Y2 ARC- Antenatal results and choices Flashcards
How many women access ARC support every year?
6500 women
What does ARC involve?
NIPT
Screening results
Diagnosis
ToPFA
What is the most import ant part of effective care?
Communication
What additional tests are done in pregnancy?
1st trim- CUBS (combined ultrasound and biomedical screening)
2nd trim- AFP/hCH/UE3?InhA screening
NIPT as second line screening
Routine anomaly scan at 20w.
It is super important to let everyone know that all of these screening tests are completely volontary.
TRUE
NIPT
Non-Invasive prenatal testing, checks babys blood cells in maternal bloodstream and is 99 % accurate.
What is the risk in % for CVS and Amniocentesis?
0.5%
Pregnancy screening
1st trim: Family origin questionnaire and haemoglobinopathy screen < 12 weeks.
11+2-14+1 Common trisomy’s
2nd trim: 14+2- 20+0 (Downs syndrome)
Fetal anomaly scan 18-20 weeks.
How common are T13, T18 and T21
Down syndrome (trisomy 21) 1 in 1000 live births
Edwards syndrome (trisomy 18)1 in 3000 live births
Patau syndrome (trisomy 13) 1 in 5,000 live births
Are these Sporadic/inherited
Most cases are sporadic
Some are due to unbalanced translocation
-Whole chromosome trisomy (Robertsonian translocation)
-Partial chromosome trisomy (reciprocal translocation)
A few due to mosaicism
Prenatal invasive tests
Chorionic Villus Sample/Amniocentesis
QF-PCR
Microarray
Targeted test for known genetic conditions