Mark Henderson, Science Editor
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A test that can detect Down’s syndrome from the blood of pregnant women has raised the prospect of routine screening for the condition for every expectant mother who wants it.
Genetic markers that show whether a foetus has the chromosomal disorder can now be identified in the mother’s bloodstream, after research that promises the first reliable noninvasive prenatal test.
The experimental procedure, developed in Hong Kong, has been shown to diagnose 90 per cent of Down’s syndrome cases in a small trial, while also correctly identifying 97 per cent of foetuses that do not have the condition.
If its accuracy can be improved and it is validated in larger patient trials, which scientists believe should take three to five years, it would transform prenatal testing for Down’s.
At present this is provided only for women at high risk of having a Down’s baby because the current procedure is invasive and can cause a miscarriage. It requires amniocentesis or chorionic villus sampling (CVS), which involve inserting a needle into the womb to remove amniotic fluid surrounding the foetus, or a small piece of the placenta. Both techniques provoke a miscarriage in one in 100 women, and 320 healthy pregnancies are lost each year in Britain because of Down’s tests. These could be prevented by the noninvasive prenatal diagnosis (NIPD) test, which could eventually be part of standard antenatal screening.
The advance, however, will also create ethical dilemmas for many couples following positive tests. There are fears that the simpler procedure and more extensive screening could lead to more abortions.
Nigel Carter, of the Wellcome Trust Sanger Institute, near Cambridge, whose team is working on the technique, said: “As well as your ultra-sound scan, you would have a few millilitres of blood taken for your Down’s test. It’s the sort of procedure that could move from being offered only to mothers at risk, to become a more normal screening procedure.”
Lyn Chitty, of Great Ormond Street Hospital for Children, London, said: “It isn’t offered for Down’s on a clinical basis at the moment, but if you talk to people in the field the majority think we will be there within five years. This whole technology really is going to change prenatal diagnosis.”
A reliable blood test would enable many more women to learn whether they are carrying a foetus with Down’s. Those who then choose an abortion would be able to have it earlier, while those who do not would have more time to prepare themselves for bringing up a child with learning disabilities.
At present, women who would not consider a termination rarely have amniocentesis or CVS, as there is little point in endangering a pregnancy just for the sake of an early warning.
Down’s syndrome occurs when three copies of chromosome 21 are inherited instead of the usual two, causing learning difficulties, often accompanied by serious cardiac defects and a high risk of early-onset dementia. It affects between 1 in 800 and 1 in 1,000 pregnancies, and the risk rises with maternal age, especially after 40.
Despite the age link, most Down’s babies are born to young women, as these simply account for more births.
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It amazes me how ignorant and selfish some people are.
Who are we to play God?Soon,parents are going to be choosing what colour eyes or hair their child has,and aborting those who are not "perfect".
My little sister, who has Down's,is no harder to look after than anyone else her age.She is perfect
Kate, West Sussex, UK
Most comments here are wrong-headed. This is a huge advance. Stop romanticising having a DS child & spreading lies about statistics of families staying together and being happier. Downs is hard. Divorce is rife in DS families. Non-DS children are often unhappy and maladjusted. Abortion is not murder
Kerris, Winnersh,
I find it amazing that a person who CHOOSES to kill there child while pregnant, due to DS or some other issue, are given comfort and told they did the right thing. But if my 3 year old fell, and I was told she would not be normal, I would be a horrible person for not staying by her side. Funny
Jen, Bozeman, America
Mr. Sullivan, the disorder appears randomly in the population, it is not inherited, therefore all this procedure promises is erradicating babies with the disorder.Murder
My six year old has Trisomy 21 and has a happy fulfilling life. Our Catholic faith teaches us that she is a unique gift from God
Leticia Velasquez, New York, USA
My daughter born w/Down's, is happy 18 yr. old. She loves, lives, breathes, reads, spells, plays soccer, basketball, has "normal??" family & friends who love her. Works in cafeteria. 20 yr old boyfriend who loves her.Plays harmonica and drums in church. Sings. God made her wonderful. UR not normal..
peggy barton, Marlow, U.S
Some of the responses here are, quite frankly, disturbing. Some kids have physical problems, some kids have ears that stick, some kids need glasses. My kid happens to have intellectual delays. Big deal. You aren't going to prevent differences in this world. And, thank God for that.
Pauline Wolak, Big Rapids, USA
I write as the parent of a son, David, who is seventeen, and has Down's syndrome. He does not "suffer" from Down's syndrome. He "has" Down's syndrome. Furthermore, the real people with learning difficulties are those who will not appreciate that these people have potential.
Paul Clark, Belfast, Northern Ireland
I am a father of a 6 yr old w/ Down syndrome, When we first found out I prayed for healing. It came, in me. My selfish ambitions & wants for my child to be/do were removed by his love & wonder of life. God gifts are not always wrapped the same. If you can't change minds, you can change hearts.
Chris, Headland, USA
Paul of Chester,and then what do we selectively erradicate? People with long middle toes that have difficulty wearing high heels? In some parts of society, this would be considered a genetic disorder.
Pat, Brisbane, Australia
This test is very good at confirming that a foetus does NOT have Down syndrome BUT it is VERY poor at confirming that the foetus DOES have Down Syndrome.
If you assume 1 child in 733 has the condition then the test is only 5% accurate.
Steven Jones, Hull, UK
Natural selection will never select out down's syndrome as Paul suggests as it commonly arises due to a defect in chromosomal separation during the production of sperm/ova. It is not an inherited condition (Down syndrome individuals are almost invariable infertile)
bob spink, London, UK
Well Ian, I guess Rev Dr Randolph's wife fell into your idea of "wanting our children to show us what we COULD HAVE BEEN". Yes, I too have a 17 yr old with DS's. She shows me every day what I SHOULD HAVE BEEN...the most loving, caring, heartfelt & non discriminating person. A beautiful child of GOD.
Robin, TX,
The earlier this conditions is recognized the better, and if the parents decide the bundle of cells - for that is what it is before 16 weeks - isn't to their liking, it is their decision. End of debate. After sixteen weeks, when the foetus can be supported independently, that's different.
ChrisY, Santa Cruz, Usa
Let us simply call the issue by its true name: Eugenics. The whole purpose for this test is to allow the removal of the so-called "undesirables." Soon, we will be eliminating anyone with disabilities, and then those without disabilities. Who decides who has the right to live?
Brian, Steubenville, USA
Research shows that parents of children with DS have a lower divorce rate than average, & that siblings are more compassionate & well-adjusted than their peers.
With proper education & supports, many with DS attend college, get married & lead productive lives. Why eradicate and not embrace???
Lori, Texas, USA
Seems to me that parents these days are more concerned with having the "perfect child," as opposed to ensuring, above all, that their child is happy. Down's children are not perfect, but they are loving, happy individuals who yes do bring hardship as well as joy.
KKitt, overland park, USA
I have a child with Down's and while there are hardships, there is also joy in watching their forever innocent eyes observe the world. I am learning a lot myself. I know one thing: i won't have to worry about him ending up in jail. Not sure about the other two..besides, who are we do play God?
joanne, silicon valley, usa
My daughter has Down Syndrome. She is the glue that holds my family together. She brings pleasure and joy to all who know her. Society would be poorer for her absence. Let's screen instead for future drug addicts, serial adulterers, murderers and rapists! At least people with DS enrich lives!!!!
Sarah, Coventry, UK
This pre-natal test will almost certainly lead to more abortions at a time when the general public want to see a cut in the number of abortions. The idea that a Down's syndrome baby has less right to life than a "normal" child who will "follow a career", I'm afraid, is ideologically fascist.
Laurence England, Brighton, UK
The condition can't be "bred out" by selection as Paul S wondered. It's genetic - as in it affects the chromosomes - but it's not inherited . The major factor ( last time I read a text book! ) is the age of the mother ( and by implication her unfertilised eggs ) at conception.
Martyn Lobley, Bexley, UK
I had this test done last summer and recieved a 1 in 36 chance of having a child with downs. Ater a battery of testing, I found out it was a false positive and in the end, I delivered a stillborn daughter at 20 weeks. I would not reccomend this testing unless you have a family history or Dr.s order
Amanda, Maryland, USA
not very risk free if you happen to be an unborn baby with down syndrome; why not call it "Seek out and Destroy" - be honest about it.
michael, harrogate, uk
Erradicated by selective process? Obviously Paul you need to do a little more research before opening your mouth. I am assuming, just like Ian, that you do not have a child, sibling, or friend with Down's.
Whether to do the testing or have the child...it is the parents decision...THE END.
KKitt, overland park, USA
The condition is Down not Down's Syndrome. People with Down Syndrome do not "suffer". They have intellectual disabilities, not learning disabilities. They are some of the most honest, loving and genuine people on this planet. They can do nearly anything you or I can do, it just takes a bit longer!
Emma Willis, wenham, United States
I'm the mother of a 19 year old with Down Syndrome. He has been a challenge and a delight to live with. A lot more love and laughter in my life. Choice is good. I wouldn't have chosen life without my wise and lively third child.
Kathy, Redway, CA, USA
Surely what matters is what individuals do with their lives. Do not people with Downs Syndrome who go to school, get jobs and live happily amongst their family and friends, contribute more to this world than people who drop out of school, don't work, commit crime and contribute nothing to society.?
Elizabeth Potter , Wirral,
The new test is welcome as screening is now invasive and risky or non-invasive but indeterminate (probability of risk). However, debate on screening can promote a negatve perception of Down's Syndrome making it difficult to make an informed decision or come to terms with a diagnosis.
mary cole, cambridge, uk
I have a very bright three year old boy who has Down's. I could not imagine not having him. And yes, he is adorable but he has also already achieved many things "normal" children have. I'm looking forward to watching him grow and achieve many more things. He will prove Ian wrong. No doubt!
Tracy, Summerville, USA
I am the mother of an 8 year old son with Down syndrome, he is not a sufferer - he just happens to have Down syndrome. Neither is he a "Down syndrome child" or a "Downs" he is a little boy with Down syndrome. Would you say "Oh look there's a Spina Bifida" - no you wouldn't - think about it!
Tracy , Twickenham, England
My 5 yr. old son was born with Ds, I would of wanted to know before he was born, only because I would of been worried sick based on the information given by the medical community. There are some issues, but not have the issues parents are lead to believe by Drs. Change how Drs give dx with the test
Helen, Spokane,
Parents have a right not to have Down's syndrome children. The stranger on the bus has the right not to have another passenger show him disrespect.
Result (in both instances): The end of the world? No. Murder? Yes.
Kevin, London,
What "ethical dilemma"? You either decide to bring a child into the world who can't fend for itself or you don't. Abortion is a choice, not a "dilemma."
John Kantor, St. Petersburg, United States
It's also easy to be glib about terminating a pregnancy. The 'scrap it and start again' approach suggests that it's a simple matter to get rid of a baby with defects, but all the people I know who have had terminations, for good reasons, have been strongly affected by the experience. No easy answer
Ruth, Leigh on Sea,
Children with Down's suffer for their disability as do their parents and thus ideally should not be born.
As the purpose of civilisation is (hopefully) the prevention of suffering, I believe that a viable means to prevent disabled birth of any sort can only be a good thing.
Haseeb, London, UK
Parents have the right to bear and love their Down's children. Parents also have the right not to. I want children that can have the possibility of good jobs, homes being able to take care of themselves independently, especially when I am dead.
anna, uk,
Today my son with Down Syndrome turned 20. Saturday, my son with Down Syndrome will graduate from a regular everyday high school. I am proud of my son. I would not wanted to have lived all these years without him. Our family has lived an awesome life with him.
Luann, Westfield, USA
Thank you, Downs parents who confirmed what I wrote (none of my kids are Downs). I had the privilege to live in a Camphill community way back, and spent time with Downs "sufferers", at work and at play. It was a privilege, and extraordinary to witness the access to joy that many Downs folk have
Jeremy Poynton, Frome, Somerset
As a mother of a 43 year old Down's son, I have lived a very wonderful life with him. He has 3 sisters and 3 step-brothers, all who adore him. He has brought so much love into this extended family. We thank God every day for giving us this Eternal Angel.
Elaine Solon, San Juan, Puerto Rico
It is interesting to see the difference between womens opinions and mens. It is natural for species to have young who fit in with the norms of the species, it is not in the interest of the species or individual to be born with defects which prevent this, souls, spirit, joy etc. are only excuses.
Dave Madley, Alicante, Spain
I carried out this project on my undergraduate course and it's great to see it hit the front page!
James, Bristol, UK
I have a child with Down Syndrome. She is three. I can't imagine our family without her. We are fully aware of the challenges we will have but we have already seen the tremendous effect she has had on our family and our community.
denise, birmingham,, USA
I am the mother of a 42 year old with Down's who is now married and living independently. I still think that screening is a very good thing.
Kissa, London
Cindy ALLENBY, London, UK
Blaming your child for marriage pains because he/she had Down Syndrome is pathetic. Many parents have the same marriage problems with a normal child. Having adopted and raising my son (who has Down Syndrome) for 18 yrs, he has become a man who has a soul and unconditional love.
John, San Diego, USA
Well sorry I disagree with Ian he is being narcistic and projecting his own expectations upon his children. Most parents wish that their children are happy and content with life and Down's syndrome children are. They have a joy for life. It's not about achieving things at school, it's about love
helen, chelmsford,
I agree with Ian about being glib with a child with Down;s or any other serious learning disability. It is a huge strain on parents even when they are young, fit and earning enough money to support the child. But what happens when the parents are too old to care for them?
Susan Smith, Brackley, Northants
I mean no disrespect or harshness against those with downs or their parents. But it sounds like a wonderful thing that we can now have a much better opportunity to greatly reduce the number of people born with this condition.
Taz, Hampshire, England
Non invasive screening has to be welcome ,but it won't cover the other genetic problems which can be more devastating even than Downs. Neural tube defects such as anencephaly,blood diseases etc.
Billie, Newham, UK
The new test is welcome as present screening is invasive and risky, or non-invasive but indeterminate (gives a probability of risk). However, debate on screening can reinforce negative perceptions of Down's Syndrome, making it harder to make an informed choice or come to terms with a diagnosis.
mary cole, cambridge, uk
Easy to be glib about having a Down's Syndrome child. All parents want a child whose schooling and career they can follow and contribute to with pride. We want our children to show us what we ourselves could have been and could have achieved. However adorable, Down's children will never do this.
Ian, London,
Rev Randolph - WHY? Anyone who has worked with Downs Syndrome sufferers will know they have fully functioning souls, and can bring joy as well as hardship - whilst I fully support the right of choice with regard to abortion, Downs Syndrome sufferers can lead very full lives.
Jeremy Poynton, Frome, Somerset
In 1979, I was father of a child with Down's, which meant painful decisions. Ultimately, it meant the breakdown of my marriage (my wife projected her sense of "failure" onto our marriage) and continuing issues for my other children. Had this test been available, much suffering would've been avoided.
Rev Dr Randolph Becker, Key West, Conch Republic
Doesnt it make sense to sceren for this disorder?
Surely (and correct me bioligists if im incorrect) this genetic disorder can be erradicated by selective processes?
Paul Sullivan, CHester,