LAT: Down syndrome screening advised for all pregnancies

[DeepModem Mom]

Down syndrome screening advised for all pregnancies
New guidelines say all expectant women, not just those older than 35, should have the test in the first trimester.
By Thomas H. Maugh II, Times Staff Writer
December 31, 2006

All pregnant women, regardless of their age, should be offered screening for Down syndrome in their first trimester, according to new practice guidelines issued today by the American College of Obstetricians and Gynecologists.

Noninvasive screening tests developed over the last decade have made it possible to predict the risk of Down syndrome and certain other chromosomal abnormalities with high accuracy.

Those identified as being at risk can then be offered further screening with invasive, and more dangerous, tests such as amniocentesis or chorionic villus sampling, according to the guidelines published in the January issue of the journal Obstetrics & Gynecology.

Invasive tests have previously been offered routinely to women older than 35, who are at the highest risk of bearing affected children. But the risks in older women have been managed so successfully that the largest number of Down syndrome children are now being born to younger women, according to Dr. Edward McCabe of the Mattel Children's Hospital at UCLA....

The guidelines are already followed in most academic centers, but not in many private practices, especially in those that are small and in rural areas, said Dr. Gautam Chaudhuri, executive chair of the obstetrics department at UCLA's Geffen School of Medicine....

http://www.latimes.com/news/printedition/asection/la-sci-down31dec31,0,3257558.story?track=mostviewed-splashpage

[Missy M]

1. This should be made available to all pregnant women as a routine...

test and paid for by insurance.

[nodehopper]

6. I totally agree, butI I think they should perfect the technology to eliminate

the ridiculously high false positive rate

[phylny]

18. Yup, my last pregnancy had a false positive and we had a decision to make.

We ended up seeing a genetic counselor, and she said that we could do more invasive testing to be certain, but we had to decide what was "worse" for us: 1) losing a pregnancy of due to spontaneous abortion as a result of the testing or 2) having a child with Down Syndrome. We decided to do nothing and wait. I'm a speech-language pathologist, and I've worked with kids with Down Syndrome, knew the range of intelligence and behavior that we could expect, and knew I would love any child we had.

She was born and didn't have Down Syndrome.

I don't fault parents who would want to abort, though, at such an early stage. While I wouldn't and couldn't have (I knew too many fantastic kids with Down Syndrome), it is the couples' right to make that decision.

[nodehopper]

21. I ended up not doing the testing

because I can't pay for it, but even if I could, my midwife was very against it, precisely because of the high false positive rate.

on the plus side, amnio is much, much, safer than it used to be, statistically. still, such an awful, invasive procedure...

I am young and in good health, and the ultrasounds were good, so I am going to hope that the baby is fine; I suppose, if it's not, I can give it up for adoption, although I like that option much less than early abortion.

[nodehopper]

22. oh, and that is fantastic that your daughter was born healthy!

[Quantess]

41. Hi! I read your post and.....

:loveya:
What an amazing decision you two made!!
I was a speech pathologist for a few years.

[MrsMatt]

2. Good idea, IF

the tests given are more accurate than currently. Both of my children had false positive readings - due to my age (34 and 42), I elected for amnio to be sure. Granted, after the first episode, I was prepared for a false positive reading for my second, but it was still pretty nerve-wracking.

[gula]

3. And if the test comes out a true positive?

[nodehopper]

5. then parents can consider their options: to keep, abort, or give up for adoption

I would appreciate being able to have a test like that, if a) it was covered my my insurance (it is not) and b) if the false positive rate wasn't as high as it is.

[SmokingJacket]

25. Something like 80% are now aborted.

I'm a little uneasy about it. It *is* eugenics.

But then again, I have healthy kids and the luxury to feel that way.

[Quantess]

26. I would argue that it *isn't* eugenics.

Down Syndrome is an extra chromosome. Not a bad chromosome, just one too many.

[DemBones DemBones]

36. Of course it's eugenics. It's encouraging the elimination of

people with Down Syndrome, which, by the way, is not always due to a trisomy 21 (three 21 chromosomes instead of a pair) but sometimes to a broken chromosome. There is a great deal of variation among Down Syndrome children; some are almost "normal" (whatever that means!) in abilities. For thirty years or more, it's been known that early educational experiences for children with Down Syndrome also make a lot of difference. My cousin runs such a program and the children enrolled in it have gone on to regular schools.

[Quantess]

40. But now, you are making a leap.

by saying that testing is "...encouraging the elimination of people with Down Syndrome..."
Testing is the only thing being encouraged at this time.
What the women do with the results of the test is to their own discretion.

Testing, actually, encourages expectant mothers to be prepared to deal with the reality that their fetus has a serious birth defect. Some women welcome the added challenge of raising a child with Down Syndrome. Some women are barely equipped to deal with raising a child at all, and would not be able to handle the extra challenges of parenting a child with a serious birth defect such as Down Syndrome. A parent like that would likely put their child up for adoption. I'm sure there are excellent people out there, who adopt children with Down Syndrome, but it should be no surprise to anyone that most adoptive parents would prefer children without a serious birth defect.

Early educational enrichment is absolutely necessary for optimal development, for children with Down Syndrome. Children with Down Syndrome, in my opinion, fail to blossom without a lot of extra physical, sensory, and speech-language stimulation. Some lucky children with Down Syndrome were born into circumstances that allow them to reach their greatest potential. The sad truth is that not every parent or family can provide such an extra-enriching environment. Some unlucky children with Down Syndrome are a burden on their families. Most children with Down Syndrome are extremely "special-needs", and it really does take a special environment to properly raise a special-needs child.

My experience with children with Down Syndome is from being a speech pathologist. I have worked intensely in a clinical setting with a toddler, and a 6 year old child, both with Down Syndrome. In a school setting, I worked at least 2 elementary school-aged students with Down Syndrome, before I quit. (I'm not in speech pathology anymore).

I think I like your cousin already. This type of work is enjoyable in many ways, and the students/clients are the best part. I quit the career for other reasons, definitely not because I didn't enjoy working with students/clients.

[nodehopper]

34. a lot of things are eugenics, technically

eugenics advocates intervention in human heredity. So aborting fetuses with any kind of defects in their genes, including things like Taye-Sachs, is eugenics. Does it bother you in those case?

Eugenics was obviously horribly misused when applied to such socially constructed categories as race, and I can totally see the debate around things such as autism, mostly because it IS such a spectrum, but I don't have a problem with aborting if there is a real medical problem, that either results in imminent death, in a a shortened life span riddled with chronic pain, or a developmental disability so severe that it precludes the person from ever becoming an independently functioning individual in a society. Again, of course, it is up to the parents; and people can have different reasons. I personally think it would be cruel to give birth to a child with CF or Familial Dysautonomia; I don't think it's cruel in the same way when it comes to Down Syndrome, because the latter is not associated with a chronic painful condition, but I personally could not raise a child with Down Syndrome.

[Quantess]

42. Well, some people who are known carriers of certain genetic diseases, such as those with the

Huntington's disease gene. (here is a classic case of a disease that is genetic, and not at all contagious, as some people still think all diseases are) The Huntington's gene is 50%/50% passed onto offspring. However, the symptoms first appear in mid-30s, so a parent may not know he/she has passed the gene on to his/her children.

If I had a Huntington's gene, I would not dare pass it to offspring of my own.

[nodehopper]

45. well

right, and people who have known genetic diseases should get genetic testing, if that is available to them (of course, not everyone can afford it, which is a travesty). But if you are a carrier of an allele for a recessive genetic ailment (like CF), or especially a dominant genetic ailment like Huntington's, you can make choices not to have bio-children, or, if it's a recessive allele, ensure that your partner does not have it. However, pre-pregnancy genetic counseling unfortunately is not helpful for problems caused by chromosomal translocation, which results in things like Down, Trisomy 13, etc. cannot actually be detected until the fetus is already in utero.

[bettyellen]

8. if it were your test result that would be your business, and your decision alone.

[Quantess]

9. Yes, thank you!

:applause: Couldn't have said it better myself.

[piedmont]

16. exactly....

and by the way, that is the creepiest cat picture I've EVER seen.

[KittyWampus]

38. It may be 'my' decision alone. But let us all be honest. It IS eugenics.

[lindisfarne]

43. Perhaps you should research what 'eugenics' means. It does not necessarily apply when a couple

makes a decision to abort a fetus. Whether or not it applies depends on how one defines it. This discussion has been held here before; "eugenics" is a loaded term and carries (for many) all kinds of connotations which do not accompany most decisions to abort a fetus.

"Eugenics has, from the very beginning, meant many different things to many different people. Historically, the term has been used to cover everything from prenatal care for mothers to forced sterilization and euthanasia. Much debate took place in the past, and takes place today, as to what exactly counts as eugenics.<2> Some types of eugenics, such as race-based eugenics and class-based eugenics, are sometimes called 'pseudo-eugenics' by proponents of strict eugenics that deals only with beneficial and detrimental intrinsic traits.

The term eugenics is often used to refer to movements and social policies that were influential during the early 20th century. In a historical and broader sense, eugenics can also be a study of "improving human genetic qualities". It is sometimes broadly applied to describe any human action whose goal is to improve the gene pool. Some forms of infanticide in ancient societies, present-day reprogenetics, preemptive abortions and designer babies have been (sometimes controversially) referred to as eugenic." more at link
http://en.wikipedia.org/wiki/Eugenics

[KittyWampus]

46. Why play semantics in this case. On any level this is eugenics. Selecting a fetus

and its viability because of its traits.

And since this is part of the scientific/medcial industrial complex, I would say this is in fact a part of a social movement. Whether people are consciously aware of it or not.

[bettyellen]

47. a woman can choose to abort for a slew of reasons, none being YOUR business at all

the decision is every bit as private as her own body, it's not up for community review or approval.
there is usually a variety of factors and circumstances coming into play, not one single thing. some you may be okay with, some not. SHE may disagree with you on what is moral and right, so...exactly how and why did you come to believe someone needs you to sit in judgement over any of it if indeed, it's not your body, your life?

[nodehopper]

48. yes, technically it is eugenics

because eugenics, by definition, is any kind of intervention into human heredity. As someone pointed out above, eugenics has become, historically, a loaded term, because it was used by pseudo-scientists to route selection in a direction that had to do with things like race and class, rather than genetic illnesses. So, in the broad definition, everything is eugenics, including aborting anencephalitic babies.

But it seems to me that you are reacting to the meaning of eugenics that has become associated with social darwinism projects, where it was used to try and eliminate traits that are biologically meaningless (so, race is a biologically meaningless construct), or undesirable phenotypes. That is very different from choosing to abort fetuses that have severe genetic abnormalities.

[MrsMatt]

10. I would have been able to prepare myself

and my family for the birth of a Down's syndrome baby. I didn't want it to come as a surprise. I try to gather as much information as I can in situations so that I can make an informed choice. In my case, both children were wanted - we wouldn't have terminated.

You don't know me. Please don't make any assumptions.

[gula]

19. I was not making any assumptions.

Nor do I presume to have an answer.

I raised the point because I believe that this is one of the most difficult and heart-wrenching decisions that potential parents will ever have to make.

[nodehopper]

23. Aborting at an early stage

if I knew the child had Down's syndrome would not be a difficult or heart-wrenching decision for me, personally. I know many other people who feel the same way.

[Dulcinea]

35. Me neither.

I had amnio with both of my pregnancies due to my age. I wanted to know that both kids were healthy. I have a coworker with a Down Syndrome child, & I know I could never handle the demands a special needs child places on the whole family, or the expenses involved in their care.

[DemBones DemBones]

37. A lot of people want to be prepared, not just

for Down Syndrome but a variety of other genetic disorders. Lots of people who know they will not abort, no matter what, want testing so they can be ready if there is a problem with the baby. Those false positives make a lot of people suffer, though.

[jody]

4. Perhaps soon, we can screen for IQ and that will present an interesting dilemma.

See Behavioral Genetics

[pnwmom]

7. I doubt that since so much has to do with nutrition and environment.

[jody]

11. Many researchers believe that 70-80% of IQ is genetic. That may be proved or disproved as scientists

discover more about DNA.

[pnwmom]

12. The number I've seen is about 50%.

[jody]

13. American Psychological Association says "for children (about .45) than for adults (about .75)"

”Intelligence: Knowns and Unknowns”, Board of Scientific Affairs of the American Psychological Association

Like every trait, intelligence is the joint product of genetic and environmental variables. Gene action always involves a (biochemical or social) environment; environments always act via structures to which genes have contributed. Given a trait on which individuals vary, however, one can ask what fraction of that variation is associated with differences in their genotypes (this is the heritability of the trait) as well as what fraction is associated with differences in environmental experience. So defined, heritability (h2) can and does vary from one population to another. In the case of IQ, h2 is markedly lower for children (about .45) than for adults (about .75). This means that as children grow up, differences in test scores tend increasingly to reflect differences in genotype and in individual life experience rather than differences among the families in which they were raised.

[SoCalDem]

14. That's the tricky thing about percentages, though

Our oldest was born with a birth defect that happens about 1 in 600K births, and the abruption that happened to coincide with his birth is rare too, but for our family it was 100%. With modern technology, his defect would have been caught with ultrasound.

Ultrasound was not available so it was a total surprise to us..and to our pediatrician who had never had a patient with this defect in the 38 years he had practiced, so they decided to just keep me unconscious for 4 days until they knew what to tell me..:eyes:..

Then they all were surprised that I was not exactly eager to try to cough up the wet tennis balls in my lungs from the pneumonia I ended up with..

anyway..

33 years later, I cannot imagine my life without him, but in all honesty, I cannot say what the 24 yr old soon-to-be-a-first-time Mom (me) might have decided at 10 wks pregnant..

The "not knowing" how things will turn out is agonizing. Luckily for us, things worked out sort of ok..(if you consider 28 operations before he was 8 yrs old).. he grew up relatively healthy, is married and very successful, but with the health care we have now, the care he got would have been entirely different (We were able to take him to Mayo Clinic, and insurance paid most of it)..

Sometimes I think not knowing may be the kindest thing. Even though what happened to our son was not anyone's "fault", there is guilt either way.. Parents can't help it .

sorry to ramble, but these Sophie's choice things always "get me"..

[pnwmom]

15. Hi SoCalDem

You're absolutely right, and I've experienced something similar in my own life -- percentages aren't comforting at all when you're the 1 in a million or so. So what if it's rare -- that 's no comfort if someone in your family is the rare one.

I'm so glad that you were able to give your son the medical care he needed and that things have worked out for him.

Peace to you and yours in 2007.

[LeftishBrit]

17. Most studies do suggest about 50%; but interestingly, some recent studies have compared the

effects of heredity on IQ in poorer versus better-off communities, and have found that heredity influences individual differences in IQ far more in the better-off than the poorer communities. This could suggest that once people are living in a fairly reasonable environment, quite a lot of IQ variation is then down to the genes; but environment becomes more important when people are suffering serious deprivation, and don't have important needs meant. Makes sense IMO.

[pnwmom]

28. I agree. That makes sense.

[davsand]

20. I'm glad it is more than just the blood test they are using for this.

That "Triple Test" does have an awful lot of false positives, and it has scared the crap out of an awful lot of parents over the years. (I don't care how often they TELL you that the test has a lot of false positives, it is creepy as heck to deal with if it happens to you and YOUR baby!)

I had not heard about the ultrasound exam they discuss in that article. It makes a lot of sense to me that given how commonly available ultrasound is, that's certainly a good way to be able to double check any kind of blood work that comes back with questionable results.

Having had an Amnio when I had Material Girl in 1997, I'll tell you that ANYTHING that avoids having a needle inserted thru your abdominal wall is a good thing. That test is seriously high on the "creepy factor" (if you want my opinion of it, anyway) and I am so VERY glad that other women might not need it with this new sonogram screening technique.

I have to say, when I first read the title of the OP I really didn't expect to agree with this new guideline because I have known more than one family that faced false positives on that Triple Test. Maybe had this additional screening been available those parents might not have faced such a huge scare.

Now, if ONLY all women had access to pre-natal care--but THAT is a different discussion...

Regards!


Laura

[SmokingJacket]

24. I wonder how people with Down feel about this.

I have to admit I don't feel comfortable that we are weeding out people with this disability.

They aren't as intelligent as most of us and have other health problems that shorten their lives, but they do live good and worthwhile lives most of the time.

I don't know, but maybe we should be talking about this more.

[pitohui]

27. almost all of them have cognitive deficits

to me it's a no brainer that we would never deliberately pass this on to another generation, i would no more do this than i would deliberately cut a child's tendons or knees at birth so she could never walk

i have known only one down's syndrome person who was not mentally retarded and who was able to read and write and create on a high average level, at that, the part of her brain affected made it difficult for her to speak (so that it was fortunate she was able to write and fill her notebooks with her thoughts) and impossible for her to ever learn to walk, she was trapped in a wheelchair forever

i don't see any reason to condemn generations without end to the same fate

[AngryAmish]

31. Obviously it was better that she had never lived

I am sure she agrees with you. For the hygiene of the human race and all that.

[DemBones DemBones]

39. I doubt there's a family anywhere that does NOT pass on bad genes,

usually recessives. When they start offering tests that will predict if a baby will develop heart disease decades after birth, or an immune disorder like multiple sclerosis or lupus at some point in life, should all the babies testing positive on those tests be aborted? Everyone gets sick eventually. You may as well say that all babies should be aborted because life is difficult and we all die eventually.

[CTyankee]

30. I actually worked with this population a while back and

their numbers are getting smaller and smaller. As health care improves for them, the ones that are born are living longer and thier parents are extrememly worried about what will happen to them when they, the parents, die. It is a dilemma for them.

Both my daughters had the testing done in their pregnancies when they had passed their 35th birthday. While none had a positive (false or not) test, my little grandson has some developmental issues in speech and on the low end of the autism scale. He is getting lots of therapy and coming along very well.

[momster]

32. A relative works with the Down's Population --

working mostly with older residents whose parents can no longer care for them. Her company is a private one. She says the Down's citizens are a piece of cake compared with the emotional turmoil of the now-elderly parents. She also says that she can't see there being many more Down's children after this most recent generation of children. Naturally, she's quite torn.

On the one hand, she has found tremendous fulfillment working with wonderful guys and gals whose company she enjoys very much. On the other hand, she sees up-close the challenges and heartbreaks of a group whose abilities range from the mobile/talking/emotional people to the ones who can't do any of that (Down's plus mentally ill plus chronically physically ill) and those who are losing the little ability they possess. It is a constant, endless battle to get them everything they need from the insurance companies or the state -- several times a year she loses somebody to a long-term health problem (usually heart or lung related) and it guts her every time. The parents suffer terribly from guilt and anger that they must surrender their children to a system, caring though it is, expensive though it is, because they just cannot cope anymore. They tend to take those feelings out on my relative because she's there. I have great respect for her.

Would I take pregnancy to term with a diagnosis of Down's Syndrome? Probably not.

[CTyankee]

33. A woman I worked with told the the same thing when she was pregnant.

She said that she had seen the problems that the Downs Syndrome individuals and their families had to face and she would terminate if her pregnancy revealed an outcome with a Down's Syndrome. What she said was chilling to me. However, I agreed with her.

[SKKY]

29. I agree 100%, and speaking from experience, it can make a world of difference...

...My wife and I had all the tests done (non-invasive), and everything came back negative. We even had one of those ultra-high resolution ultrasounds that shows everything. Nothing seemed out of the ordinary. Then, we learned the day after our son's birth that he has Down. I think it can help parents make those difficult decisions because, from what I've seen over the past year, not everyone is up for the task of raising a child with Down. Having said that, I know so many parents of children with Down who have told me, "I can't even believe I ever considered aborting this baby."

[lynne]

44. My daughter is 5 mos. pregnant and chose NOT to have the testing. -

- She said that she would not abort her child even if it had Downs so she decided to do without the expense/time/trouble of the test as it would make no ultimate difference in her pregnancy.

It's good that it is available for those who want it.