Checking for Down's syndrome in pregnancy

Checking for Down's syndrome in pregnancy

By Niall Hunter-Editor

The prospect of having a baby with Down syndrome cause considerable anxiety among women, particularly those over the age of 35.

There are tests available to check for this type of fetal abnormality, but they are carried out late in the pregnancy and also carry with them the risk of a possible miscarriage.

However, improvements in ultrasound and blood tests now mean that women can have effective for Down syndrome carried out earlier in the pregnancy and without any possible risks of miscarriage being induced by the test.

A major new study headed by an Irish consultant has shown that over 95% of Down syndrome cases can now be detected in early pregnancy.

Results of the study published in the New England Journal of Medicine demonstrate that new ultrasound and blood tests are now widely available that can detect over 95% of cases of Down syndrome as early as 10 to 12 weeks into a pregnancy.

Over 38,000 pregnant women were provided with a range of ultrasound and blood screening tests at 10 to 13 weeks and then at 15 to 18 weeks gestation.

The study found that screening in the first three months of a pregnancy provided a detection rate of Down syndrome of up to 87%, and that other combinations of screening produced a detection rate of 96%.

The leader of the study, which involved the coordination and analysis of results from 15 US centres, was Prof Fergal Malone, Chairman of the Department of Obstetrics and Gynaecology at the Royal College of Surgeons in Ireland and the Rotunda Hospital.

Prof Malone said concern regarding Down syndrome causes considerable anxiety for pregnant women, especially those aged over 35.

He said the testing approach adopted in the study picks up over 95% of cases of the condition, which is a huge step forward and provides reassurance to the vast majority of women in the very early stages of pregnancy.

Traditional tests for Down syndrome, chorionic villus sampling or amniocentesis, both carry a small risk of miscarriage.

Prof Malone says the new research shows that the vast majority of women can avoid these tests by using ultrasound and blood tests instead.

These pose no risk to pregnancy and give reassurance to the patient early on.

He added that women who are interested in the reassurance that these tests provide should be asking their doctors or midwives for early access to combined ultrasound and blood tests.

He stressed that having an ultrasound test on its own is no longer sufficient and it should be combined with blood tests before the 13th week of pregnancy to test for Down syndrome.

Prof Malone stressed that there are technical challenges for health prpfessionals in performing the special ultrasounds involved properly, as measurements that are off by even a fraction of a millimetre can give very inaccurate results.

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Anonymous - 17/11/2005 12:33

what exactly does the blood test involve? blood from the mother?

jayc - 17/11/2005 13:52

why is it only women 35 and older are being given this serious of tests .It is not only older women that have downsyndrome children, case in point my 21 year old neice had a downs baby boy two months ago and according to his pedeatrition it is becoming more and more common for younger women to have downs children.These tests should be manditory for all pregnancies a its a worry for all women....

Anonymous - 17/11/2005 14:16

Glad to see that some of the worry can now be eliminated!

Anonymous - 17/11/2005 14:25

The correct term is Down syndrome.

Anonymous - 17/11/2005 15:29

I think this is great news. It can take away a lot of worryt for the more mature mother as thoe over 35 have higher risk of having a baaby with Downs'. That said I don't think it should be mandatory.

BB - 17/11/2005 15:54

The way this article has been written, you\'d swear Prof Fergal Malone had made some great discovery and we should all jump for joy. Other countries have been running these ultrasound tests for years as part of their default screening for any pregnant woman - UK, France - how close do you want to look? It isn\'t improvements in ultrasounds, it\'s improvements in ultrasounds in Ireland. I got my ultrasound done in France in 2003 as I found it nigh impossible to get this done here, unless if I was coughing up over 3 grand for a private obs. Also the improvements in equipment is no good if the person carrying out the ultrasound does not have the skills and ability to firstly gather the dimensions correctly. Wasn\'t it only about 6 months ago that it was in the news that 95% of ultrasounds carried out in Ireland were unable to identify any abnormalities that should have been found.... I notice the article doeesn\'t suggest how women should go about getting this done...nor does it say how much this study cost... The blood test has been around for years, and is available to anyone. It is not as accurate as the u/s, as far as I am aware.

Anonymous - 17/11/2005 18:29

I have just had the test carried out. It is called the Primark test and can be done in the Rotunda hospital. I happen to be over 35 years of age but it is open to all pregnant women, so there is no discrimination there. It is just that women over 35 have a higher risk of anomalies such as Down Syndrome with their pregnancies.

jr - 17/11/2005 21:15

so you do the test , its positive ... then what ?

Anonymous - 18/11/2005 09:03

That's stange BB, MY aunt had her last pregnabcy at 41 and that was 14 years ago and she had an ultrasound and blood test to detect Downs' Syndrome in her baby

Anonymous - 18/11/2005 10:27

can someone tell me whats happens for the women over 35 who attend a different maternity hospital ,i am 2 months pregnant and am 38 and would love to have this test done as i am quite concerned about if this happened to my baby,its on my mind all the time and would love way of having my worries cleared up

Anonymous - 18/11/2005 11:32

And then Jr, you can [prepare yourelf mentally for parenting a special child and the care team will be able to prepare in advance for any special facilities the babay may need at or sortly after birth due to his / her condition.

BB - 18/11/2005 11:47

Hi Anonymous - I rang every maternity hospital when pregnant looking for the u/s in 2003 and they all said the earliest they could take me was 15 weeks, which is too late for the u/s so off I headed to France, which anyway was cheaper - of course when I complained when I did get my first appointment I was told it could be done easily privately by the obs of the maternity hospital, but sure it was too late at that stage. None of the private clinics offered the NT scan at that stage anyway. But your comment just proves my point, it is not new news at all from Prof Malone.

lavender - 18/11/2005 22:11

Having had a sister with Down Syndrome who was loved very much, I still could not imagine continuing a pregnancy if I was told that the baby would have it. Especially if it was at an early stage of pregnancy. I watched the difficulties my parents had with a chronically ill child who would never be able to fend for herself and swore it would never happen to me, I just would not have the strength and fortitude to cope. Instead, because it usually affects older women, myself and my partner have made the decision that we will not have any more children now that we are in the older age group. He has had a vascetomy to ensure there are no 'mistakes'.

darina - 10/11/2006 18:44

my last baby was born with down syndrome 2yrs ago and if i had known while preg i would have lost my mind as at the time i worked in a hospital and dealt with severe disability and would have assumed mine would b the same.[wrong] he is gorgous and woulndt swap him for 17weeks preg again and im more anxious to know this time bt wnt see the doc till week 20 is it too late to have tests done then does anyone know/help

Anonymous - 30/11/2006 20:53

I am thirty five and pregnant with my second baby. My first was born in Australia and I chose not to have the Nuccal Tranlucency scan as I would not have done anything with the result. (Incidentially when I refused i was asked by the receptionist what about if I wanted to get rid of it....) However i did opt to have the regular scan which is done at 19weeks in Australia as this timing has been identified as the most accurate time to do a scan. The scan took almost 1 hour 30 mins and every detail was measured- position of eyes ears, lips, palate, genitalia etc to outrule abnormalities. I chose to have this scan so that if there was any abnormality detected I would have tme to decide on an action plan post birth if required. this time I had my scan at 20 weeks and found it was quite basic..there was a mention of a heart defect but the sonographer said that she was NEARLY sure that everything was ok and did ask someone elses opinion who was 'thought' that it was ok...I asked about checking for cleft palate and lip as there can be an association between these defects and heart defects but I was told that that doesn't get checked here. I felt and still feel uneasy as i am not convinced that there is no heart defect. I did discuss with this with my GP and she told me that there was a high number of undiagnosed heart defects in Ireland and suggested that I have a repeat scan but i was unable to convince the hospital of this necessity. So I wait with baited breath....... Downs syndrome is a diagnosis that can be made easily but we as the parents having the scans and the babies should'nt get hung up on this alone and we should be demanding a much higher quality scanning service in general so that if there any defects we will have time to decide on what we thing will be the best for our baby post birth should any thing be diagnosed. Of course if parents would rather not know about defects and abnormalities they should be made aware of what can be diagnosed so thay can decide if they want the scan or not.

goaskalice - 30/05/2008 18:22

I'm nearly 34 weeks pregnant. I'm 24 and it's my first pregnancy. I'm having trouble with my pregnancy. She's not growing properly, small for dates and they've mentioned Downs. It's very hard to take it in when I'm still quiet young. I never had the test and I'm glad coz what do women do when they know for they honestly get rid of the baby. No way, as scared as I am and how I want her not to have Downs syndrome, this is the hand I've been dealt and I just have to do the best I can. can anyone tell me any tell tale signs. I seen her face perfectly on an ultra sound today. She had a really chubby face and her nose looks big enough.

Judy - 03/06/2008 09:59

Alice, for many women, when they know for sure, it gives them time to prepare mentally if their baby has down's and also to research what resources they will have and what they'll need. It also gives medical staff a chance to prepapre for any extra resources which will need to be on hand for the birth should any down's related complications arise. Do some women terminate? Possibly they do if a baby with down's is just too much for them to cope with. To be sure after the birth, there are probably a number of tests which can be done within days - probably before you leave the hospital

BB - 03/06/2008 11:46

It is often the case that a baby with Down's Syndrome has a heart defect, I know when I got my scan done with specific emphasis on finding defects they checked heart, bridge of the nose, cleft nose and palate, as they can go hand in hand. But a small baby does not automatically mean Down's...some babies have Intra Uterine Growth Restriction I think the medical name is, and you can check it up. Both my sister and a friend of mine were monitored for this and their kids are perfect now. Good luck with your baby.

Anonymous - 07/06/2008 22:01

hi alice - I hope all is well with you and your baby - maybe he or she is just a cute little petit baby. don't think the worst, remember you have been scanned so despite the fact that you are having a small baby all must have been well. all the best - not long to go and you will meet the cute bundle.

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