Amniocentesis and chorionic villus sampling Flashcards
What is the combined test for Down’s syndrome?
- Done at 11-13+6 weeks
- Nuchal translucency + serum Beta-hCG + serum pregnancy-associated plasma protein A (PAPP-A)
- Down’s syndrome more likely:
(i) increased nuchal translucency
(ii) high beta-hCG
(iii) low PAPP-A
What is the quadruple screening test?
- Done if late to antenatal screening (15-20 weeks)
- AFP + unconjugated oestriol, beta-hCG, inhibin A
- triple test does not include inhibin A
- Down’s syndrome more likely:
(i) AFP - Low
(ii) Unconjugated oestriol - Low
(iii) beta-hCG - High
(iv) Inhibin A - High
How would you define chorionic villus sampling to a patient?
CVS is a procedure that is carried out during pregnancy to diagnose or exclude various chromosomal or genetic conditions
Take a sample of placental tissue to do these tests
Why might a woman be offered CVS during her pregnancy?
- High chance of baby having Down’s syndrome
- If they have previously had a baby with a chromosomal or genetic condition
- If one parent has, or both have, a genetic disorder or are carriers for a genetic disorder
- If there is a history of certain genetic conditions in the family
When is CVS usually offered?
Beginning of the 11th week and end of the 13th week
What screening is done before CVS is performed?
- Screen for HIV and Hep B if it has not already been done
- May also offer to screen for Hep C
- If you have any of these infections, CVS can increase the risk of passing them onto your baby
How long does a CVS take to do?
Whole procedure takes approximately 10 min, but the appointment usually takes longer because you will need time to rest afterwards
Describe transabdominal CVS.
- First do an USS to check the position of baby and the placenta, and to identify the best place to take a sample of placental tissue
- Doctor will use the USS throughout to guide them during the procedure
- May be given local anaesthetic to numb an area of skin of your tummy
- Fine needle is then passed through your skin, into your womb, and into the placenta
- There is a syringe attached to the end of the needle and allows a sample of tissue from the placenta to be drawn up into the syringe
- Another USS to make sure baby is okay
Describe transvaginal CVS.
- First do an USS to check the position of baby and the placenta, and to identify the best place to take a sample of placental tissue
- Doctor will use the USS throughout to guide them during the procedure
- A speculum is inserted into the vagina
- A fine tube is then passed through the neck of your womb, into the womb so that a sample can be taken from the placenta
- Another USS to make sure baby is okay
What are the benefits of CVS over amniocentesis?
- Can be done earlier
- Decision about what you would like to your pregnancy can be made sooner
- If you decide to terminate pregnancy then can be done through a simple surgical procedure, with amniocentesis labour may need to be induced
What complications are associated with CVS?
- Miscarriage
- slightly higher than amniocentesis (3 in 200)
- because CVS is carried out earlier in pregnancy where the overall risk is higher anyways
- most miscarriages happen within 2 weeks of CVS - Infection
- risk is <1 in 1,000 women
- symptoms: fever, tenderness of your tummy, and contractions of your womb - Rhesus disease developing in the baby
- Rh -ve mum and Rh +ve baby
- If you are Rh -ve you will be advised to have an injection with anti-D immunoglobulin after CVS to protect the baby
How should a woman expect to feel after CVS or amniocentesis?
- Procedure can be a little painful, been described similar to a period pain
- Best to arrange for someone to drive you home if possible
- Take things easy over subsequent days
- Light spotting of blood from the vagina can be normal immediately after CVS
- Take paracetamol to help with the pain
What symptoms after CVS indicate that a woman should seek medical attention?
- Severe tummy pain
- Contractions
- Persistent back pain
- Continuous bleeding from your vagina
- A watery fluid loss from your vagina
- Smelly discharge from the vagina
- Fever
- Flu-like symptoms
How would you define amniocentesis to a patient?
- Procedure that is carried out during pregnancy
- Involves taking a sample of the amniotic fluid for testing to see if a baby has a chromosomal disorder such as Down’s syndrome
Why might a woman be offered amniocentesis?
- If they have previously had a baby with a chromosomal, genetic condition or other disorder
- If one parent has, or both have, a genetic disorder, or are carriers for a genetic disorder that could be passed on to the baby
- Certain genetic conditions in the family
- Other tests during pregnancy have raised the possibility that the baby has a chromosomal disorder such as Down’s syndrome
- If the baby has an increased risk of a chromosomal disorder because of maternal age