Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome.
OBJECTIVE
To map prenatal screening and diagnostic testing pathways in Victorian pregnant women during 2003 to 2004; measure the impact of prenatal diagnostic testing uptake on the effectiveness of prenatal screening for Down syndrome; and assess factors influencing uptake of diagnostic testing following screening.


METHODS
State-wide data collections of prenatal screening and diagnostic tests were linked to all Victorian births and pregnancy terminations for birth defects.


RESULTS
Overall, 52% of women had a prenatal test (65 692/126 305); screening (44.9%), diagnostic testing (3.9%), or both (3.2%). Uptake of diagnostic testing was 71.4% (2390/3349) after an increased risk screen result, and 2.5% (1381/54 286) after a low risk result. Variation in uptake of diagnostic testing reduced the effectiveness of the screening program by 11.2%: from 87.4% (sensitivity - 125/143) to 76.2% (prenatal diagnoses of Down syndrome - 109/143). In both the increased and low risk groups, uptake was influenced by absolute numerical risk, as well as by the change in numerical risk from a priori risk.


CONCLUSIONS
This comprehensive follow-up demonstrates clearly that numerical risk is being used to aid in decision making about confirmatory diagnostic testing. Collectively, these fundamental individual decisions will impact on the overall effectiveness of screening programmes for Down syndrome.
Public Health Genetics, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Rd, Parkville, Victoria 3052, Australia. alice.jaques@mcri.edu.au
Alice M
AM
Jaques
Veronica R
VR
Collins
Evelyne E
EE
Muggli
David J
DJ
Amor
Ivan
I
Francis
Leslie J
LJ
Sheffield
Jane L
JL
Halliday
D000028:Abortion, Induced / Q000706:statistics & numerical data; D000328:Adult; D000465:Algorithms; D002887:Chromosomes, Human, Pair 18; D003657:Decision Making; D004314:Down Syndrome / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D006801:Humans; D008403:Mass Screening / Q000379:methods* / Q000706:statistics & numerical data; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods* / Q000706:statistics & numerical data*; D015397:Program Evaluation; D014314:Trisomy / Q000175:diagnosis; D014739:Victoria / Q000453:epidemiology