Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

<jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Objective</jats:title><jats:p>The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell‐free DNA from maternal plasma in twin pregnancies.</jats:p></jats:sec><jats:sec><jats:title>Method</jats:title><jats:p>A double‐blind study was performed over 12 months. A total of 189 pregnant women carrying twins were recruited from seven hospitals. Maternal plasma DNA sequencing was performed to detect trisomies 21 and 18. The fetal karyotype was used as gold standard to estimate the sensitivity and specificity of sequencing‐based noninvasive prenatal test.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>There were nine cases of trisomy 21 and two cases of trisomy 18 confirmed by karyotyping. Plasma DNA sequencing correctly identified nine cases of trisomy 21 and one case of trisomy 18. The discordant case of trisomy 18 was an unusual case of monozygotic twin with discordant fetal karyotype (one normal and the other trisomy 18). The sensitivity and specificity of maternal plasma DNA sequencing for fetal trisomy 21 were both 100% and for fetal trisomy 18 were 50% and 100%, respectively.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our study further supported that sequencing‐based noninvasive prenatal testing of trisomy 21 in twin pregnancies could be achieved with a high accuracy, which could effectively avoid almost 95% of invasive prenatal diagnosis procedures. © 2013 John Wiley & Sons, Ltd.</jats:p></jats:sec>