In silico size selection is effective in reducing false positive NIPS cases of monosomy X that are due to maternal mosaic monosomy X. (29th December 2017)

• Record Type: Journal Article
• Authors: Shubina, Jekaterina; Trofimov, Dmitry Yu; Barkov, Ilya Yu; Stupko, Olga K.; Goltsov, Andrey Yu; Mukosey, Irina S.; Tetruashvili, Nana K.; Kim, Lyudmila V.; Bakharev, Vladimir A.; Karetnikova, Natalia A.; Kochetkova, Taisya O.; Krasheninnikova, Regina V.; Bystritskiy, Andrey A.; Sukhikh, Gennady T.
• Is Part Of: Prenatal diagnosis. Volume 37:Number 13(2017)
• Page Start: 1305
• Page End: 1310
• Publication Date: 2017-12-29
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5178
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objectives: The aim of this study was to establish maternal contribution to false positive noninvasive prenatal DNA screening (NIPS) results and develop the method to distinguish maternal and fetal origin of high‐risk monosomy X NIPS calls including mosaic maternal cases. Method: A total of 906 women carrying singleton pregnancies have been recruited. Maternal plasma DNA semiconductor massive parallel sequencing was performed to detect common aneuploidies. For the case of high monosomy X risk call, analysis method to distinguish fetal and maternal monosomy X has been additionally applied. Results: According to NIPS results, 18 patients had a high risk of fetal monosomy X. In 11 (61%) cases, fetal aneuploidy was confirmed by karyotyping. Other 7 cases were false positives. In 3 out of 7 cases, additional analysis based on in silico size selection was allowed to assume maternal monosomy X. In these cases, fluorescence in situ hybridization analysis confirmed mosaic monosomy X in maternal blood cells. Conclusion: The prevalence of mosaic monosomy X karyotype is 0.3% (3/906)—10 times higher than published before. Additional in silico size‐selection and data analysis increases PPV for monosomy X from 61% to 73% for studied population.