Non-invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-based Approach

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2014 May 9

PMID 24805989

Citations 11

Authors

Megan P Hall

Matthew Hill

Bernhard Zimmermann

Styrmir Sigurjonsson

Margaret Westemeyer

Jennifer Saucier

Zachary Demko

Matthew Rabinowitz

Affiliations

Soon will be listed here.

Abstract

Purpose: To determine how a single nucleotide polymorphism (SNP)- and informatics-based non-invasive prenatal aneuploidy test performs in detecting trisomy 13.

Methods: Seventeen trisomy 13 and 51 age-matched euploid samples, randomly selected from a larger cohort, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase chain reaction assay that interrogated 19,488 SNPs covering chromosomes 13, 18, 21, X, and Y, and sequenced. Analysis and copy number identification involved a Bayesian-based maximum likelihood statistical method that generated chromosome- and sample-specific calculated accuracies.

Results: Of the samples that passed a stringent DNA quality threshold (94.1%), the algorithm correctly identified 15/15 trisomy 13 and 49/49 euploid samples, for 320/320 correct copy number calls.

Conclusions: This informatics- and SNP-based method accurately detects trisomy 13-affected fetuses non-invasively and with high calculated accuracy.

Citing Articles

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Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.

Zhang J, Wu Y, Chen S, Luo Q, Xi H, Li J Nat Med. 2024; 30(2):470-479.

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Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening.

Xu C, Li J, Chen S, Cai X, Jing R, Qin X Cell Discov. 2022; 8(1):109.

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A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X.

Demko Z, Prigmore B, Benn P J Clin Med. 2022; 11(16).

PMID: 36012999 PMC: 9410356. DOI: 10.3390/jcm11164760.

Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.

Genovese G, Mello C, Loh P, Handsaker R, Kashin S, Whelan C Sci Rep. 2022; 12(1):12025.

PMID: 35835769 PMC: 9283487. DOI: 10.1038/s41598-022-14049-5.

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