Genetic screening in 1st trimester.

No there was no genetic testing in 12th week for me. With my first child too it was done in 15th week. Thanks and Good luck.

 

I too have a NT ultrasound scan scheduled in 3 days,I am 13 weeks and I am definately a little tensed,but what if everything turns out to be good and normal then we can be happy right,so I am going for the test anyway.Let us be positive.Good luck.

 

hi khushi,
hearty congrats..
im into my 8th month now. and during my 12th-13th week even i was told and took the scan. my gynaec in india here called it FTS (first trimester scan). as u mentioned, it included a blood test and an ultra sound. its a scan for chances of downs syndrome in the featus and 95% of the time its accurate.
so i would suggest you to definitely go for it. its always better to be safe than sorry. nothing to worry as its harmless. u are only going to benefit by knowing abt the health of the baby.. so relax and surely get it done..

all the best!
cheers!

 

the nuchal translucency scan / blood test is done in the 11th/12th week and is considered more reliable than the AFP screen which is done in 16-20 weeks. If your insurance covers the nt scan go for it definitely as the chances of false postive is way lower than the afp screening.

 

Hi Kushi,

First of all, how old are you? Generally speaking, an NT (Nuchal Translucency) scan is usually only recommended for women:

(1) who are or will be at least 35 years old at the time of conception or delivery, or,

(2) who have previously had a child with a chromosomal abnormality, or,

(3) whose maternal family has a history of children born with chromosomal abnormality, especially the Trisomies of 13, 18 and 21.

If you do not fit into any of these categories, then many physicians will not ask you to consider the NT scan at all.

Based on the results of the NT scan, a patient usually has to undergo more invasive testing to either confirm or rule out the actual presence of an abnormality in the fetus. What this means is that the NT scan is just a SCREENING test. The only tests that will tell you for sure if your baby is genetically perfect or not, is the more invasive chorionic villus sampling (CVS) (usually done no later than Week 13) and amniocentesis (usually done between Weeks 17 to Week 22). Many times, an NT scan is performed around Week 11, which means that you will have to immediately do a CVS (if that is your choice) or wait about 4 to 6 weeks to do amniocentesis, if the scan results indicate a potential problem.

Here is where the problems start:

If the NT scan results come back normal, then all is well and you go on your merry way.

If the results indicate a problem (and given Murphy's Law, they quite likely will), then you have two thankless options.

(A) Opt to not do any further testing, worry / stress out about the baby for the entire remaining duration of the pregnancy, and only know about your baby's genetic status at his or her birth (at which point of time it is too late to change anything).

(B) Opt for invasive testing - which despite a small but certain rate of miscarriage - will let you know about your child's genetic status for sure immediately (and prior to the birth), and either set your mind at rest or allow you to make decisions about your ability and willingness to carry and raise a child with special needs.

Say you go with Choice (B). Based on who you ask or what journals you refer, CVS has a higher rate of miscarriage than does amniocentesis, even when performed by very experienced doctors. However, it is not as if amniocentesis is completely risk-free. This is the case even if you are carrying a healthy fetus. So, you may end up losing a healthy baby just from the amniocentesis or CVS! See how horrible and thankless it gets?

Many women do not want to risk CVS and opt to wait until Week 17 to do the amniocentesis, while in contrast one can immediately take the CVS following abnormal NT scan results. These intervening weeks - between the time of the NT scan result and the final confirmation / denial by the amnio - can be living hell. I kid you not, you do not want even your worst enemy to undergo that mental torture. I went through it and my stress & depression went out the wazoo and I am sure that being drowned in the very high levels of my stress hormones wasn't too pleasant for my little one, either.

I would hate for you, or for anyone else, to experience the same thing, too. Another problem with waiting so long (until Week 17 or 18) to find out about your baby's status is that if results come back indicating a fetus with Down's Syndrome or Trisomy 13 or 18, and you wish to abort, then you have to undergo a late trimester abortion and any miscarriage or abortion after Week 18 is considered Labor & Delivery! It is not just a simple D & C as by Week 18, your child is big enough to delivered vaginally or by c-section, even if s/he cannot survive outside the womb. On the contrary, if you risked the more risky CVS at Week 11, and the results indicated fetal abnormalities, then it is still considered a first trimester termination of pregnancy. You may wish to keep your baby regardless, of course, but this is the gamut of (heart-breaking) choices that women in this situation face.

Bottom line: Unless you, for any reason or by virtue of being a 'high risk' patient, must be tested, then please waive the NT scan, CVS and amniocentesis. If you must know, then please opt to straight away have the CVS or the amniocentesis, which will tell you FOR SURE if your baby is normal or not. The NT scan does nothing - it does not give you a yes / no answer, it just indicates the probability that your child has an abnormality and adds to your stress. For all the risks they carry, CVS and amniocentesis at least give you a straight answer.

If I had to do this all over again, then this is what I would do. I would never put myself and my unborn baby in the agony that I endured between the time of the preliminary NT scan and the time I got the results of my amniocentesis. Mine had a happy ending - my child is a healthy, happy infant, but it still does not eliminate the suffering I endured during those dark days when I should have been enjoying what, was, most certainly my very last pregnancy.

JMO, and good luck!

 

Hi jhalli,
thanks for your advise. yes i have also been advised for the same test.
I callled the genetic screening doc today and he would advise me further on the same.
your reply made me feel relaxed and positive. thanks,and all the best for your pregnancy
cheers

 

thanks a lot
your advise helped.

 

hi ,
thank you for your detailed reply.
im 29 and i have not been advised the NT/ CVS test. ..just a blood test and ultrasound. im sorry to hear abt your bad experience and thanks for sharing it ..it helps all of us on this forum to be pre informed.
happiness to you and your child.

 

congrats and good luck to you as well

 

Congrats on ur pregnancy.
Even my gyn told me about this test which is optional. But since insurance was covering all the cost we opted for this test. This test was done was to me during the 12th week and everything was normal with the baby.

I would suggest you to do the test esp if insurance is covering everything.