Maternal serum screening for chromosomal abnormalities using four analytes (alphafetoprotein, free alpha and free beta chorionic gonadotropin, unconjugated estriol) was introduced as a service in South Australia in 1991. More than 85,000 pregnancies have subsequently been screened.
Between 1991 and 1997 the improving performance of the South Australian Maternal Serum Antenatal Screening (SAMSAS) Programme has had a significant impact on obstetric practice in South Australia.
Results
NEURAL TUBE DEFECTS SCREENING
YEARS TOTAL SERA RAISED NTD RISK DETECTED
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1991-1996 85,565 2,567 (3%) 89/103(86.4%)
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DOWN SYNDROME SCREENING
YEAR "increased risk" RECALLED DETECTED
14-34yrs 35+yrs
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1991-92 292/6513 122/516 5.9% 57.1% (4/7)
1993 324/9103 109/578 4.5% 55.0% (11/20)
1994 343/10821 123/714 4.0% 73.3% (11/15)
1995 453/10553 193/828 5.7% 64.7% (11/17)
1996 594/11188 251/937 7.0% 80.0% (12/15)
1997 563/10445 210/965 6.8% 81.5% (22/27)
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ADDITIONAL CONDITIONS SCREENED
PREVALENCE DETECTION
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Unsuspected Twin Pregnancy 1:1000 99%
Failed Pregnancy 1:1000 99%
69XXX (Triploidy) 1:15000 78%
Trisomy 18 (Edwards syndrome) 1:8500 70%
Overstated Gestational Age 1:100 99%
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IMPACT OF CHANGES IN OBSTETRIC PRACTICE ON
SAMSAS PROGRAMME PERFORMANCE
Accuracy of gestational age assessment is critical for good performance of maternal serum screening.
- 28.9% of all mothers in South Australia now have their pregnancies assessed by early ultrasound (less than 12 weeks gestation), increased from 15.1% in 1991.
- The number of specimens submitted from pregnancies more than 3 weeks overstated in gestation has fallen from 1.2% to 0.4% (90% of these produce an "increased risk of Down syndrome" result).
- Those medical centres which have highest use of ultrasound in gestational age assessment have fewest corrections of results following the issuing of an "increased risk" report.
The Use of Ultrasound Dating and
Correction of "increased risk" Results
Centre % g.a. by u/s % Corrected
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1 54.7 41.1
2 56.8 40.0
3 77.0 24.6
4 95.3 7.3
5 95.6 10.2
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IMPACT OF SAMSAS PROGRAMME PERFORMANCE
ON OBSTETRIC PRACTICEAs the detection of affected pregnancies has increased, the uptake of amniocentesis following the issuing of a report stating "increased risk of Down syndrome" has also increased from 64.9% to 85.1%.
Fig. 1: Amniocentesis uptake following an increased risk of Down syndrome result.
The increased acceptance of SAMSAS Programme results is most noted in mothers aged 35 years or more at delivery. The practice of offering these mothers amniocentesis as a first-line test for fetal Down syndrome is being replaced by offering amniocentesis only after a maternal serum screening result reports "increased risk".
The number of amniocenteses performed for each case of fetal Down syndrome detected has fallen from 169 (in 1991) to 58 (1997). This has had a significant impact on the number of healthy fetuses lost following amniocentesis. 1 healthy fetus is now lost for every 3 affected pregnancies found compared to 1 lost for every 1 affected pregnancy found in 1991.
OTHER IMPACTS
· the number of mothers aged more than 35 years at delivery in South Australia has increased from 9.2% in 1991 to 13.5% in 1997;
· the prevalence of fetal Down syndrome in the screened population has increased from 1.08/1000 births to 1.27/1000 births;
· the detection of affected pregnancies has increased to 80% in 1997 from 32% in 1991 (pre maternal serum screening);
· the number of women to whom amniocenteses is offered has fallen from 1840 (9.2% of population in 1991) to 1360 (6.8% of population in 1997) per annum;
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