Abnormal Quad Screen for Trisomy 18 - Anna,TX

Updated on December 14, 2006
M.A. asks from Anna, TX
4 answers

I found out the day before thanksgiving that my quad had come back abnormal for trisomy 18. It is a lethal chromosonal disorder where the baby has an extra #18 chromosone. 90% percent of the time it is an major heart defect that makes it lethal otherwise its a defect of somesort. This is info I have gotten from online research and genetic counselor. First ultrasound doctor said was hard to see everything cause of scar tissue from previous c sections and bab still a lil small. Just had another one yesterday and he said he still couldnt see anything as far as defects go. I was told they could spot50-70% of defects by ultrasound. So its kinda iffy iffy. I elected to have an amnio done (did not hurt at all)we should be getting the results next week. I am looking for peoples advice the have been through this before preferably this disorder since its unique in almost a 100% infant mortality rate. I am looking for advice as far as termination versus carrying to term. My dilemas are 1. I was told by my DR before we knew the test results , NO MORE BABIES , lol i have had 3 c sections he said after this one I am putting my life at risk. time to tie the tubes, So this is a very very hard decision for me and my boyfriend. Thehospital we are using does do terminations after they are considered medically necessary. I have had diffrent advice from friends and family along the lines of , deliver her at least youll have those few minutes or few months with her. and also had someone tell me that it may be easier to let go early and without having been able to see hold and bond with the baby. I am not wanting any rude anti abortion schpeels either I am looking for good solid advice about this. Sorry for being long winded just want to let yall know what the exact situation is.

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So What Happened?

Well the genetic counselor called me last week and said baby is normal and is definatly a girl! woohoo another one...Thank you all for the advice and supportive words.

More Answers

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D.M.

answers from Dallas on

I'm not sure if you know this or not, but both the triple and quad screens have around a 50% false positive rate. This means that 50% of the time they come back that there is a problem, when in reality there is not. They are highly inaccurate, as they are testing your blood. Just something to consider as you make this huge decision.
We have some close friends who just went through this, but with trisomy 21, downs syndrome. The had both the triple and quad screen as well as all the sonograms recommended and were told difinitively that they were having a baby with downs. They insisted on the amnio and it came back clean, the baby is fine. Since the amnio tests the baby's genetic material, it is highly accurate. I would wait for that test to come back before I did anything.

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A.S.

answers from Dallas on

M.,

I'm sorry to hear that you are going through this. We had a scare (on a smaller scale) when I was pregnant with our daughter. They told us that by her measurements that there is a possibility that she could have downsyndrome. After waiting (for what seemed like forever) a later sonogram showed that she was developing normally.
Since there is nothing conclusive yet, you may find that everything is okay.
I will be praying for you and your family.

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J.E.

answers from Dallas on

Hi M.,

First, I am so sorry you received such news. I cannot imagine how scary this is for you and your family. This is a big decision and it looks like you are giving it enormous consideration and that is good.

You're going to hear all kinds of advice on this and it will range anywhere from physical to financial to spiritual standpoints. Unfortunately, you're the one who has to make the decision and it is a lonely decision to have to make. I will pray that you will have peace in the coming days. And, I'll obviously pray that the tests come back saying she is A-okay! :) It can and does happen!

While you are facing this decision, please remember this story. I have a dear friend who was told her child was going to have this same Trisomy 18 disorder. As you can imagine, she received all kinds of advice from well-meaning doctors and friends about what to do. I'm sure you're hearing the same things she did. She decided to keep her baby and just trust God, whether the baby was going to be healthy or if they only got to spend a few minutes with him. (She is one strong woman! I can't imagine having to face a situation like yours and hers). Anyway, M., the doctors and tests were 100% WRONG. They told her the same thing about her son having Trisomy 18 and that he wouldn't live beyond a few minutes or months. Today, she has a healthy and beautiful son that has not an ounce of problems the doctors told her to expect. He runs around and laughs and is smart and boisterous like his three brothers and little sister. Not to say that things are going to be peachy and that it is going to be easy if you decide to keep your baby girl. We all know life isn't easy and that sad things happen to wonderful people. I just want to offer you hope. I have no clue how tests could be so wrong, but if you want to speak to her yourself, I'd be happy to connect the two of you. She's walked in your shoes and might be able to share more than what I even know of her story.

I share that story because I hope it encourages you as you face the coming days. Even in this day and age, tests and doctors can be wrong. And, even if they're right, I still believe God works miracles and offers blessings in the midst of turmoil.

Given that the tests are so inconclusive and given that doctors are sometimes wrong, you're right to struggle so much with this decision. It sounds like you are leaning toward keeping your little girl because you sound unsure about the test results. There ain't nothing wrong with having hope, chica! If the tests next week say she probably has T18, I agree with your friends who say that even a few months or minutes of life with her will turn out to be special to you. Every child has worth and beauty and I take issue with anyone who would say to make a decision to dismiss a baby simply because a special needs child is going to eat up all your money. I'm so relieved you didn't even mention finances as part of your decision. Believe me, you're going to hear it. Anyway, that's just my two cents.

I have had two friends with children diagnosed with T18 and know it is a lonely place to be. M., you are in my prayers, sweetheart! Please let me know if you want to talk to my friend. I cannot tell you how awesome and loving she is. I think she could be a great friend to talk to since she knows exactly how you feel and the rest of us do not.

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A.

answers from Dallas on

M.,
For one I am only going to be staight forward with you..
This is a decision that will affect you/boyfriend for the rest of your life
1) Your baby will suffer no matter what type of abnormallity
Are you ready to care for a child with a mental/physical disability?
I have work with special needs children and this is very time consuming and hard work. (you need ALOT of patience)
2) Money- Any type of procedure, special care, will cost alot to Money especially to take care of a special needs child.
3) This will weigh heavily on your shoulders because you are the mother and if you don't care of your baby properly no one else will...
Anyway, Like my husband said even though there is a heart beat the fetus does not feel, smell or breath on it's own.
You really need to do some soul searching and write the pro's and Con's down.

Good Luck,
A.

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