Accuracy and reproducibility of fetal-fraction measurement using relative quantitation at polymorphic loci with microarray

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
M SchmidEric Wang

Abstract

Various methods of fetal-fraction measurement have been employed in conjunction with different approaches to cell-free DNA testing for fetal aneuploidy. In this study, we determined the accuracy and reproducibility of fetal-fraction measurement using polymorphic assays that are incorporated into the test design as part of the Harmony® prenatal test and evaluated whether the single nucleotide polymorphisms selected for and used in these assays can be applied broadly to all patient populations. Clinical maternal plasma samples were assayed using a custom microarray with Digital ANalysis of Selected Regions (DANSR) assays designed to cover non-polymorphic targets on chromosomes of interest for aneuploidy assessment (13, 18, 21, X and Y) and polymorphic targets for fetal-fraction assessment. In a consecutive series of 47 512 maternal plasma samples, fetal-fraction measurements based on polymorphic assays were compared with those from Y-sequence quantitation. Reproducibility was examined between first- and second-tube measurements for the same patient sample in 734 cases. The fraction of informative loci was calculated for 13 988 samples. There was a strong correlation between fetal fractions determined using the polymorphic assays ...Continue Reading

References

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Citations

Mar 29, 2019·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Karen WhiteMaximilian Schmid
Dec 11, 2019·Prenatal Diagnosis·Lisa Hui, Diana W Bianchi
Jun 20, 2020·The Journal of Obstetrics and Gynaecology Research·Osamu Samura
Feb 15, 2020·Molecular Diagnosis & Therapy·Renee StokowskiMaximilian Schmid
Feb 2, 2021·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Ioakeim SapantzoglouArgyro Syngelaki
Mar 19, 2021·Clinical Chemistry·Fredrik Persson, Lawrence Prensky

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Methods Mentioned

BETA
genotyping

Software Mentioned

Digital ANalysis of

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