Torbjorn Moe Eggboe, NNFM Nordic Network of Fetal Medicine meeting in Gothenburg 14-16th of April 2015.

1. Prenatal
tes*ng
in
Norway
Torbjørn
Moe
Eggebø
Na/onal
center
for
fetal
medicine

3. Norwegian
Biotechnology
Act
• Approved
in
2003
– Revision
should
be
performed
a@er
5
years
• Evalua*on
2009-­‐2011
• New
evalua*on
2015

4. Norwegian
Biotechnology
Act
• First
trimester
scan
(11
to
13+6
week
scan)
is
regulated
by
the
law
• The
rou*ne
second
trimester
scan
is
not
?

5. Indica*ons
for
prenatal
tes*ng
(including
KUB
test)
• >38
years
at
es*mated
day
of
delivery
• Previous
fetus
or
child
with
malforma*ons
• Using
drugs
associated
to
malforma*ons
• Suspected
malforma*on
in
an
ordinary
ultrasound
examina*on
• Special
situa*ons
when
the
parents
are
not
able
to
take
care
of
at
sick
child

6. KUB-­‐test
Combined
ultrasound
and
biochemistry
• Age,
NT,
HCG
and
PAPP-­‐A
• 90
%
sensi*vity
• 3-­‐5
%
false
posi*ve
rate
for
trisomy
21
in
an
unselected
popula*on
• 10-­‐12%
in
the
selected
Norwegian
popula*on

7. Autonomous
choices
”
It
is
only
when
choices
are
though[ul
and
informed
that
it
is
reasonable
to
call
them
autonomous
and
self-­‐determined.
This
is
important
in
expression
of
values
of
a
liberal
society.
Berge
Solberg

8. Choice
”
Most
parents
would
like
to
have
a
perfect
and
healthy
child
if
possible.
But
if
you
have
a
child
with
Downs
syndrome,
you
will
of
course
love
it.
If
you
can
choose,
you
would
prefer
a
normal
child”
Ann
Tabor

9. Age
38
• Women
>38
years
can
choose
themselves
• Women
<38
years
cannot

10. 1000
respondents
in
2010
(from
the
general
popula/on)
0
10
20
30
40
50
60
Vet
ikke
Alle
Ingen
Klarer
ikke
sykt
barn
Foreldre
med
genfeil
Tidligere
syke
barn
Vite
om
trisomi
21
Uro
Medisinbruk
38
år
The
majority
agreed
in
the
approved
indica*ons

11. Educa*on
of
sonographers

12. High
quality
is
necessary

13. The
first
trimester
scan
is
more
than
measuring
NT

14. Anxiety
• No
indica*on
for
fetal
diagnos*c
examina*on
• Indica*on
for
an
ordinary
scan
• Referral
to
fetal
medicine
center
is
allowed
whenever
a
malforma*on
is
suspected
• Results
in
varia*on
in
clinical
prac*se

15. Fetal
diagnos*c
examina*ons
related
to
numbers
of
women
>38
years
in
the
popula*on
2006
2009
Sør-­‐Trøndelag
211
240
Oslo
157
176
Troms
101
184
Hordaland
120
135
Rogaland
95
114
Aust-­‐Agder
64
62
Huge
differences
in
different
regions

16. KUB
tests
2014
•
3696
biochemical
tests
(PAPP-­‐A
+
lhCG=
1
test)
– Oslo
2019
– Bergen
614
– Stavanger
287
– Trondheim
544
– Tromsø
232

17. Insidens
trisomy
21
• Stable
from
1967
–
1990
• Therea@er
increasing
(older
women)
• Stable
rates
of
born
children
with
trisomy
21
(around
60-­‐70/year)
• Increasing
rate
of
termina*ons

18. Fetal
diagnos*c
examina*ons
• 60
000
deliveries
in
Norway
annually
• Fetal
diagnos*c
examina*ons
offered
to
<10%

19. Age
• Median
38.7
years
based
on
13
441
analyzes
from
2006-­‐1014

20. NT/CRL
02468
NT(mm)
40 50 60 70 80
CRL (mm)
Trondheim
Oslo

21. 050010001500
Tr21backgroundrisk
20 30 40 50
Alder
Trondheim
Oslo

22. Non
invasiv
prenatal
tes*ng
(NIPT)
• Sex
• Trisomies
• Fetal
Rhesus
status
• Gene*c
diseases

23. NIPT
• Sensi*vity
and
specificity
>99%
• NIPT
cannot
replace
ultrasound
• Posi*ve
test
should
be
confirmed
with
invasive
tes*ng

24. NIPT
in
Norway
• Rhesus
nega*ve
women
will
be
offered
NIPT
in
pregnancy
week
25
• Tes*ng
for
aneuploidy
could
be
offered
women
at
median
risk
(1/100
–
1/1000?)
• NIPT
is
regulated
by
the
Norwegian
Biotechnology
Act
and
will
probably
not
be
approved
in
Norway
in
the
near
future
• Women
will
send
tests
abroad

25. Do
the
doctors
comply
with
the
law?

26. Survey
in
2012
• Aim:
To
inves*gate
whether
the
gynaecologists
obey
the
law
• Method:
ques*oner
with
constructed
clinical
cases
• Popula*on:
– Doctors
with
fetal
medicine
centers
– Gynaecologists
in
private
prac*ce
– Lawyers
a
Directory
of
Health

27. Case
1
-­‐
age
• The
woman
is
pregnant
in
week
8
of
gesta/on.
She
will
give
birth
for
the
third
/me,
is
previously
healthy
and
with
no
par/cular
diseases
in
her
family
history.
She
turned
37
two
months
ago,
and
because
of
her
age,
she
wishes
fetal
examina/on
to
exclude
aneuploidy

28. Results
• 50%
of
the
doctors
would
offer
a
diagnos*c
fetal
examina*on
• The
lawyers
said
“not
allowed”

29. Almost
38
Only
35%
of
the
doctors
followed
the
38
year
limit
strictly

30. Case
2
-­‐
colleague
The
woman
is
pregnant
in
week
8
of
gesta/on.
She
is
a
trainee
doctor
in
the
Department
of
Gynaecology,
pregnant
for
the
first
/me
and
has
no
par/cular
risk
factors
associated
with
her
pregnancy

31. Results
• 60%
of
the
doctors
would
offer
a
diagnos*c
fetal
examina*on
• The
lawyers
said
“not
allowed”

32. Conclusions
• The
Norwegian
guidelines
are
unclear
and
difficult
to
follow
in
clinical
prac*ce
• The
majority
of
the
doctors
in
this
survey
did
not
follow
the
Biotechnology
Act
• The
law
will
be
revised,
but….

33. Poli*cal
discussion