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3 Bumps

Genetics Counseling?

My blood work came back abnormal for down syndrome for my baby and my doctor referred me to a specialist for genetics counseling. What should I expect when I go for Genetics Counseling? Are they just going to tell me my odds of her being born with downs? They are also going to do another ultra sound but how can they tell through the US that she has downs or doesn't? The lady that scheduled my appointment couldn't answer these question, she said the purpose of the appointment was to answer these questions. I don't want to go if they are just going to talk about her statics.

Answer Question

Asked by aheuszel at 9:36 AM on Jan. 21, 2011 in Pregnancy

Level 17 (3,855 Credits)
Answers (9)
  • There are markers. The length of the femur (I think) is one.

    Answer by TARARENEE at 9:38 AM on Jan. 21, 2011

  • Also the humerus and * Nuchal Fold Thickening. A measurement of 6 mm or greater from the outer skull to the outer skin line at the posterior fossa signals increased risk. About 40% of Down syndrome fetuses display this marker on second-trimester ultrasound.

    Answer by TARARENEE at 9:40 AM on Jan. 21, 2011

  • Take a deep breath and go to the appointment. Those are the professionals. We are just regular people here. You need to talk to the people who have accurate information. The test you took was just one. They will likely want to schedule you for an amnio. They will probably take a small amount of amniotic fluid and check the DNA of your baby. However, the only way to be certain of what they want is to go to the appointment.

    Answer by Marwill at 9:40 AM on Jan. 21, 2011

  • When they do a Level 3 ultrasound, they take measurements of the baby - I believe the length of the femur bone is a good indication of Downs. I had this type of US done because of placenta previa and my age (37 at the time). It took about an hour. Good luck to you!


    Answer by Scuba at 9:40 AM on Jan. 21, 2011

  • normally they do a whole family history as far back as you know and they may if you allow a amniocentisis or other genetic tests. they will also talk to you about the results and the risks if any of the pregancy. its differ for everyone on how they go about it. and they will also put you at a high risk pregancy as well if they question downs syndrome.

    Answer by laura970 at 9:42 AM on Jan. 21, 2011

  • I went to genetics counseling with my last 2 babies, because I was going to be over 35 when I had them. They went through my husband and my background, as far as any health conditions, etc. that were present in our family. They also did a level 3 ultrasound where the measured the nuchal fold and a couple other things and then took a blood sample. They called me a couple of days later and said that I didn't have any of the "markers" for a down's. Doesn't mean by baby absolutely wouldn't have it, just that there were no signs of that being the case. If the drs think there might be a chance, they will most likely want to do an amnio.

    Answer by missanc at 9:45 AM on Jan. 21, 2011

  • I've already decided I'm not doing the amnio. I'm ok if she has downs because my brother has downs I just don't want some doctor I don't know telling me I have options and these are my statics of her being downs and so on and so on. I just want to do the US and know yes or no so I can get my boys ready and my husband.

    Comment by aheuszel (original poster) at 9:46 AM on Jan. 21, 2011

  • Like others have said the genetics counselor will assess the situation based on the test results and family history. These statics come from the triple screen you had and using ultrasound markers. The onlywau to know for sure is to do an amino

    Answer by mtnaspen at 10:18 AM on Jan. 21, 2011

  • I would go.

    Answer by LiLJeni at 10:49 PM on Jan. 21, 2011

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