Prænatal diagnostik i Århus og Viborg Amter efter implementering af første trimester-risikovurdering

TY - JOUR

T1 - Prænatal diagnostik i Århus og Viborg Amter efter implementering af første trimester-risikovurdering

AU - Tørring, Niels

AU - Jølving, Line Riis

AU - Petersen, Olav Bennike Bjørn

AU - Holmskov, Anni

AU - Hertz, Jens Michael

AU - Uldbjerg, Niels

PY - 2008

Y1 - 2008

N2 - INTRODUCTION: In 2004 the Danish National Board of Health issued new guidelines for prenatal diagnostics in Denmark. The guidelines include a general offer to all pregnant women in Denmark of first trimester risk assessment of combined non-invasive tests integrating measurement of nuchal translucency and maternal biochemistry for detection of fetal chromosomal abnormalities like trisomy 21, and replacing the screening criteria of > or =35 of age.MATERIALS AND METHODS: The study is based on registered data covering 5,504 pregnancies during the period 1 July 2005 to 31 December 2005 in Aarhus and Viborg Counties.RESULTS: 77% of the pregnant women had a complete combined test and only 2% declined the program. At a cut off at 1:400 at term the detection rate for trisomy 21 was 85% (CI: 62.1-96.8%) with a false positive rate of 3.4%. There was a significant reduction in the number of prenatal karyotypes from 2002 to 2005 in both counties, with a 58% reduction in Viborg County and 33% in Aarhus County. The percentage of abnormal karyotypes over the same period increased from 2.8%% to 11.4% in Viborg County, and from 7.1% to 15.4% in Aarhus County.CONCLUSION: With a significant reduction in invasive procedures and a detection rate of 85% with a false positive rate of 3.4%, the results of the first trimester risk assessment program comply with the requirements defined by the Danish National Board of Health.

AB - INTRODUCTION: In 2004 the Danish National Board of Health issued new guidelines for prenatal diagnostics in Denmark. The guidelines include a general offer to all pregnant women in Denmark of first trimester risk assessment of combined non-invasive tests integrating measurement of nuchal translucency and maternal biochemistry for detection of fetal chromosomal abnormalities like trisomy 21, and replacing the screening criteria of > or =35 of age.MATERIALS AND METHODS: The study is based on registered data covering 5,504 pregnancies during the period 1 July 2005 to 31 December 2005 in Aarhus and Viborg Counties.RESULTS: 77% of the pregnant women had a complete combined test and only 2% declined the program. At a cut off at 1:400 at term the detection rate for trisomy 21 was 85% (CI: 62.1-96.8%) with a false positive rate of 3.4%. There was a significant reduction in the number of prenatal karyotypes from 2002 to 2005 in both counties, with a 58% reduction in Viborg County and 33% in Aarhus County. The percentage of abnormal karyotypes over the same period increased from 2.8%% to 11.4% in Viborg County, and from 7.1% to 15.4% in Aarhus County.CONCLUSION: With a significant reduction in invasive procedures and a detection rate of 85% with a false positive rate of 3.4%, the results of the first trimester risk assessment program comply with the requirements defined by the Danish National Board of Health.

KW - Biomarkers/blood

KW - Chromosome Disorders/diagnosis

KW - Denmark

KW - Down Syndrome/diagnosis

KW - Female

KW - Humans

KW - Karyotyping

KW - Nuchal Translucency Measurement

KW - Pregnancy

KW - Pregnancy Trimester, First

KW - Prenatal Diagnosis/methods

KW - Registries

KW - Retrospective Studies

KW - Risk Assessment

M3 - Tidsskriftartikel

C2 - 18208717

SN - 0041-5782

VL - 170

SP - 50

EP - 54

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 1

ER -