Maternal Screen 5 PENTA blood screen testing amniocentesis

Re: Maternal Screen 5 PENTA blood screen testing amniocentesis

• E&J7480

  January 2011

  I m not sure I will be much help to you however I choose to do a CVS which is like an Amnio but done earlier in pregnancy. Arround 11-13 weeks and they insert a needle vaginaly through the cervix and take a tissue samples (chronic villy) from the placenta. It was not apinfull at all. I have heard alot of moms talk about Amnio and from what I heard not painfull at all. The risk for mc  frpm Amnio vs the CVS are lower for Amnio. I belive the results are highly accurate for Amnio (IDK the precenage sorry) Also for either test you will talk to a genetic counselor and they will explain everything and they are supper nice. I dont know if this helps you but I hope it helps some. Dont be scared or nervouse everything will be great Good Luck.

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• sdlaura member

  January 2011

  The more recent research shows that fewer than 1 in 1,600 amnios end in miscarriage if performed by an experienced practitioner.

  Our baby was diagnosed with a serious heart defect at our anatomy scan that is highly correlated with down syndrome.  So even though our earlier screening and blood work had make us very low risk, we opted to get an amnio right away.  It really wasn't bad and I would do it again in the same situation.  Luckily, it came back negative for chromosomal abnormalities.  Obviously, it's a personal decision one way or the other, but we wanted to know for sure.  Now we need to find out more about the heart defect...

  BFP #1 9/2010 (lost our baby at 21 weeks) BFP #2 8/2011 (ectopic pregnancy) BFP #3 10/2011 (chemical pregnancy) BFP #4 12/2011 (Abigail born 8/15/12) BFP #5 5/2013 (Griffin born 1/23/14 with heart defects, now repaired!)

  
  

   

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• sdlaura member

  January 2011

  PS - amnio results take 7 to 14 business days to come back.  You can get a FISH test, which gives you amnio results for the four most common chromosomal abnormalities (down syndrome/trisomy 21, trisomy 13, trisomy 18, and sex chromosome defects) within 3 business days.  The FISH test was not covered by our insurance and cost us $190.

  BFP #1 9/2010 (lost our baby at 21 weeks) BFP #2 8/2011 (ectopic pregnancy) BFP #3 10/2011 (chemical pregnancy) BFP #4 12/2011 (Abigail born 8/15/12) BFP #5 5/2013 (Griffin born 1/23/14 with heart defects, now repaired!)

  
  

   

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• sculptress

  January 2011

  I will have to talk to my insurance and the doctor again to finalize everything tomorrow.  I'm not sure if my insurance covers it or not, but with the blood test results, they should cover it! The doc did say the results are back in one day so maybe it's FISH I'll ask all that tomorrow. THANKS

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• asl71476

  January 2011

  I went thru a similar nerve-wracking experience recently. NT scan showed perfectly healthy baby, and my bloodwork showed abnormalities. 

  First - I don't know how old you are. I'm 34. When I talked to my doctor (After I finished bawling, and had my head screwed on straight - I'm assuming that you, like me, only head the words "Down's Syndrome" over and over again!) she made a point to tell me that if I was 20, and I had the same blood work results, they wouldn't run any further testing. It was mostly my age that was raising my risk possibility. Keep that in mind.

  We were given what was considered an elevated chance of DS, which was 2%, or 1 in 50. We were scheduled for a level 2 ultrasound at 16 weeks, which we did. The baby looks great, but they needed me to come back at 18 weeks so that they could get a more accurate view of his heart. After my follow up appt last week, there were no physical markers for DS at all. They dropped my risk down to 1%. I was offered an amnio, but declined. This is my first child, and I'm choosing to focus on the 99% odds that he's perfectly fine. I just couldn't bring myself to do an amnio knowing that there was a chance - no matter how small - that I could lose him. But that's a very personal decision, and every woman feels differently.

  When speaking with my OB, she also made sure she drove home the point that it was her job to focus on the negative. They're in the business of finding something wrong. (I'm sure there's also some legal stuff in there too about informing me of any issues no matter how small). She said that in her opinion, it was more than likely that my son was fine, and that blood work has a false positive rate of 3-5%. After hearing that, I felt better.

  I know it doesn't make it any less stressful, but try to remain calm, and take it one step at a time. I know that for me, what I hated the most was that feeling like I was mourning the idea of a baby I might not have, and that took a lot of my happiness away for awhile. After speaking with DH and making the decision to go forward regardless of any negative news, I started to get that sense of excitement back again.

  Good luck to you!  

  

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• jjfan

  January 2011

  My second pregnancy ended due to a genetic defect and therefore my last pregnancy, with my daughter, I had an amnio. It was a little uncomfortable, but not anything you can't handle. (dd was totally fine, btw) That being said, ten years later, I am 35 and at 16 weeks was scheduled for the amnio again. I was petrified. The specialist I went to was wonderful. He told me that he could see 98% of neural tube defects (which is what my second pregnancy entailed) and 50% of downs via ultra sound. He also said that at my age, the possibilities of the DS blood work coming back with a false positive were much higher. Anyway, after the ultrasound, he said he saw no issues for neural tube or DS. We did the blood screening for the NTB, but opted not to do the blood screening for DS or the amnio. The amnio will give you 100% confirmation, but consider this: my specialist said there is nothing you need to do differently to prepare for a DS baby than you would for any other baby. Unless you plan to terminate, why risk miscarriage? All you will is stress yourself out. Enjoy your pregnancy, it goes by so fast. Good luck to you!

  

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• sculptress

  January 2011

  Thank you so much for your response.  I turned 29 in October so I'm not sure if that makes a difference or not.  Now I'm really contemplating the amnio though.  I am a complete worry wart though which at one point in my life lead me to irritible bowel syndrome so I still don't know what to do.

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• GoBadgers member

  January 2011

  If you want an amnio You should check with your insurnace company to see what MFMs or perinatologists are in your network, call around and schedule an amnio with one ASAP.  You should not have to wait until the 10th!  For you, it sounds like the anxiety is really affecting your day to day life, and an amnio might be the right decision.  A MFM or peri (same thing) usually has lower complication risk figures than a regular OB because MFMs/ Peris do amnios more often. 

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• stargzr77

  January 2011

  I screened positive for downs with my first trimester bloodwork and NT scan and went through with an amniocentisis at 18 weeks. My results were 1:165, the cutoff was 1:270 and based on my age alone my risk was 1:330. My results were higher based on a slightly elevated NT and bHCG. We had a level 2 ultrasound at 16 weeks and they discovered CPCs (Chroid plexus cysts).  They were not overly concerned with the cpcs and no other markers were found. I can tell you I was a complete mess for weeks between getting the screen positive results and waiting to see the genetic counselor/mfm.  

  I was offered an amnio at 16 weeks and all the risks were discussed. My dr said his risk of miscarriage was 1:800 for the amnio, which for me was less then my risk of having a problem. My DH and I discussed what we would do before the appointment and since we already have a almost 2 year old at home we felt we had to know and we would go ahead with the amnio. I couldn't have imagined going through the rest of my pregnancy in the constant state of worry and stress, but that was the right decision for my family. We wanted to prepare our family and have time to prepare if there was a problem. Unfortunately my membranes were not closed so I had to wait until almost 18 weeks to get the amnio done. The amnio itself was not bad. It really didn't hurt and I didn't have much cramping afterwards. You do have to take it easy afterwards for a few days. I did get the FISH results and only had to wait a few days for those. My final results were back in a week. Thankfully my ds has normal chromosomes. I think you have to decide what is right for you and your family. I did not feel pressured into having the amino at all. I also don't think they everyone that has an amnio only does it if they would terminate.

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• kristennd member

  January 2011

  You didn't say what your actual odds are, but my blood test came back with a 1:16 chance of Down Syndrome. We chose to have the amnio. The blood test wasn't done until week 18 so the OB felt that there wasn't time to also do a level 2 ultrasound and take soft markers into account.

  We went to a facility out of state whose miscarriage rate is the 1 in 1600 that is common these days for places that do a lot of tests. Much better than the traditional 2%. The odds improve the more practice they get.

  All the amnio results, FISH and otherwise, were just fine, to answer one of your original questions.
  

  

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• sculptress

  January 2011

  ENDING OF THE STORY:

  So I was told I would be 1:60 chances of the baby having downs.   Like I said before I was a nervous wreck and my husband and I kept all of this info to ourselves which to me was even worse than telling my closest.  So we went through with the amniocentesis.  They did the second sonogram before the amnio..which showed no signs of downs but I couldn't live without knowing what the prediction turned out to be.  So I followed through with amnio and he numbed the area to the left of my belly button and that hurt a lil bit like a bee sting.  Then I felt a lot of pressure like some weight was placed on my stomach then he used the needle and withdrew about an ounce or 2 of the fluid.  It felt very awkward and annoying but not like OWWW pain.  It was all over within a few minutes and he said it was the FISH testing and I would find out the results the following day (today).  So I was so relieved to get the call today that everything looks fine and I was overreacting for nothing.  Now the big question is, if we have another baby should I have the genetic PENTA blood testing at all?  It really doesn't seem reliable if almost everyone I've talked to has tested positive and turned out to be fine.  Anyway, thanks ladies for your kind words and support!

  

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