Experience Using a Rapid Assay for Aneuploidy and Microdeletion/Microduplication Detection in over 2,900 Prenatal Specimens

被引：9

作者：

Rosenfeld, Jill A. ^{[1
]}

Morton, S. Anne ^{[1
]}

Hummel, Cathryn ^{[1
]}

Sulpizio, Scott G. ^{[1
]}

McDaniel, Lisa D. ^{[1
]}

Schultz, Roger A. ^{[1
]}

Torchia, Beth S. ^{[1
]}

Ravnan, J. Britt ^{[1
]}

Ellison, Jay W. ^{[1
]}

Fisher, Allan J. ^{[2
]}

机构：

[1] PerkinElmer Inc, Signature Genonn Labs, Spokane, WA USA

[2] Elliot Maternal Fetal Med, Manchester, NH USA

来源：

FETAL DIAGNOSIS AND THERAPY | 2014年 / 36卷 / 03期

关键词：

Rapid aneuploidy testing; Chromosomal abnormalities; Microdeletion; Microduplication; Low-risk pregnancy; BACs-on-Beads assay; COMPARATIVE GENOMIC HYBRIDIZATION; CHROMOSOMAL MICROARRAY; MICRODUPLICATION; 22Q11.2; MICRODELETION SYNDROMES; 1ST-LINE TEST; DIAGNOSIS; ANXIETY; FISH; MLPA; BACS-ON-BEADS(TM);

D O I：

10.1159/000360081

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Background: While microarray testing can identify chromosomal abnormalities missed by karyotyping, its prenatal use is often avoided in low-risk pregnancies due to the possible identification of variants of uncertain significance (VOUS). Methods: We tested 2,970 prenatal samples of all referral indications using a rapid BACs-on-Beads-based assay with probes for sex chromosomes, common autosomal aneuploidies, and 20 microdeletion/microduplication syndromes, designed as an alternative to microarray in low-risk pregnancies and an alternative to rapid aneuploidy testing in pregnancies also undergoing microarray analysis. Results: Interpretable results were obtained in 2,940 cases (99.0%), with 89% receiving results in 1 day. Aneuploidies were detected in 7.3% and partial chromosome abnormalities in 0.45% (n = 13), including 5 referred for maternal age, abnormal maternal serum screen, or isolated ultrasound markers. The added detection above karyotype was 1 in 745 in lower-risk cases with normal ultrasounds or isolated ultrasound markers/increased nuchal measurements and 1 in 165 for fetuses with structural/growth abnormalities. Neither false negatives nor false positives were found within test limitations. Female polyploidy could not be detected, while polyploidies with Y chromosomes were suspected and confirmed through additional analysis. Conclusion: When combined with karyotyping, this assay provides increased interrogation of specific chromosomal regions, while limiting VOUS identification. (C) 2014 S. Karger AG, Basel

引用

页码：231 / 241

页数：11

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