Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

B Boyle, J Morris, Roy McConkey, E Garne, Maria Loane, MC Addor, M Gatt, M Haeusler, A Latos-Bielenska, N Lelong, R McDonnell, C Mullaney, M O'Mahony, Helen Dolk

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Objective
To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.

Design
Population‐based prevalence study based on EUROCAT congenital anomaly registries.

Setting
Eight European countries.

Population
14.8 million births 1990–2009; 2.89% multiple births.

Methods
DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases.

Main outcome measures
Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome.

Statistical analysis
Poisson and logistic regression stratified for maternal age, country and time.

Results
Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53–0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co‐twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25–0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23–1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50–0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27–0.59]).

Conclusions
The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.
LanguageEnglish
Pages809-820
JournalBJOG: An International Journal of Obstetrics and Gynaecology
Volume121
Issue number7
Early online date4 Feb 2014
DOIs
Publication statusPublished - Jun 2014

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Multiple Pregnancy
Down Syndrome
Prenatal Diagnosis
Pregnancy
Fetus
Multiple Birth Offspring
Maternal Age
Pregnancy Outcome
Parturition
Fetal Death
Genetic Counseling
Genetic Testing
Registries
Cross-Sectional Studies
Logistic Models
Regression Analysis
Mothers

Cite this

Boyle, B ; Morris, J ; McConkey, Roy ; Garne, E ; Loane, Maria ; Addor, MC ; Gatt, M ; Haeusler, M ; Latos-Bielenska, A ; Lelong, N ; McDonnell, R ; Mullaney, C ; O'Mahony, M ; Dolk, Helen. / Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening. In: BJOG: An International Journal of Obstetrics and Gynaecology. 2014 ; Vol. 121, No. 7. pp. 809-820.
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title = "Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening",
abstract = "ObjectiveTo determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.DesignPopulation‐based prevalence study based on EUROCAT congenital anomaly registries.SettingEight European countries.Population14.8 million births 1990–2009; 2.89{\%} multiple births.MethodsDS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases.Main outcome measuresRelative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome.Statistical analysisPoisson and logistic regression stratified for maternal age, country and time.ResultsOverall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95{\%} CI 0.53–0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7{\%} of twin pairs affected by DS, both co‐twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95{\%} CI 0.25–0.44) and for dizygotic versus singleton pregnancies 1.34 (95{\%} CI 1.23–1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95{\%} CI 0.50–0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95{\%} CI 0.27–0.59]).ConclusionsThe risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.",
author = "B Boyle and J Morris and Roy McConkey and E Garne and Maria Loane and MC Addor and M Gatt and M Haeusler and A Latos-Bielenska and N Lelong and R McDonnell and C Mullaney and M O'Mahony and Helen Dolk",
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Boyle, B, Morris, J, McConkey, R, Garne, E, Loane, M, Addor, MC, Gatt, M, Haeusler, M, Latos-Bielenska, A, Lelong, N, McDonnell, R, Mullaney, C, O'Mahony, M & Dolk, H 2014, 'Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening', BJOG: An International Journal of Obstetrics and Gynaecology, vol. 121, no. 7, pp. 809-820. https://doi.org/10.1111/1471-0528.12574

Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening. / Boyle, B; Morris, J; McConkey, Roy; Garne, E; Loane, Maria; Addor, MC; Gatt, M; Haeusler, M; Latos-Bielenska, A; Lelong, N; McDonnell, R; Mullaney, C; O'Mahony, M; Dolk, Helen.

In: BJOG: An International Journal of Obstetrics and Gynaecology, Vol. 121, No. 7, 06.2014, p. 809-820.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

AU - Boyle, B

AU - Morris, J

AU - McConkey, Roy

AU - Garne, E

AU - Loane, Maria

AU - Addor, MC

AU - Gatt, M

AU - Haeusler, M

AU - Latos-Bielenska, A

AU - Lelong, N

AU - McDonnell, R

AU - Mullaney, C

AU - O'Mahony, M

AU - Dolk, Helen

PY - 2014/6

Y1 - 2014/6

N2 - ObjectiveTo determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.DesignPopulation‐based prevalence study based on EUROCAT congenital anomaly registries.SettingEight European countries.Population14.8 million births 1990–2009; 2.89% multiple births.MethodsDS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases.Main outcome measuresRelative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome.Statistical analysisPoisson and logistic regression stratified for maternal age, country and time.ResultsOverall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53–0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co‐twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25–0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23–1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50–0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27–0.59]).ConclusionsThe risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.

AB - ObjectiveTo determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.DesignPopulation‐based prevalence study based on EUROCAT congenital anomaly registries.SettingEight European countries.Population14.8 million births 1990–2009; 2.89% multiple births.MethodsDS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases.Main outcome measuresRelative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome.Statistical analysisPoisson and logistic regression stratified for maternal age, country and time.ResultsOverall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53–0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co‐twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25–0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23–1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50–0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27–0.59]).ConclusionsThe risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.

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U2 - 10.1111/1471-0528.12574

DO - 10.1111/1471-0528.12574

M3 - Article

VL - 121

SP - 809

EP - 820

JO - BJOG: An International Journal of Obstetrics and Gynaecology

T2 - BJOG: An International Journal of Obstetrics and Gynaecology

JF - BJOG: An International Journal of Obstetrics and Gynaecology

SN - 1470-0328

IS - 7

ER -