Possible Down's Syndrome?

Question

My friend is 13 weeks pregnant with her first child. Scan showed up 'abnormalities' which may be Down's Syndrome. She has more tests to do to be sure but is being advised by medical staff not to have the baby. She's in a terrible dilema and I cant help her with the decision. Can any of you offer advice or experiences? She's in her early thirties.

Answer 1

She probably had the nuchal tranlucency test. It is typically done between 11 wks and 13 wks 6 days. This test measures the amount of fluid in the baby's neck. I was told anything above 3.5mm is worrisome for chromosomal defects such as Down's or Trisomy 18. In sum, the higher the measurement, the higher the risk of a birth defect. While this test is only a screening test, this test is thought to pick-up anywhere from 50-80% of Down's babies. During this test, they sometimes they also look to see if a nasal bone is developed. Lack of one can indicate problems. Your friend should find out exactly what markers on the ultrasound they are talking about to find out the potential problems. (Large amount of fluid in the neck can also be indicative of heart defects). Also, if they are strongly encouraging her not have the baby, she should determine if there is any immediate risk to her health.

Obviously, the only way to determine for sure is an amnio or CVS.

If she does wish to keep the baby, I would advise her to find a new doctor, one that could be more supportive!

Answer 2

I agree with the person who said that in order for the doctors to suggest a termination it has to be worse than Down's.

I had a genetic screening done at 12 weeks and the scan showed severe abnormalities. The doctor said my baby had a heart defect and swelling on the brain. He said the baby was in heart failure and there was an 80% chance she wouldn't go to term and if she did, she'd be severly retarded and need a heart transplant at birth. He recommended I terminate. Do you see the difference between what I'm telling and what you're saying happened to your friend? If her doctor did tell her to terminate because of Down's, she needs to find a new doctor FAST.

Even with everything my doctor said, I passed on an amnio (abortion isn't an option for me, so why do the test?). I prayed and left it in God's hands. Two weeks later, the baby's heart stopped.

My suggestion is that your friend have ALL the tests they suggest before making any decisions. She also needs to know that those stupid quad screenings have a high false positive rate. Most tests are not a definite confirmation of anything and only give an estimate of what the chances are for certain conditions. When she has all the information in front of her should she make a decision she can live with. As a friend, all you can do is be there for her. Listen to her and comfort her. Don't tell her one way or the other what to do, believe me, I heard some stupid things said to me when I was in her shoes. As you said, you can't make her decision for her, but you can let her know that you love her and will support whatever decision she makes.

My prayers are with her during this very traumatic time.

Good luck.

Answer 3

The problem with these tests are they are not always accurate, yet thousands of women each year abort their children on false assumptions that doctors have made. Prenatal testing often causes unnecessary worry and that's why many women don't get them at all. There's nothing you can really do anyway before the baby is born. Why spend 9 months worrying?? I would NOT go for the amniocentesis or further testing.

By the way, if the medical staff has advised her not to have the baby they have legally overstepped their bounds and could be SUED for it! They should never advise a mother one way or the other but simply share test results. I am shocked that they have said this to her!

When a mother is carrying a life inside of her and there might be "potential" problems, she needs to be affirmed and encouraged and supported. Just in case, I would advise her to read some books about Downs, pray dilligently for peace and comfort, and keep getting things ready for bringing a new baby home.

Nothing has really changed in a way. She is still a mother. She is still going to have a baby. It just might be a baby with some special needs, that's all.

Answer 4

Like others have said, these tests are all "screening tests" which are not conclusive and are based on various factors, unlike the diagnostic tests i.e amnio which will give a definite diagnosis.

So your friend's baby could be fine. The only way to be sure is to have an amnio. She's bound to be in shock at the moment so she needs to be reassured that this is not a certainty.

She needs to talk it through with her partner - it all boils down to whether or not they feel they could bring up a child with a disability and this view might change with time as they come used to the idea. If they feel they would rather abort then I imagine they need to get an amnio and this would tell them for sure whether or not there is a problem.

I'm sure she's aware there is a slight risk with amnio but thousands of women have them done without problem. I have heard that it really depends on the experience of the operator so if she decides to go ahead, make sure she asks whether the operator is skilled and has a good record of successful amnios. I was against them myself but have now decided that if my risk is higher than average then I'll go for an amnio as my OB is very skilled.

It's hard for her not to worry - that's only natural and it's going to be on her mind constantly. Just reassure her that it might be a false alarm and to try and stay calm until further testing is done.

I hope everything goes OK.

Answer 5

That is a very hard thing I think any woman can expierence.
Well since she is in her early thirties this seems rare because she isn't all that old.But let me tell you some expierences I have had and some stories of people I know:

My aunt had her 4th child at age 39 and he was born fine.Nothing was wrong with him at all.
My best friend is a sibling to a boy who is younger than her,and she has helped out with her brother so much and the parents often do lose patience but that is absoutley normal.We all do,wheather the kid is normal or has Down's Syndrome. It is going to be very her. And it is for everyone.
I really don't even know what I would do in her situation but all I have to say it put a lot of thought into it,and I am sure whatever she choses will be the right decesion for her,hopefully. God has a plan for all of us and he must of thought that your friend was a very strong woman if he chose her to take care of a Down's Syndrome child.

Best of luck !

ps- I can somewhat relate because I was the first born in my family,and my parents had another child when I was about a yr old or so,and he was born even worse,at birth he had a bowl movement and swallowed it,choked and it cut off his oxygen supply and he was severe brain dammaged and still is today.

Answer 6

Many screens have shown these things and turned out to be false. I'd suggest getting an amniocentesis especially since she's in her early 30's. This test will be more accurate than the blood test. However, what's the big deal anyway? Why do they want her to automatically abort? I'd get new doctors if mine said that to me. If she couldn't handle the strains of a child with a disability then she could always put him/her up for adoption. My brother is mentally and physically disabled so I've been around many different disabilities in my life. I was also a special ed assistant in a class with a downs child. It will be difficult but raising children isn't easy for anyone. Also, many downs children, and adults, are some of the friendliest and happiest people in the world, in my experience. I wish your friend the best of luck.

Answer 7

Firstly wait for the results! However this is an awful situation to be in! Has she any other kids?
some downs are quite high grade and can live a very happy life, however there can be awful heart problems and stomach probs associated and my friend has a baby who is 2 yrs old with these who has hardly spent a day out of hospital, and will probably die very young!
Whatever she decides, just help her find the facts and support her and give her lots of love! I have a friend who had a downs baby aborted at about 20 weeks and she went on to have 2 normal babies, however she was more or less told it's downs now lets book the abortion!

Answer 8

the other tests available to ur friend include cvs and amneo which are both very uncomfortable and carry risks of miscarriage but are 100% accurate. i think she may b 2 late for the cvs i had this done at 8 weeks. the other takes a sample of fluid around her baby and will tell her exactly what is wrong if anything there may different chromosome disorders with very varying problems and life expectancies. my daughter had patau's syndrome and lived over 4 months more than medical experts thought possible. i wouldn't have changed it for a minute. i d tell ur friend to have the tests b sure then consider her options she is the only person who can make the decisions about her and her baby's future

Answer 9

you don't really say what the tests are, so I will assume an AFP blood test and a nuchal scan. first, as others have stated they are not totally accurate. the ONLY way to know for sure that a baby has DS is to have an amniocentesis or a CVS sampling. in these tests they look at the chromosomes of the baby to determine if there is an extra 21st chromosome which would indicate DS. if DS is suspected for some reason it is now considered the "norm" to ask if the parents want to terminate. I was asked this after I had a level 2 ultra-sound and they found my son to have av-canal, shorter long bones, and a thicker nuchal fold all of which are markers for DS. (this was done at 5 months). I am not going to get on the abortion "pulpit" and preach my views....it is not my decision to make concerning your friend. but I will tell you in my situation... I already loved my son, so abortion wasn't an option for me. today, almost 3 1/2 yrs later I have a wonderful little boy whom I adore, he has down syndrome...big deal. he learns, laughs, plays and most importantly he loves and is loved. we have gone through sitting in a waiting room for 7 hours during his heart surgery, seeing him attached to 16 wires and tubes and in an induced coma...but he pulled through. the best advice I could give you is to tell your friend to get the amnio or cvs sampling done before she makes any kind of decisions!!!

Answer 10

A scan cannot possibly be considered accurate at this point.

AFP testing is notorious for false positives, and honestly, nothing is going to be accurate right now.

She should look into a CVS or amnio; the risks for miscarriage are about statistically the same as the odds of having a Down's baby, so she needs to consider that.

She cannot make a decision right now, because honestly, there's no way at 13 week fetus has clear markers visible on a scan or a blood test to be a concrete positive.

Get a second opinion. And a third.