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.
Original language | English |
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Pages (from-to) | 809-820 |
Journal | BJOG: An International Journal of Obstetrics and Gynaecology |
Volume | 121 |
Issue number | 7 |
Early online date | 04 Feb 2014 |
DOIs | |
Publication status | Published - 20 May 2014 |
Keywords
- Adult
- Down Syndrome
- Europe
- Female
- Humans
- Maternal Age
- Middle Aged
- Pregnancy
- Pregnancy Outcome
- Pregnancy, Multiple
- Prenatal Diagnosis
- Prevalence
- Risk
- Risk Assessment
- Twins, Dizygotic
- Twins, Monozygotic
- Young Adult