Sensitivity and specificity of MGC-NIPS for trisomy 13, trisomy 18, trisomy 21, and sex chromosome aneuploidy screening in 219 Thai pregnant women
DOI:
https://doi.org/10.14456/gag.2020.1Keywords:
prenatal screening; non-invasive prenatal screening; sensitivity; specificity; semiconductor sequencerAbstract
Non-invasive prenatal screening (NIPS) has rapidly gained its acceptance as another prenatal screening method in Thailand. It offers higher sensitivity and specificity comparing to the commonly used biochemical tests. We have developed a pipeline called “MGC-NIPS”, based-on chromosome read ratio algorithm, to detect all autosomes and sex chromosome aneuploidy (SCA). Validation on 219 archival data, sequenced by Ion Proton platform, was performed. Over 99% of sensitivity and specificity were achieved for all common autosome and sex chromosome aneuploidy. Two false positive SCA and one false negative Trisomy 18 had occurred. We concluded that MGC-NIPS, using simple chromosome read ratio algorithm on semiconductor sequencer data, is highly accurate. Further prospective study is warranted to gain more confirmative evidence before offering it as an alternative pipeline for NIPS service in Thailand.
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