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  • FIRST POST
    • NoNoDrama
    • By NoNoDrama 6th Dec 17, 10:23 PM
    • 199Posts
    • 58Thanks
    NoNoDrama
    1 in 44 Down's Syndrome Risk
    • #1
    • 6th Dec 17, 10:23 PM
    1 in 44 Down's Syndrome Risk 6th Dec 17 at 10:23 PM
    So just had letter through a few weeks after the scan. As she is over 40 we expected to be in the high category.

    But what about other chromosome disorders that can happen? Doesn't the test cover these or are they just not referenced because there was little or no risk?

    No. 13 (Patau's syndrome) or No. 18 (Edward's syndrome) for example? Spina Bifida?

    We wouldn't risk Amniocentesis for Downs, but for the more severe disorders we would.
Page 1
    • jinty271
    • By jinty271 6th Dec 17, 10:33 PM
    • 1,335 Posts
    • 4,061 Thanks
    jinty271
    • #2
    • 6th Dec 17, 10:33 PM
    • #2
    • 6th Dec 17, 10:33 PM
    Having a healthy child is a lottery whatever your age. If you have been identified as high risk you will be offered additional testing and if required counselling to help you with any decisions you may need to make.

    No one here can advise you about every single potential condition (genetic or otherwise) that any pregnancy can result in - even some of the more life-limiting conditions are not always evident until after birth as the chromosomes appear normal and a FSH test is required for a comprehensive diagnosis.

    I hope everything works out well for you and your family.
    Last edited by jinty271; 07-12-2017 at 1:13 PM.
    I don't know much, but I know I love you ....<3
    • Pollycat
    • By Pollycat 6th Dec 17, 11:45 PM
    • 18,552 Posts
    • 47,770 Thanks
    Pollycat
    • #3
    • 6th Dec 17, 11:45 PM
    • #3
    • 6th Dec 17, 11:45 PM
    So just had letter through a few weeks after the scan. As she is over 40 we expected to be in the high category.

    But what about other chromosome disorders that can happen? Doesn't the test cover these or are they just not referenced because there was little or no risk?

    No. 13 (Patau's syndrome) or No. 18 (Edward's syndrome) for example? Spina Bifida?

    We wouldn't risk Amniocentesis for Downs, but for the more severe disorders we would.
    Originally posted by NoNoDrama
    Shouldn't you be asking your doctor about this?
    • ognum
    • By ognum 7th Dec 17, 8:22 AM
    • 4,499 Posts
    • 6,788 Thanks
    ognum
    • #4
    • 7th Dec 17, 8:22 AM
    • #4
    • 7th Dec 17, 8:22 AM
    I am aware of a blood test that can be taken as early as I think 11 weeks pregnant that shows some other genetic abnormalities as well as the sex of the child.

    This test is not yet available on the NHS but probably will be within the next few years but can be done in many private clinics, google on near you.

    My daughter has had this test in both her pregnancies.
    • bouicca21
    • By bouicca21 7th Dec 17, 9:13 AM
    • 3,288 Posts
    • 4,100 Thanks
    bouicca21
    • #5
    • 7th Dec 17, 9:13 AM
    • #5
    • 7th Dec 17, 9:13 AM
    There are tests other than amniocentesis that will pick up chromosomal abnormalities in pregnancies by older mothers. I had one nearly 30 years ago! Talk to the midwives, demand to see the doctor to discuss your options.
    • pinkshoes
    • By pinkshoes 7th Dec 17, 9:19 AM
    • 15,386 Posts
    • 21,004 Thanks
    pinkshoes
    • #6
    • 7th Dec 17, 9:19 AM
    • #6
    • 7th Dec 17, 9:19 AM
    43 in 44 chance of not having downs...

    Why not just pay for a harmony test to get a definite answer? It is non invasive but not available on NHS.
    Should've = Should HAVE (not 'of')
    Would've = Would HAVE (not 'of')

    No, I am not perfect, but yes I do judge people on their use of basic English language. If you didn't know the above, then learn it! (If English is your second language, then you are forgiven!)
    • Toooldforthisagain
    • By Toooldforthisagain 7th Dec 17, 10:33 AM
    • 33 Posts
    • 54 Thanks
    Toooldforthisagain
    • #7
    • 7th Dec 17, 10:33 AM
    • #7
    • 7th Dec 17, 10:33 AM
    I had the harmony test, on the nhs, was totally worth it.
    My LO is three now and a total pickle
    • divadee
    • By divadee 7th Dec 17, 11:20 AM
    • 10,396 Posts
    • 17,839 Thanks
    divadee
    • #8
    • 7th Dec 17, 11:20 AM
    • #8
    • 7th Dec 17, 11:20 AM
    Go for a harmony test. We did and it was the most reassuring test and worth the £400.
    • Tabbytabitha
    • By Tabbytabitha 7th Dec 17, 12:06 PM
    • 452 Posts
    • 889 Thanks
    Tabbytabitha
    • #9
    • 7th Dec 17, 12:06 PM
    • #9
    • 7th Dec 17, 12:06 PM
    So just had letter through a few weeks after the scan. As she is over 40 we expected to be in the high category.

    But what about other chromosome disorders that can happen? Doesn't the test cover these or are they just not referenced because there was little or no risk?

    No. 13 (Patau's syndrome) or No. 18 (Edward's syndrome) for example? Spina Bifida?

    We wouldn't risk Amniocentesis for Downs, but for the more severe disorders we would.
    Originally posted by NoNoDrama
    Downs Syndrome can be pretty severe.
    • 74jax
    • By 74jax 7th Dec 17, 12:31 PM
    • 4,536 Posts
    • 6,116 Thanks
    74jax
    NoNoDrama - how I've missed you.
    Forty and fabulous, well that's what my cards say....
    • Cherry Gale
    • By Cherry Gale 7th Dec 17, 1:29 PM
    • 399 Posts
    • 583 Thanks
    Cherry Gale
    Try ARC-uk.org for advice on the results. There is a helpline you can call.

    I was given one score for downs and another (much lower) for edwards and pataus. I would query why the second score isn't shown. I would try the midwife first (even though the scanning is often another department), but they should respond quickly and tell you who to call.

    Best wishes, hope it all turns out well for you.
    • kingfisherblue
    • By kingfisherblue 7th Dec 17, 3:48 PM
    • 7,409 Posts
    • 15,885 Thanks
    kingfisherblue
    Most of the people that I know whose children have chromosonal disorders (and I know several) were under 35 when their children were born. There are so many different ones, and it would be impossible to test for everything.

    One friend of mine has a disabled daughter who was a SWAN child (Syndrome With No Name) until she was eight. It was only because the family had volunteered to be part of a genetic testing research project that their daughter's condition was identified. It's a very rare condition, and she has since been the subject of articles in medical magazines in the UK and abroad. The family have conferences with doctors in the USA and Canada.

    Regarding Down's Syndrome, someone stated that it can be severe. Yes, it can, but it can also be milder. A lot can depend on which type of DS (there are three types, Trisomy 21 is the most common).

    I found that the doctors were incredibly negative when my son was born - I was 29 when he was conceived, so fairly low risk. I was told that my son may never walk or talk, was unlikely to ever catch a ball, would probably not be able to read or write.... there was nothing positive at all. My son was also born with four major, but rare, abnormalities that needed surgery at birth. He was given four hours to live. My little lad is now 19 years old, and can do all of those things and more. He carries a pad and pen everywhere he goes (and I mean everywhere! Even the bathroom). He loves writing lists, making up family trees, and finding out information about his obsessions.

    Admittedly life has not always been easy, but he has a lot of medical conditions, more than any other child that I know with DS. In some ways, though, I've had more problems with my other son, who has High Functioning Autism (previously known as Asperger's).

    Only you and your partner can decide whether to have further tests. If you do, make sure that you have considered your possible options if the results are not favourable. From personal experience, it seems that many medical staff assume that you will abort if tested positive for certain conditions, including DS. If you are likely to want to keep your baby in the event of disability, be prepared for the negatives and the possible pressure. Unfortunately I know parents who have faced this when they have received their results, and not wanted to abort (or been undecided).

    I wish you both all the best, and remeber that although the chance is 1 in 44, that means that there is 43 out of 44 chance that your baby does not have DS.
    • betsie
    • By betsie 7th Dec 17, 5:00 PM
    • 312 Posts
    • 347 Thanks
    betsie
    A friend of mine in her 30's had a 1-25 risk of downs. She had further tests which still didn't give great results either. Her son did not have downs. He is now 19 and studying in America.
    • meer53
    • By meer53 7th Dec 17, 6:23 PM
    • 8,982 Posts
    • 13,046 Thanks
    meer53
    My risk was 1 in 17. I had a Chorionic Villus test and 4 Amnio tests (to monitor for another possible condition) my daughter was premature but perfect. Yes, the tests were a worry but so was the thought of a baby with a disability, it's a very personal decision to make, the results took away some of my concerns but no pregnancy is ever risk free, tests or not.
    • w06
    • By w06 10th Dec 17, 6:50 PM
    • 381 Posts
    • 556 Thanks
    w06
    That risk looks normal for maternal age isn't it? http://s0www.utdlab.com/contents/image.do?imageKey=OBGYN%2F75423
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