaimeLynn522,

One thing to add which is very important when dealing with NT measurements is every location world wide has different ranges for what is considered normal or under before it is considered a risk.  So, please note when you ask outside of here or a doctor for example friends or family, who might be quick to say that 3.0 mm is high or not, an example is in Canada (Ontario specifically) 3.5 is our high end of the normal range.

Eureka is quite right when she says that it is not a diagnostic tool and is only used often as an indicator as to whether further screening or testing should be considered.  NT measurements by themselves are not even to be considered problematic unless correlated with other tests such as the high level IPS (integrated Prenatal Screening) Ultrasound.  In the absence of other tests, the NT scan measurement should not be used singularly to determine risk.  Another example on the other side of the coin is, a normal NT reading is also not indicative of a typical baby either.  (This example is true for many and for my first son who had a normal measurement and blood screen yet had Down syndrome.)

NT measurements and other screening test do help doctors assess whether there is an increased risk for Down syndrome, (and other Trisomy's), Spina Bifida as well as other health concerns.  Also, NT measurements can not be obtained after 14 weeks gestation since the Nuchal Fold (liquid and fold in the back of the neck) will dissipate fully after that time frame.  So if you are wondering if future NT measurements can be taken after this period of time, the answer would be no, not for screening.
The best time frame to have an NT measurement taken is anywhere from 11 to 14 weeks with 12.5 weeks being the most effective timing.  Also, there are things that you can consider also with measurements.  One, each technician can have minute measuring differences (which a formula is used to combat that issue), timing of the gestational age can also be inaccurate, (not often but can be an issue if dating is not really known) and again having mentioned before - world wide the median measurement is different state to state, area to area, country to country.  So there are a lot of factors that go into NT measurements and for this reason alone, I try to explain to mom's not to put too much stake into the measurement on it's own.  If you are worried, you should ask your OB or doctor to refer you to a genetic clinic, or for further testing.  But please remember, screening is only a method to determine the odds and if further testing should be done.  The only way to absolutely know if there are any chromosomal issues (of the most common issues anyway) is to have definitive testing performed which are, Amniocentesis (not done earlier then 16 weeks) CVS (not done before 9 weeks) or PUBS.  These are invasive tests which will test the cells and allow a chromosome analysis to be done.  Note though, these tests only search for the common more likely chromosomal abnormalities and can not rule out other less common or rare issues.

I know first hand how stressful and worrying this is, especially when you want for your child to be healthy and fine.  I do happen to have a list of markers for the common chromosomal abnormalities such as Down syndrome, Trisomy 13 & 18 if you wish to have it.  While it is useful to know for when you have your 18-20 week ultrasound or high level ultrasound, note that it is possible for a baby without any chromosomal problems to have markers too.  Please message me directly if you wish me to send it to you.  If you have any other questions about prenatal testing, please let me know.  

If you find that you need more extensive help with chromosomal questions again, please do not hesitate to ask.  There are a few of us here who have very good information that can be very helpful in that area.  "Eureka", "Cead" and "Dragon1973" (myself).

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;
MTHFR Group Forum Founder/Moderator;
Pregnancy: June 2011 Community Leader

[Fairymle]

Thank you for putting this info online. If the false positive rate is 5%, what is the positive positive rate?

[Fairymle]

Thank you for putting this info online. If the false positive rate is 5%, what is the positive positive rate?