Testing

Question 1

Karyotyping

Answer 1

Count, pair, structure (10-14 days for culturing)

Question 2

RAD: QF-PCR

Answer 2

Quantitative Fluorescence Polymerase Chain Reaction (more cost effective, detects mosaicism, detects MCC)

Question 3

RAD: FISH

Answer 3

Fluorescence In Situ Hybridization (less cost effective, can’t detect MCC)

Question 4

RAD will lead to significant numbers of children born with undetected CA

Answer 4

Caine (2005)

Question 5

Early amniocentesis risks

Answer 5

(Miscarriage, club foot, more technically demanding, more needle insertions, more lab failures, more false negatives) Whittle, 1998

Question 6

Amniocentesis advantages

Answer 6

Tests foetal cells directly, no MCC, ultrasound guidance

Question 7

Amniocentesis risks

Answer 7

NHS Choices (2016) 1% miscarriage, placental puncture, infection, Rhesus disease (maternal negative foetal positive)

Question 8

Amniocentesis and late termination (Ground E)

Answer 8

Royal College of Obstretricians and Gynaecologists (2012) 37% pregnancies terminated under Ground E, Down Syndrome accounted for 22% of these cases

Question 9

Risks of late termination (survival)

Answer 9

Royal College of Obstretricians & Gynaecologists (2010) Royal Society of Family Planning (2011) After 22 weeks, foetus may survive briefly, long term survival possible after 25 weeks (medical/palliative care)

Question 10

Chorionic Villus Sampling 1-2% miscarriage risk, personal variables 0.9-1.53%

Answer 10

NHS (2013)

Wilson (2007)

Question 11

Abdominal and cervical equally effective but abdominal less repeat needle insertions, less bleeding, but lower weight of tissue

Answer 11

Brambati (1991)