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

1. NIPT in Finland
Private Clinics
Helsinki University
Hospital
(preparations for
implementation)
Implementation and
immediate evaluation
Other University
Hospitals ?
2013 10/2014 – 12/2014 1.1.2015 autumn 2015
Vedran Stefanovic
Fetomaternal Medical Center
Helsinki University Hospital
Finland
Vedran.stefanovic@hus.fi

2. 1.1.2015 
1.FTS risk ≥ 1:250
2.Nuchal translucency 3-3.9 mm
3.Mid-trimester screen positive
4. > 40 yrs + FTS unattended
5. Previous child/fetus with aneuploidy (21.13 and 18 trisomy, sex-chromosomes aneuploidy)
CVS (ad H14+6) OR
Amnio (H15+0 )
21,18 ja 13-trisomy and sex-chromosomes PCR
Abnormal result
Counselling
1.Nuchal translucency ≥ 4 mm
2.Structural anomaly
CVS (ad H14+6)
OR AMNIO(H15+0)-
Karyotype ( + microarray)
Counselling:
(patients´s choice: invasive
or NIPT)
Counselling
NIPT
Normal result Abnormal result or
inconclusive
No follow-up
Counselling
Amnio
21,18 ja 13-trisomy and sex-
chromosomes PCR
Counselling
*
* NIPT= Non-Invasive Prenatal Testing Vedran Stefanovic® 12/2014

3. 57 56
168
94
51
23
163
127
0
20
40
60
80
100
120
140
160
180
1 2 3 4
Sarja1
Sarja2
LVP
JAN FEB
2014 - 2015 CVS
JAN - FEB
2014 2015
3rd level US
JAN - FEB
2014 2015 Gen. counseling
(midwife)
JAN - FEB
2014 2015
FMC Helsinki data Jan-Feb 2014 vs 2015
LVP-Amniocentesis
CVS-Chorionic villus sampling
Jan-Feb 50/70 (71.4%) suitable for NIPT have
chosen NIPT
Turnover time 9 days
All had ≥ 4% fetal fraction
1.3.-31.3.3 29/36 = 80.5%
TOTAL UPTAKE 79/106 = 74.5%, so far all NEGATIVE

5. -How to improve DR?
-Spreading the repertoire?
single gene disorders?
-Financial resources
-The unified screening policy on
the national level