Anyone know about this test?

a co-worker of mine told me about a recent experience with her sister. she was 12 weeks pregnant and went in for a test to see if the baby will have down syndrome. i cant remember the name of it, but it wasnt a amnio. the doc measures the amount of fluid in the sac, through an u/s, and then if its not in the right range, its considered abnormal. from there you go to a geneticist??? to get more testing. she said fluid was drawn vaginally from the sac, and came back positive for trisomy 13. she said this is a new test ran at 12weeks regardless of your age. in turn they gave her the option to abort, and referred her and her husband to get there genetics tested. has anyone heard of this, and if so what is the name of the test. will you have to request this, or is it routine at 12 weeks?

thanks in advance for any info ladies!

[shesherm]

It sounds like the nuchal (NT test) yes it is suppose to be done before 12weeks 6 days.  I asked my DR office about it yesterday and they said it wasnt done until 16 weeks....so I;m guessing maybe it is so new they didnt even know about it for sure....I am gonna ask the DR at my appt on Friday

[dbestone]

thanks for the info

[dbestone]

now that you gave me the name, i just googled it. its a test performed between week 11 and 14 of pregnancy. it measures the amount of fluid behind the neck of the fetus. more fluid normally indicates babies with abnormalities. in turn, they compare it to the gestational age of the baby and determine if your high risk for your baby having a chromosomal defect. if it comes back positive, it only means theres a chance, and further testing is done. this test is 80% accurate for downs.

[2ndBaby]

The nuchal translucency test/measurement is part of a test that my Dr. called First Trimester screen.  The measurement alone is not enough-there is also bloodwork that goes along with this and it factors in the mother's age at the time of birth.  It measures for Trisomy 13 and 18, as well as markers for Down's Syndrome.  As part of my test, the FIRST thing we did was meet with a geneticist who took down family history, explained the tests and what they were looking for, etc.  Then the u/s tech did her thing, the perinatologist came to confirm NT measurement, and then I had the bloodwork done.  About a week later the geneticist called me with the results.  My test results showed a major decrease in the chance for Trisomy 13 and 18, and an increase in the chance for Down's.  She then went through the options for me...I could've done amnio, but I chose to wait until week 20 for the level II u/s, done by the perinatologist.  She measured everything about the baby, and the results, while not 100%, seem to indicate the baby is OK.

[wonderme]

I believe the test you are referring to is the CVS test (chorionic villius sampling).  It is similar to amnio BUT can be done much earlier.  It samples the villi of the placenta which contains embryonic cells.

It is my understanding that it IS a conclusive test.  She should see the geneticist for confirmation and to be given the various options.  Unfortunately it is also my understanding that trisomy 13 (and 18) has a high mortality rate if the baby survives to birth (a year or less).

If, on the other hand, she did the nuchal fold screen test -- U/S measuring baby's nuchal fold and blood test -- this is a SCREENING test only.  While it has fewer false positives than other screening tests, it only tells you if you are at an increased risk.  If so, then you can follow up with further, more invasive (and more conclusive) tests.

Either way, she should follow up with the geneticist.  I will pray that everything is okay.  Good luck.

[dbestone]

glad things turned out well for you. thanks for the shared info.
best wishes!