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

Katelijne Bouman, Marian K Bakker, Erwin Birnie, Lies Ter Beek, Caterina M Bilardo, Irene M van Langen, Hermien E K de Walle

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

BACKGROUND: To 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).

METHODS: We 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 X (2) tests.

RESULTS: There 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%.

CONCLUSION: The 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.

Original languageEnglish
Number of pages8
JournalBMC pregnancy and childbirth
Volume17
Issue number4
DOIs
Publication statusPublished - 5 Jan 2017
Externally publishedYes

Keywords

  • prenatal care
  • trisomies
  • research
  • northern netherlands

Cite this

Bouman, Katelijne ; Bakker, Marian K ; Birnie, Erwin ; Ter Beek, Lies ; Bilardo, Caterina M ; van Langen, Irene M ; de Walle, Hermien E K. / 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. In: BMC pregnancy and childbirth. 2017 ; Vol. 17, No. 4.
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abstract = "BACKGROUND: To 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).METHODS: We 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 X (2) tests.RESULTS: There 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{\%}.CONCLUSION: The 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.",
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author = "Katelijne Bouman and Bakker, {Marian K} and Erwin Birnie and {Ter Beek}, Lies and Bilardo, {Caterina M} and {van Langen}, {Irene M} and {de Walle}, {Hermien E K}",
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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. / Bouman, Katelijne; Bakker, Marian K; Birnie, Erwin; Ter Beek, Lies; Bilardo, Caterina M; van Langen, Irene M; de Walle, Hermien E K.

In: BMC pregnancy and childbirth, Vol. 17, No. 4, 05.01.2017.

Research output: Contribution to journalArticleAcademicpeer-review

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AU - Bouman, Katelijne

AU - Bakker, Marian K

AU - Birnie, Erwin

AU - Ter Beek, Lies

AU - Bilardo, Caterina M

AU - van Langen, Irene M

AU - de Walle, Hermien E K

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N2 - BACKGROUND: To 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).METHODS: We 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 X (2) tests.RESULTS: There 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%.CONCLUSION: The 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.

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