The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

BMC Pregnancy and Childbirth

Research Article

Lies ter Beek¹  Erwin Birnie¹  Irene M. van Langen¹  Hermien E. K. de Walle¹  Katelijne Bouman¹  Marian K. Bakker²  Caterina M. Bilardo³ 

[1] University of Groningen, University Medical Center Groningen, Department of Genetics, PO Box 30001, 9700 RB, Groningen, The Netherlands;University of Groningen, University Medical Center Groningen, Department of Genetics, PO Box 30001, 9700 RB, Groningen, The Netherlands;University of Groningen, University Medical Center Groningen, Department of Obstetrics, PO Box 30001, 9700 RB, Groningen, The Netherlands;University of Groningen, University Medical Center Groningen, Department of Obstetrics, PO Box 30001, 9700 RB, Groningen, The Netherlands;

关键词: Prenatal screening;    Trisomy 21;    Trisomy 13;    Trisomy 18;    Maternal age;    Pregnancy outcome;   

DOI  :  10.1186/s12884-016-1203-6

 received in 2015-12-10, accepted in 2016-12-20,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundTo evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13).MethodsWe performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy cases born between 2005 and 2012. Screening tests and invasive procedures, timing of diagnosis and pregnancy outcome were compared between the period before (2005–2006) and after introduction (2007–2012) using X2 tests.ResultsThere was an increase in proportion of women who had a prenatal screening and/or invasive test, from 62% in 2005–2006 to 84% in 2010–2012 (p < 0.01), while the proportion of prenatally diagnosed cases did not change (60% overall). In women < =35 years 47% of the cases were diagnosed prenatally vs 73% in women >35 years (p < 0.01). More T13/T18 cases were diagnosed <24 weeks after introduction (62% vs 84%; p < 0.01). In T13/T18 intra-uterine death decreased (26% vs 15%), while terminations increased: 55% vs 72%.ConclusionThe introduction of prenatal screening had limited impact on the time of detection and outcome of the most common trisomies. The introduction of the 20-week anomaly scan has resulted in more trisomy cases diagnosed <24 weeks and a shift from fetal death to terminations.

【 授权许可】

CC BY   
© The Author(s). 2017