Down syndrome risk calculation for a twin fetus taking account of the nuchal translucency in the co-twin

Howard Cuckle, Ron Maymon

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: The objective of this study was to describe and illustrate a method for calculating fetus-specific Down syndrome risk in twins, allowing for between-fetus nuchal translucency (NT) correlation. Methods: The between-fetus correlation coefficient of log NT, in multiples of the median, was estimated from a series of 325 unaffected twins after adjustment for sonographer bias. A bivariate log Gaussian model was used to calculate likelihood ratios for discordant and concordant Down syndrome. Applying these to the prior maternal age-specific risk yielded risks in monozygous and dizygous twins. The weighted average risk was then computed with weights relating to chorionicity, gender, assisted reproduction and ethnicity. The method was illustrated using examples. Results: The correlation coefficient in unaffected pregnancies was 0.45 (P < 0.0001) and estimated to be 0.12 and 0.04 in discordant and concordant twins, respectively. The examples showed very large differences in the risks obtained when the extent of correlation in NT between fetuses is taken into account and when the measurements are treated as independent. Conclusion: Fetus-specific Down syndrome risks in twins should be calculated using its own NT value as well as that of the co-twin.

Original languageEnglish
Pages (from-to)827-833
Number of pages7
JournalPrenatal Diagnosis
Volume30
Issue number9
DOIs
StatePublished - Sep 2010

Keywords

  • Correlation
  • Down syndrome
  • Nuchal translucency
  • Risk
  • Zygocity

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