Flashcards in 5 Deck (17)
What are the limitations of NIPD and NIPT?
Multiple pregnancies – cannot tell which foetus the DNA is from
High BMI – relative proportions of cffDNA is reduced in obese women
What are the three types of prenatal testing and which test fall under each category?
Non-invasive (ultrasound, MRI)
Minimally invasive (maternal serum screening, cell free foetal DNA)
Invasive (chorionic villus sampling, amniocentesis)
What can ultrasound tests be used for?
What is CVS and when is it done?
Chorionic villus sampling – take a sample from the chorionic villus which has the same genetic material as the foetus
What further tests are done to the DNA obtained via CVS or amniocentesis?
Karyotype QF-PCR (test for trisomies)
What are the eligibility criteria for Preimplantation genetic diagnosis (PGD)?
Female partner is under the age of 40
BMI above 19 and less than 30
No living unaffected children from this relationship
Both partners are non-smokers
What are the scans offered for a normal pregnancy?
Nuchal scan –10-14 weeks
Mid-trimester anomaly scan
All pregnant women should be offered ultrasound scans at 20-22 weeks as well
What is amniocentesis and when is it done?
Taking a sample of amniotic fluid through mother's abdomen – 16+ weeks
What is considered an abnormal nuchal translucency and what would such a result suggest?
In what situation is cell-free foetal DNA (cffDNA) testing offered?
Offered in particular if the baby has a chance of having an X-linked condition
When is maternal serum screening done?
11-14 weeks AND 16-20 weeks (Looks for different things)
What is cffDNA used to determine?
The sex of the baby (looks for the presence of the SRY gene)
When is a nuchal scan offered and what is it used to determine?
Date the pregnancy
Major foetal abnormalities
Risk of chromosomal abnormalities
What does maternal serum screening look for?
11-14 weeks = looks for presence of hCG and PAPP A
16-20 weeks = looks for presence of hCG, PAPP A, AFP and uE3
What are the benefits of NIPD and NIPT?
No risk of miscarriage Reduces the need for more invasive testing
What is the problem with invasive prenatal testing?
Small risk of miscarriage