The Harmony test

What is the Harmony test
The Harmony test - also known as Non-Invasive Prenatal testing or NIPT - is a blood test which can test for various genetic abnormalities including Downs Syndrome, Edwards Syndrome and Patau Syndrome. It is being rolled out slowly in the UK to replace the CVS and Amnio testing usually done after your 12-week scan.
The Harmony test can be taken as early as 10 weeks into your pregnancy and has a false positive rate of just 0.1%. With the Harmony test, you can expect to receive your results within 10 working days.
One of the great things about NIPT it completely eliminates the risk of miscarriage for fetal testing, which with Amniocentesis is 1% and CVS is 2%.
What is Amniocentesis?
Amniocentesis is one of the current procedures used to diagnose genetic abnormalities in an unborn baby. The procedure involves taking a sample from the amniotic sack that surrounds and protects the fetus. It can be dangerous though as a slight miscalculation can cause irreparable damage to the sack resulting in miscarriage.
What is CVS?
Chrionic Villius Sampling - or CVS - is another procedure offered by the NHS currently to diagnose genetic conditions. This procedure involves taking a sample from the placenta and of course carries the risk of damaging the placenta meaning a miscarriage occurs.
What are the perks of having the Harmony test?
Besides carrying no risk of miscarriage there are several other perks of having the Harmony test during your pregnancy.

  1. Is done early as to make an informed decision - There is no judgement here on Raising Harry. We understand that having a child with special needs is a personal choice and feel that by having the test early you can do all the research you feel you need to to make an informed decision and that is exactly why we started this website. It's nothing to be ashamed of.
  2. Can test for other things - With the Harmony test, you can also get what is called X Y testing which means that you can find out the gender of your baby but it also tests for things such as XXY.
  3. Low false positive rate - With being over 99% accurate you can trust the information you are given.
How has the development of the Harmony test affected children with special needs?
The development of the harmony test in different countries has affected the rate of children with special needs born.
Termination rates for downs syndrome
U.K - 90%
France - 77%
U.S  - 67%
Denmark - 98%
Iceland - 100%

But why are the termination rates so high? I think, honestly, it's fear and misinformation. And that is why I wanted to start this website, to show the positives of having a child with special needs.


I am all for the Harmony test, from my personal point of view it is a good thing if having a child with special needs is something you feel strongly about, and the main positive for me is the fact that there is no risk of miscarriage makes this the best thing, and while it is not available on the NHS at the moment if you can afford it (runs at roughly £400 for the testing and  private scan) I would highly recommend getting it.
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What is Klinefelters Syndrome?

Klinefelters syndrome is a genetic syndrome caused by a male having two X chromosomes, also commonly called XXY or Double X Syndrome. Usually a female has two X chromosomes (XX) and a male has one X and one Y (XY). Having an extra X chromosome does not mean that someone who has Klinefelters is not male because they still have that  chromosome.
Symptoms of Klinefelters include;  
  1. Learning to crawl, sit up, walk and talk later then others - This like downs syndrome is caused by low muscle tone and doesn’t mean that boys who have Klinefelters will never be able to but just may be a little slower.
  2. Quiet and passive personality – Not necessarily true and anyone who has met Harry will completely agree with that!!! However boys with Klinefelters have been known to be quieter and more passive then other boys their age, although this can just be shyness!
  3. Learning difficulties – Issues with reading, writing and spelling. Also boys with Klinefelters are also commonly diagnosed with dyslexia
  4.  Height – How jealous I am of this!! Me with my tiny 5”1 height! Likelihood is though Harry will be very tall!
  5.  Reduced facial and body hair – May be less but may also just develop later.
  6. Wide hips and in severe cases breasts develop.
  7.  Low sex drive
  8.  Infertility
  9. Small penis and testicles

While some males who have Klinefelters will experience all of these symptoms some will have few or none. There is no guarantee and some males go undiagnosed until issues with fertility or other issues.
Health issues are also common with Klinefelters as the risk is slightly higher especially for certain issues such as;
  1. Type 2 diabetes
  2.  Weak and fragile bones
  3. Cardiovascular disease
  4.  Blood clots
  5.  Under active thyroid
  6.  Anxiety
  7. Depression
  8. Male breast cancer

Again none of these are guaranteed.

Klinefelters is incurable, however it is manageable with things such as testosterone therapy (usually given vial injections) to help the body with its lack of testosterone physio therapy to help with muscle tone development and breast reduction.

Not much more is known about Klinefelters, and Harry having both Klinefelters and Downs is incredibly rare (we worked it out as chances of having a child with both at my age being about 1 in 4.5 million) and so not much is known how it will effect Harry is the future and so we are just taking  everything as it comes.


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