Noninvasive Prenatal Screening for Fetal Sex Chromosome Aneuploidies at Two Next-Generation Sequencing Platforms

Non-invasive prenatal testing (NIPT) has been widely used for detecting fetal trisomy 13, 18 and 21 and sex chromosome aneuploidies (SCAs), but few studies have been published comparing the performance of NIPT for fetal SCAs between different next-generation sequencing platforms.

Retrospective analysis of prospectively collected NIPT data at two next-generation platforms (Proton and Illumina) from Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University was performed, and the Patients identified as NIPT positive of SCAs were offered prenatal fetal chromosomal karyotyping.

A total of 40750 pregnant women agreed to undergo NIPT at two platforms, 38 patients (0.32%) revealed fetal SCAs positive at Proton sequencing platform, and 163 patients (0.56%) showed fetal SCAs positive at Illumina sequencing platform, a total of 201 patients (0.49%) demonstrated positive NIPT results for fetal SCAs. The results of fetal karyotyping revealed 16/28 (57.1%) and 38/103(36.9%) true positive patients at Proton and Illumina sequencing platforms. The over specificity and positive predictive value are 99.90% and 57.1% for Proton and 99.78% and 36.9% for Illumina. SCAs were present in one of every 614 individuals considered in this study.

There are no significant differences in detecting SCAs at two next generation sequencing platforms, and NIPT might be an effective strategy to prevent SCAs.