The document outlines the implementation and evaluation of Non-Invasive Prenatal Testing (NIPT) in Finland, specifically within private clinics and Helsinki University Hospital. It discusses the criteria for NIPT eligibility, types of counseling provided, and statistical data regarding uptake and results from 2014 to 2015. Additionally, it highlights potential areas for improvement in screening policies and resource allocation.

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