Pregnancy App Article: "Amniocentesis"

Week 16
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Testing for birth defects
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Amniocentesis gives a more reliable indication of the risks of your baby having an abnormality or serious health condition than routine pregnancy screenings. 

If you're offered one, it will normally be performed between 16-22 weeks, but remember: you're under no obligation to have antenatal tests unless you choose to do so.

Amniocentesis tests for:
  • Down's syndrome 
  • Edwards' sydrome 
  • Patau's syndrome 
  • Sickle cell disease 
  • Thalassaemia 
  • Cystic fibrosis
  • Muscular dystrophy
  • Tay-Sachs disease 
  • Neural tube defects such as spina bifida 
  • Rhesus disease 
  • Infections  
What happens during amniocentesis?
The procedure involves taking a sample of amniotic fluid - the water that surrounds your baby in your womb, which contains cells shed from your baby - and testing it for various conditions. 

During the amnio, a needle will be pushed through your abdomen and uterus, guided by ultrasound in order that it enters away from the place where your baby is lying.

An initial test on the fluid, which identifies Down's, Edwards' and Patau's syndromes, gives results within a few days with almost 100% accuracy.

The full chromosome analysis - also known as a karyotype test - takes longer (up to three weeks), but is also extremely accurate; only around 1% of tests will be inconclusive.

Amniocentesis can also tell the sex of your baby (in fact, it's the most accurate means of determining gender before birth), so make sure you tell medical staff beforehand if you don't want to know.        
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The amnio itself wasn't too bad - the needle didn't hurt, and withdrawing the fluid was a weird and slightly uncomfortable pulling sensation. To be honest, the most painful thing was my partner squeezing my hand too hard.
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I wanted a diagnostic test that would tell me 'yes' or 'no'. I understood all the risks and I honestly don't know what I would have done if the results had not been normal. You must do what is right for you.
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Is there any risk?
The test itself is not painful, and there's no need for an anaesthetic. However, amniocentesis is an invasive procedure, so it does involve a degree of risk, to you and your baby. 

The risk of miscarriage resulting from an amniocentesis is about 0.5-1%. There's also a risk of infection, caused either by the needle puncturing the bowel, or from contaminants entering your body via the needle; however, this will happen to fewer than one in 1,000 women. 

Small amounts of blood and a little cramping following the procedure are not uncommon, and it's worth taking it easy for several days afterwards. If you feel unwell - shivery, feverish or as if you're having contractions - go to your doctor for advice. If you are rhesus negative, you may need an Anti-D injection.

What will the results mean?
Although a negative test result does not rule out all genetic disorders, it does rule out the ones that have been specifically tested for. 

A positive result can be deeply upsetting for you and your family. It's important to take time to digest the news, and find out more about the particular condition with which you're dealing. 

You may find counselling useful in helping you to adjust and, if necessary, to reach a decision about whether or not you feel able to continue with the pregnancy. Mumsnet can be a tremendously helpful resource at a time like this, too: there are many, many women on the boards who've faced similar circumstances and can offer you insights and empathy.
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