Silent Spring—III
Combined Screening Test For Down's, Edwards' And Patau's Syndrome
As part of your NHS antenatal care, from about 12 weeks into your pregnancy, you will be offered various scans, checks and tests to make sure that your baby is healthy and developing well. One of these tests, called the combined screening test, checks for Down's, Edwards' and Patau's syndromes.
You will be asked whether you want to have this test or not; you can refuse and no one will mind. And we reckon it's worth arming yourself with some info before you're asked to make that decision.
What are these syndromes exactly?All 3 syndromes are genetic disorders where a baby has an extra copy (or part of a copy) of a particular chromosome, leading to particular set of disabilities or growth problems. Both Edwards' and Patau's syndrome are very rare – and more serious – than Down's syndrome.
It's highly unlikely. It's thought that Down's syndrome affects 1 in every 500 pregnancies, while the much rarer Edwards' syndrome affects 1 in every 1500 pregnancies. Patau's syndrome is extremely rare and is diagnosed in fewer than 200 babies a year.
Will the combined screening test tell me for sure either way?No, we're afraid it's a little bit more complicated than that – as this test will only tell you whether there is a high chance or a low chance of your having a baby with Down's, Edwards' or Patau's.
If you're told your chance of having a baby with any of these conditions is low (as the vast majority of women are), you won't need any further testing; if you're told your change is high, you will probably be offered further, more accurate, tests. Some of these tests carry a (very small) risk of miscarriage.
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"It's fair to say that 95% of women who have the combined screening test get results which are low chance," says Jane Fisher from the charity Antenatal Results and Choices (ARC).
Do I have to have the combined screening test?No. It's completely up to you whether you have it or not. And, if you do decide to have it, you don't have to be screened for all 3 syndromes, if you don't want to.
So, you can choose:
Many pregnant women decide they do want to have the combined screening test because, if it did come back as a high chance, they'd then want to have the other more accurate tests – and, if those came back positive, they could either make a decision about whether to continue with the pregnancy or be prepared for what's to come.
For those who choose not to have the combined screening test, like MFM forum poster Ninja Pigeon, it's often more of a gut decision that knowing more wouldn't make any difference. "We didn't have any testing, over and above the normal ultrasound scan," she says. "We talked about it and we both agreed that we wouldn't terminate whatever, so the tests were redundant.
"But I don't think there's any right or wrong here. It's a very personal choice."
When do I have the combined screening test?You'll be offered this test towards the start of your NHS antenatal care, when you're between 11 and 14 weeks pregnant.
So what exactly does the testing involve? Why is it called 'combined'?"It is called the 'combined screening test' because it combines a nuchal translucency (NT) scan with a blood test," says Nigel Thomson, professional officer for ultrasound at the Society and College of Radiographers. "The NT scan is done (if you consent to it) during your 1st routine ultrasound scan, often called the dating scan or 12-week scan."
The results from the NT scan and the blood test age are then further combined with your age and the gestational age (how many weeks old your baby appears to be, according how long he or she measure, head to bottom, during your scan).
You may have the scan and the blood test on the same day, or they may be done separately.
The blood test is the usual needle-in-the-arm job and may be done by your midwife or a phlebotomist (someone who specialises in taking blood sample). It's common for the blood sample needed for the combined screening test to be taken at the same time as blood is taken for the routine pregnancy blood tests (to check your blood type and so on) – to save jabbing you in the arm twice.
"During the NT scan," says Nigel, "the fluid in the space at the back of your baby's neck is measured by the sonographer who's conducting your ultrasound scan." (Babies with abnormalities tend to accumulate more fluid in this space than average at this stage of pregnancy.)
Occasionally, and usually because of the way your baby is lying, it's not possible for the sonographer to get an NT measurement. If this is the case for you, you should be offered a 2nd scan. If it's still not possible to get a measurement then, you may then be referred for a quadruple test (a different blood test that screens for Down's but not Edwards' or Patau's) or, if your hospital offers it, a NIPT (a newer blood test that screens for dozens of conditions).
When will I get the results?You may be told the NT test result on the day you have your scan. But the length of time it take to give you your final combined test results varies and, obviously, often depends on whether you have the 2 tests done on separate days, and how long your hospital takes to process all the information gathered by the tests.
Generally speaking, you should hear in between 1 to 3 weeks.
What do the results mean?If you're given the NT test result separately, you'll be told the fluid measurement in millimetres: a measurement of 3.5mm or more suggests your baby could be at increased risk of Down's, Edwards' and Patau's.
But the result that really matters is the combined result, and that's the 1 that comes as a 'score'. Well, 2 scores: 1 for the chance of your baby having Down's and 1 for your chance of your baby having Edwards' or Patau's (combined).
"If you are told your chance is between 1 in 2 and 1 in 150, that's considered high," says Jane Fisher. But that doesn't mean your baby definitely has any of the 3 syndromes; it just means you may be offered other, more accurate tests.
Anything over 1 in 151 is considered low. "If you chance is reported as low," says Jane, "it is important to remember that this does not mean your baby definitely does not have a syndrome." It just means it is extremely unlikely – so unlikely, there's no need for further testing.
How accurate are the results? The combined screening test picks up more than 4 out of 5 (85 to 90%) of babies with Down's syndrome, Edwards' syndrome and Patau's syndrome.
But in 2 out of every 100 tests, the result may indicate that your baby has 1 of the syndromes, when he or she doesn't: a 'false positive'.
If I'm told my chance is high, what happens next?You will be offered an appointment with a midwife to discuss going on to have a further, more accurate tests. You don't have to have them if you don't want to.
You may be offered a new screening test called NIPT (also known as cffDNA), which is a blood test that offers a higher degree of accuracy in detecting Down's, Edwards' and Patau's. Some NHS hospitals offer NIPT but others don't yet offer it – although there are plans to starting offering it at all hospitals soon. You may be able to have a NIPT at your hospital if you're prepared to pay; alternatively, you could pay for it at one of the many private clinics that now offer it.
If you don't have NIPT, or if the NIPT result is positive, you are likely to be offered either amniocentesis or CVS – both of which are called 'diagnostic' tests because the results are so accurate (99%) that, if it's positive for Down's, Edwards' or Patau's, doctors will view it as a diagnosis. Both amniocentesis and CVS carry with them a small risk of miscarriage, so you'll have the difficult task of weighing up if it's worth taking that small risk to find out for (almost completely) sure.
Just be reassured that there will be lots of advice and support offered to you along the way. And you may find it helpful to express your feelings on our Chat forum.
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Scientists Have Pinpointed The Gene Responsible For Down Syndrome
Understanding the LinkHumans have 23 pairs of chromosomes in every cell in their bodies, except for their reproductive cells or gamete cells (sperm or egg), which contain 23 chromosomes. The reason why chromosomes come in pairs is that one pair comes from the egg, and the other from the sperm. So when gametes fuse with each other, they end up as a single cell having two copies of each chromosome.
Gamete cells are produced by a process called meiosis — a type of cell division with two rounds of nuclear division, to make sure that the number of chromosomes in the parent cell is halved. Sometimes, though, errors occur during cell division, which may result to offsprings having abnormal number of chromosomes — a phenomenon called aneuploidy.
Aneuploidy causes Down Syndrome — the most common genetic condition, Patau Syndrome, and other genetic disorders. It is also the leading cause of miscarriage.
Image Credit: iStock/koya79 Playing a Pivotal RoleThe research team, led by Dr. Prakash Arumugam from the National University of Singapore, noted how the process of meiosis can affect chromosomal irregularities: "Understanding how meiosis is regulated is of great importance to understanding the causes of aneuploidy and genetic disorders in human," said Dr Gary Kerr and the team, writing in the journal Scientific Reports.
The researchers have discovered a particular enzyme which plays an essential role in chromosome segregation in meiosis. They identified this enzyme as PP2ACdc55, which is involved in various cellular processes. It was also shown from the research team's previous findings that PP2ACdc55 plays a vital role in controlling the timing of meiosis, thus preventing the cells from prematurely exiting phases of cell division.
The scientists tracked the enzyme on yeast models using fluorescent tagging, and analyzed the resulting mutant yeast strains, characterized the mutations and determined the role of the Cdc55 gene. Their results suggest that the gene might have a role in meiotic chromosome segregation. This is, without a doubt, a step forward, but we still don't know what causes the process to go wrong.
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