Down Syndrome Counselling

University:
Western Sydney University
Course:
MEDI 2003 | Clinical Sciences 2
Academic year:

2024
Views:

236

Pages:

5
Author:

Mariam A. A.

Down Syndrome Counselling History and Counselling HISTORY What is making worry about down syndrome? do you have any diseases that you know of? Any previous surgeries? Are you on any medications? Do you have any allergies? Is there a family history of any diseases? Have you had a CST before or any STI screening? Obstetric history: Did you have any previous abortions or miscarriages? Where they induced or spontaneous pregnancies? Did you have any complications in them? What were the health of the babies? What is the mode of delivery? Menstrual cycle history Age of menarche Regular vs irregular Associated pain Flooding and leaking Duration Cycle length Sexually active? Social history Occupation, who do they live with, smoking, drinking, recreational drugs COUNSELLING ON DOWN SYNDROME It is when there are three copies of chromosome 21 – it is like there are three copies of book 21 on a bookshelf It is not really an inherited disease, rather happens as a result of random genetic mutations. The strongest risk factor is advanced maternal age Use of Ultrasound The ultrasound is only a screening test -> so it can only give us a risk, not a definitive diagnosis It can detect if there is an absent nasal bride We use it to measure the fluid space behind the neck of the foetus It is called the nuchal transulent space -> it is between skin and the soft tissue overlying the cervical spine (the posterior neck region ) of the fetus . It should be less than 3.5 mm -> however, this is limited to a certain window -> between 11 and 13 weeks Outside this window it becomes unreliable, as the space will increase with an increase in gestational age What to do Next When There is a High Risk of Down Syndrome The tests we have done so far are only screening – they only give us a risk but no definitive answer A risk of 1 in 40, mean that for every 40 women 1 will give birth to a child with down syndrome, and 39 will not. However, there two tests that are definitive There are CVS and amniocentesis CVS: Down between weeks 11 and 14 In it we will first perform an ultrasound to check the health of your baby, including the presence of any anomalies, AFI and placenta location. The area gets cleaned. To help with the pain, we can use a local anaesthetic Via ultrasound we will locate the placenta We will then insert a slender needle and then a finer one into it -> a small sample will be taken and analysed -> this will give us the karyotype However, since this is an invasive procedure, we may expose some of the baby’s blood to your blood which can make antibodies. If you have not already had anti-D and do not know your Rh status, we would need to give it to you within 72 hours of the procedure. If we go with the amniocentesis option we will still need to do that as well. Amniocentesis It is down after week 15 Similar to CVS we will do the ultrasound beforehand, clean and give you a local anaesthetic if wish. But we will insert a fine needle to get 16 mls of amniotic fluid -> we leave the needle in for 30 to 45 seconds This is also definitive At week 15 this is considered safer and better than CVS. Risks Both carry small risks of bleeding, infections or lots of fluid leak and a miscarriage risk. Usually amniocentesis has a smaller risk of miscarriage, but this may be attributed to the fact that is down at a later time