Prenatal Screening for Down’s Syndrome

A first time mum came to me this week overwhelmed by her options around screening tests for herself and her unborn baby. She had been bamboozled by the options particularly around screening for Down’s syndrome.

Down’s syndrome is the most common genetic condition to be found in humans and the genetics behind it are relatively well understood, which is why screening has been made available for it. Babies born with Down’s syndrome generally have a learning disability and an array of physical attributes characteristic of the condition as well as being more likely to get other physical complications such as heart problems. The life expectancy of these babies is reduced although with health advances this is increasing all the time.

Currently, women having antenatal care in the NHS are offered the combined test between 10 and 14 weeks of pregnancy. The test looks at blood tests measuring hormones and a special ultrasound of the baby looking at the fluid at the back of the baby’s neck (nuchal scan). The woman is also offered the opportunity not to have the screening at all. It is important for the woman to be counselled about these options and what she would do should she receive an abnormal screening test.

The combined test is not diagnostic; it gives a woman a probability of her baby being at risk of having Down’s syndrome. If she is found to be high risk she is then offered non-invasive prenatal testing (NIPT). This is a relatively new option on the NHS. This test is also not diagnostic but its false positive rate is far less than for the combined test. If women are found on this test to be high risk of having a baby with Down’s syndrome they are then offered a diagnostic test: amniocentesis or chorionic villus sampling. You can read more about these here: http://bit.ly/amnioNHS and http://bit.ly/CVSNHS. They are not without risk.

Women choose to have screening +/- diagnostic tests for different reasons. Some want to know if they are going to have a baby with Down’s syndrome so that they can prepare for this. Others want to know so that they can have the option to terminate the pregnancy. It is a woman’s right to choose and it is really important she understands her choice every step of the way.

A woman can pay privately to go straight for the NIPT as early as 9 weeks depending on which type of NIPT she chooses. You can already see why she was in a dilemma. Firstly the woman had to understand Down’s syndrome, then choose from the tests available and finally consider what she would do should she find out she was high risk of having a baby with Down’s syndrome at each stage of testing.

Here are some resources for understanding Down’s syndrome:

https://patient.info/health/downs-syndrome-leaflet

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

http://www.bbc.co.uk/programmes/b07ycbj5

Here is a resource to help you as a mother or couple decide what to do should you find your tests show a pregnancy high risk for Down’s syndrome: http://www.arc-uk.org/for-parents/decision-making

Here is a resource about pre-natal screening on the NHS: https://www.nhs.uk/conditions/pregnancy-and-baby/screening-tests-abnormality-pregnant

This blog aimed to help women to understand a bit more about screening options during early pregnancy for Down’s syndrome. It is a complex area and it is recommended that women discuss their options with their partner/friends/family and their midwife/doctor to come to a decision they are happy with. No two women are the same and this is an individual decision but there are plenty of people out there to support women to make it. I hope this blog helps.

My next blog will be for women undecided about whether to go for the NHS screening programme or whether to pay privately to go straight for NIPT.

Any questions or comments do get in touch @PregnaPouch or PregnaPouch@gmail.com.

Best wishes and Good Luck

The PregnaPouch team

THIS BLOG IS FOR GENERAL INFORMATION BUT IF YOU HAVE ANY CONCERNS ABOUT YOUR OWN PHYSICAL OR MENTAL HEALTH OR IN FACT CONCERNS OF ANY OTHER NATURE, YOU MUST SEE YOUR OWN HEALTHCARE PROFESSIONAL.  THE CONTENT IS WRITTEN AT A POINT IN TIME. DEVELOPMENTS MAY BE MADE FOLLOWING PUBLICATION, MAKING THE BLOG OUT OF DATE, WHICH WE CANNOT BE HELD RESPONSIBLE FOR.  SO IF IN DOUBT, ABOUT ANYTHING, SEE YOUR HEALTHCARE PROFESSIONAL OR LOOK AT A WEBSITE WHICH IS FREQUENTLY UPDATED.  IF YOU COMMENT ON THE BLOG, WE WON’T USE YOUR CONTACT DETAILS TO SEND YOU SPAM.  WE CANNOT BE HELD RESPONSIBLE FOR THE PRIVACY PRACTICES OR THE ACTIONS OF OTHER BLOG COMMENTERS OR WORDPRESS OR FOR THE RECOMMENDED WEBSITES.  FOR FURTHER INFORMATION ON OUR DISCLAIMER SEE OUR Q&A SECTION ON OUR WEBSITE, ANY FURTHER QUESTIONS ON THIS DISCLAIMER OR ANYTHING ELSE, PLEASE DO EMAIL US.
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