Ann Tabor, NNFM Nordic Network of Fetal Medicine meeting in Gothenburg 14-16th of April 2015.

1. NIPT as second line test in Denmark
Ann Tabor
Center of Fetal Medicine, Rigshospitalet
Copenhagen University Hospital
Denmark
NNFM Göteborg 2015

2. Uptake of first trimester risk
assessment
0
10
20
30
40
50
60
70
80
90
100
2005 2006 2007 2008 2009 2010 2011 2012 2013
%
2004

3. Total number of invasive tests
Danish Cytogenetic Register
0
1000
2000
3000
4000
5000
6000
7000
8000
200020012002200320042005200620072008200920102011
Numberofinvasivetests

4. Invasive procedures
0
500
1000
1500
2000
2500
3000
3500
4000
4500
CVS
AC
Danish Cytogenetic Central Register 2013

5. Detection rate of T21 and screen-
positive rate of first trimester screening
% %
86
92 89
82
88 90 88 90 92
0
20
40
60
80
100
0
1
2
3
4
5
6

6. 6
Performance at different cut offs
50
55
60
65
70
75
80
85
90
95
100
> 1:300 > 1:250 > 1:200 > 1:150 > 1:100
T21Detektionsrate%
Risk cut-off
Data from 2009-2012

7. 7
Performance at different cut offs
50
55
60
65
70
75
80
85
90
95
100
> 1:300 > 1:250 > 1:200 > 1:150 > 1:100
T21Detektionsrate%
Risk cut-off
SPR 5.1% SPR 2.5%
Data from 2009-2012

8. Newborns with Trisomy 21
Danish Cytogenetic Register
0
10
20
30
40
50
60
70
2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013
n

9. 2009-2012 Liveborn children with T21,
n (%)
Total 104
No risk assessment
Other ultrasound examinations
No ultrasound examinations
32 (30.8)
20 (62.5)
12 (37.5)
High risk ≥1:300
Prenatal karyotype
Postnatal karyotype
23 (22.1)
6 (26.1)
17 (73.9)
Low risk
Risk <1:300 to ≥1:1000
Risk <1:1000
49 (47.1)
23 (46.9)
26 (53.1)
Newborns with Trisomy 21
Miltoft et al. ISUOG 2014

10. 2009-2012 Liveborn children with T21,
n (%)
Total 104
No risk assessment
Other ultrasound examinations
No ultrasound examinations
32 (30.8)
20 (62.5)
12 (37.5)
High risk ≥1:300
Prenatal karyotype
Postnatal karyotype
23 (22.1)
6 (26.1)
17 (73.9)
Low risk
Risk <1:300 to ≥1:1000
Risk <1:1000
49 (47.1)
23 (46.9)
26 (53.1)
Newborns with Trisomy 21
Miltoft et al. ISUOG 2014

11. NIPT looking ahead in Denmark
• Process at National Board of Health
• Professional agreement on strategy
Danish Society of Fetal Medicine, Danish Society
of OB/GYN, Danish Society of Clinical Genetics,
Danish Society of Clinical Biochemistry

12. Suggestion for the clinical
implementation of NIPT in Denmark
• Maintain combined first trimester risk assessment
• Second-line screening test for high-risk group
Risk > 1:300 CVS / AC or NIPT
• Screening test for intermediate risk group
Risk 1:300-1:1000 NIPT
Risk < 1:1000 no further testing

13. NIPT looking ahead in Denmark
• Process at National Board of Health
• Professional agreement on strategy
Danish Society of Fetal Medicine, Danish Society
of OB/GYN, Danish Society of Clinical Genetics,
Danish Society of Clinical Biochemistry
• National Board of Health: no national plan
for implementation of NIPT

14. NIPT in Denmark 2015
• Different NIPT assays
available, at least 3 centers
• Different strategies in the
different regions

15. NIPT in Denmark 2015
• Different NIPT assays
available, at least 3 centers
• Different strategies in the
different regions
• Still fighting for a national
policy