Sequential Screen and False Negatives?

Hello Womyn

I have had my sequential screen results returned to me...my Down's risk was 1:7,000, T18 risk 1:10,000, NTD risk 1:1,500.  The baby had an echogenic focus in the heart (EIF) at the 20 week scan, but I was assured this means nothing considering my numbers, which both the doctor and the tech said were "great".

My question for you all is:   How seriously can I take these numbers?  I know the sequential, or integrated, screen has a 92% accuracy rate.  Which I assume means that 8% of women who get good numbers in fact have a baby with Down's or another problem.  How can I tell if I might be in that 8%?  Would my numbers be a lot worse (I am 30 and was told these are excellent numbers to see on the test)?  Maybe the 8% are closer to the 1:500 range; that is, closer to the cutoff for an amnio.  Or is it a total shot in the dark?  Can somebody with a 1:7,000 risk, as assessed by the screening, have a child with Down's?

I am nervous about this, because of the EIF, but also because I always seem to fall into the small percentage category (like, my blood type is not only negative, but also the rarest type on the planet).  Since my numbers were so "great", I'm not being offered a meeting with the genetic counselor, let alone an amnio (which I don't really want anyway).  Please, somebody let me know what the deal is with this.

thanks a million,

Taffy

[martikadragoon]

Taffy~ your screen indicated great odds for you. Combined with ultrasound I'd say that you baby is healthy.

MANY children show an EIF  and are fine. My 2nd son showed an EIF on his heart and was born healthy and typical. my firstborn has down syndrome.

If you were in that %8 the ultrasound would most likely indicate more soft markers, and descrepencies in the femur length, head and abdomen measurements.

Personally.... I understand when you said you fall in that category, I do too. I was 21 when my son was born, he inherited my rare skin disorder which was a %50 and he had 3 holes in his heart requiring open heart surgery. he had a SUPER rare reaction where his chest bone didn't change from cartilage to bone and he ended up on life support and in the hospital for 3 months with an open chest.

Your baby sounds healthy, they can keep an eye out for any other soft markers and they'll let you know if they find any. Usually a baby with DS or a trisome has more than 1 soft marker.

[Dragon1973]

Hi Taffy

Martikadragoon is right about your odds being really good.  I also wanted to add, that for myself, I was given odds of 1:384, for my age of 35 at the time.  My odds never increased or decreased by my ultrasounds, and it wasn't until after I had my Amniocentesis that I learned our son had Ds.  It wasn't until my 20 week scan that they saw the EIF either, but that is all they saw.  I didn't have other "soft markers" so it is possible to have only one marker that shows anything, and yet have a baby with Down syndrome.  
It is also more likely to have false positives than false negatives so in that case things should be fine for you.  There is a near 15% false positive rate for IPS tests and that can drive many mom's absolutely crazy.  If you would like a list of possible soft markers to look out for, here are some:
Low, flat or absent nasal bone, Fetal Renal pyelectasis, ventriculomegly (fluid in the open spaces or ventricles of the brain), low set ears (if distinguishable on a 3D4D ultrasound), shorter than average long bones like the femur or humerus bone (usually dating 2 weeks to 3 weeks behind what it should be for the gestational age  - but this one usually doesn't present until weeks 30 or more.) Shorter finger and toe lengths, Echogenic Intracardiac Focus (or EIF - bright spot on the heart) for this, having and EIF alone is usually absolutely normal unless coupled with other markers and shows up in typical developmental children all over the world, ASD,VSD, PDA etc (which are holes in the heart - also common to typical children all over the world - so also unless coupled with other markers can be a normal congenital heart defect.) Thick measurements for the Nuchal Translucency scan - but this can also define other chromosomal problems, not just Down syndrome - but is mainly used to assess risk for Ds.
So as you can see, there are a lot of other "soft markers" for you to look out for or ask about when you have your ultrasounds.  I would be upfront with your technician and mention you are interested to know if she/he sees any of these, because often times, many techs do rush unless they know they may be dealing with a case of Ds.  I felt that it happened to me with my first born, and that is why they never "saw" anything until after I had my Amnio at 16 weeks.  Nothing had prompted me to have an amnio other than my age, so we were "shocked" (not unhappy) to say the least that I was the 1:384!  Of course now we are tickled and so very happy that we have Hunter, a truly handsome, smart and healthy baby boy who is developing typically and ahead of schedule!  
I hope if you have any other questions at all, you wont hesitate to ask me, my door is always open!
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 Down syndrome Community Leader
& Ds Group Forum Founder/Moderator