Valerie Gommon Midwife’s Blog

Archive for the ‘Downs Syndrome’ Category

During your pregnancy you will usually be offered the following blood tests: www.screening.nhs.uk/anpublications/screening_tests.pdf

Full Blood Count – Mainly to test for anaemia

Blood Group – In case you need a blood transfusion
Rhesus group and antibodies – To look for unusual antibodies in your blood/to screen for potential rhesus disease

Rubella antibodies – To check your immunity to rubella (German measles)

Syphilis – To check for syphilis which although very rare could be harmful to you and your baby if untreated

Hepatitis B – An infectious liver disease

H.I.V. – If you are HIV positive treatment can be offered to both you and your baby

Sickle Cell and Thalassaemia – These are genetic blood diseases, usually specific to certain populations (if you feel your ancestors may come from these areas it may be wise to be tested) – we are moving to “universal” testing for these conditions, i.e. that everyone is offered the blood test

* Parts of Africa (the region south of the Sahara Desert)
* Spanish-speaking areas like South America, Cuba, and Central America
* Saudi Arabia
* India
* Mediterranean countries, such as Turkey, Greece, and Italy

Serum screening – This testing performed at around 16 weeks of pregnancy will give a risk factor (high or low) for your baby having Down’s syndrome and neural tube defects (spina bifida). You need to think carefully what you would do with the result. Further investigations such as detailed ultrasound scan or amniocentesis may be offered if you have a high risk result. Amniocentesis gives a definite result but incurs a small risk of causing miscarriage.

You will probably be offered repeat Blood Group and Full Blood Count later in pregnancy.

Ultrasound scans can be performed to:
* date/confirm pregnancy
* Check physical structure of baby
* Nuchal fold – checking for any anomalies in structure of baby
* Assess fetal wellbeing, growth, liquor volume

Many areas are now offering a combined early pregnancy scan and nuchal fold scan – this may be combined with a biochemistry blood test to assess your risk of having a baby affected by Down’s or other Syndromes – in this case the serum screening at 16 weeks in not needed.

It is important to remember that all these tests are OPTIONAL – you can have any, all or none of the above tests after discussing the options with your midwife.

Please do feel free to email me if you have any specific questions: info@3shiresmidwife.co.uk

You will be offered regular appointments with your midwife or doctor (frequency of appointments is usually decided by clinical need); they will offer to:

  • monitor your blood pressure
  • analyse your urine
  • assess the baby by palpating (feeling) the size and position of the baby
  • listen to your baby’s heartbeat
  • question you for signs of any potential problems

You will also be offered the following blood tests:

Full Blood Count – Mainly to test for anaemia
Blood Group – In case you need a blood transfusion at the birth
Rhesus group and antibodies – To look for unusual antibodies in your blood/to screen for potential rhesus disease
Rubella antibodies – To check your immunity to rubella (German measles)
Syphilis – To check for syphilis which although very rare could be harmful to you and your baby if untreated
Hepatitis B – Testing for this infectious liver disease
H.I.V. – If you are HIV positive treatment can be offered to both you and your baby
Sickle Cell and Thalassaemia – These are genetic blood diseases, usually specific to certain populations (if you feel your ancestors may come from these areas it may be wise to be tested)

  • Parts of Africa (the region south of the Sahara Desert)
  • Spanish-speaking areas like South America, Cuba, and Central America
  • Saudi Arabia
  • India
  • Mediterranean countries, such as Turkey, Greece, and Italy

Tay-Sachs – most commonly prevalent in Eastern European Jewish populations

Serum screening – This testing performed at around 16 weeks of pregnancy will give a risk factor (high or low) for your baby having Down’s syndrome and neural tube defects (spina bifida). You need to think carefully what you would do with the result. Further investigations such as detailed ultrasound scan or amniocentesis may be offered if you have a high risk result. Amniocentesis gives a definite result but incurs a small risk of causing miscarriage.

Usually repeat Blood Group and Full Blood Count testing will be offered later in pregnancy.

Ultrasound scans can be performed to:

  • date/confirm pregnancy
  • check physical structure of baby nuchal fold – checking for any anomalies in structure of the baby
  • assess fetal wellbeing, growth, liquor volume

I was interviewed on my local radio station about this issue recently, and I can’t help feeling that I didn’t do the subject justice.  The station called me and I was on the air within minutes, and although I had previously heard and discussed the news story I don’t feel completely at ease with what I said.

It is really interesting that more babies are being born with Down’s Syndrome, what are the reasons?  Well I guess firstly women are tending to have babies later and age may be a factor, but I hope it is because women are being given accurate information and actually feel they have a choice.

NHS booklet ‘Screening for Down’s syndrome in Pregnancy’ can be found at:

http://nscfa.web.its.manchester.ac.uk/cms.php?folder=54#fileid170

http://www.downs-syndrome.org.uk/

I have heard of a recent birth where the baby has Down’s Syndrome and when asked how she was feeling the mother said “Wonderful” – isn’t that just fantastic.  I believe that they were aware that they were at increased risk of having a baby with Down’s Syndrome, so were perhaps to some extent prepared for the news.

Obviously this is such a personal decision.  Some families know that they would not want to bring a child with additional problems into the world, but as a colleague recently said to me “special babies are sent to special families”.

Antenatally the screening decision is a difficult one, and one that I hate raising … it is “congratulations you are pregnant … oh and by the way do you want screening to check for abnormalities in your baby” – okay, I exaggerate, but the decision needs to be taken quite quickly, and it is usually at the first meeting that I need to be offering screening.

We have so much screening available now, nuchal fold scan, chorionic villus sampling, blood tests, amniocentesis and detailed scans – great, but a minefield for prospective parents to negotiate.  Some will know that they want all available tests, but some will know that they definitely would not terminate a pregnancy and so do not choose testing.  I usually point out that some people prefer to be prepared for a potential problem, perhaps so that they can give birth within a specialist unit … but how can they really know how they will feel.  Most prospective parents admit that they take the testing expecting all to be well, they may also be unaware that it isn’t just Down’s Syndrome, but a range of conditions that are screened for.

So what advice can I give you?  I would encourage you to read as much as possible, to inform yourself of the risks and benefits of any testing and to speak to your midwife before you opt into any tests.


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