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

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

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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

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