ann tabor nipt til nnfm
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NIPT as second line test in Denmark
Ann Tabor
Center of Fetal Medicine, Rigshospitalet
Copenhagen University Hospital
Denmark
NNFM Göteborg 2015
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
Total number of invasive tests
Danish Cytogenetic Register
0
1000
2000
3000
4000
5000
6000
7000
8000
200020012002200320042005200620072008200920102011
Nu
mb
er o
f in
vasi
ve t
ests
Invasive procedures
0
500
1000
1500
2000
2500
3000
3500
4000
4500
CVS
AC
Danish Cytogenetic Central Register 2013
Detection rate of T21 and screen-
positive rate of first trimester screening
% % 86
92 8982
88 90 88 90 92
0
20
40
60
80
100
0
1
2
3
4
5
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
T21
Det
ekt
ion
srat
e %
Risk cut-off
Data from 2009-2012
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
T21
Det
ekt
ion
srat
e %
Risk cut-off SPR 5.1% SPR 2.5%
Data from 2009-2012
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
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
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
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
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
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
NIPT in Denmark 2015
• Different NIPT assays
available, at least 3 centers
• Different strategies in the
different regions
NIPT in Denmark 2015
• Different NIPT assays
available, at least 3 centers
• Different strategies in the
different regions
• Still fighting for a national
policy