人胚泡异常倍性的准确检测及频率

Catherine Kratka , Padma Samhita Vadapalli B.S., M.B.S. , Robert Mendola Ph.D., T.S. (A.B.B.) , John Garrisi Ph.D. , Jia Xu Ph.D. , Nathan R. Treff Ph.D., H.C.L.D. , Diego Marin Ph.D.
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引用次数: 0

摘要

目的验证着床前胚胎异常倍性检测的有效性,并评估其在可移植囊胚中的发生频率。设计了一种基于微阵列的高通量全基因组单核苷酸多态性植入前基因检测(PGT)平台,使用多个阳性对照,包括已知的单倍体和三倍体核型细胞系,以及初始倍性异常的胚胎再活组织检查。然后在单个PGT实验室中对所有滋养外胚层活检进行测试,以计算异常倍性的频率以及亲本和细胞分裂起源的错误。胚胎植入前基因检测实验室对选择PGT的体外受精患者的胚胎进行评估。对提供唾液样本的患者进一步分析异常倍性的亲本和细胞分裂来源。主要观察指标:可评估阳性对照与原始核型100%一致。在单个PGT实验室队列中,异常倍性的总频率为1.43%。结果所有细胞系与预期核型100%一致。此外,所有可评估的再活检显示100%与原始异常倍体核型一致。异常倍性发生率为1.43%,其中29%为单倍体或异二倍体,2.5%为单倍体异二倍体,68%为三倍体,0.4%为四倍体。12个单倍体胚胎含有母亲的脱氧核糖核酸,3个含有父亲的脱氧核糖核酸。34个三倍体胚胎来自母亲,2个来自父亲。三倍体胚胎减数分裂起源错误35个,有丝分裂起源错误1个。在这35个胚胎中,5个来自减数分裂I, 22个来自减数分裂II, 8个被认为是不确定的。根据特定的异常倍性核型,41.2%的胚胎被错误地归类为整倍体;结论基于微阵列的高通量全基因组单核苷酸多态性PGT平台能够准确检测异常倍性核型,预测可评估胚胎的亲代和细胞分裂错误来源。这种独特的方法提高了检测异常核型的敏感性,这可以减少不良妊娠结局的机会。
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Accurate detection and frequency of abnormal ploidy in the human blastocyst

Objective

To validate the detection of abnormal ploidy in preimplantation embryos and evaluate its frequency in transferrable blastocysts.

Design

A high-throughput genome-wide single nucleotide polymorphism microarray-based preimplantation genetic testing (PGT) platform was validated using multiple positive controls, including cell lines of known haploid and triploid karyotypes and rebiopsies of embryos with initial abnormal ploidy results. This platform was then tested on all trophectoderm biopsies in a single PGT laboratory to calculate the frequency of abnormal ploidy and the parental and cell division origins of error.

Setting

Preimplantation genetic testing laboratory.

Patient(s)

The embryos from in vitro fertilization patients who elected for PGT were evaluated. Any patients who provided saliva samples were further analyzed for the parental and cell division origins of abnormal ploidy.

Intervention(s)

None.

Main Outcome Measure(s)

Evaluable positive controls showed 100% concordance with original karyotypes. The overall frequency of abnormal ploidy within a single PGT laboratory cohort was 1.43%.

Result(s)

All cell lines showed 100% concordance with the expected karyotype. Additionally, all evaluable rebiopsies showed 100% concordance with the original abnormal ploidy karyotype. The frequency of abnormal ploidy was 1.43%, with 29% of those being haploid or uniparental isodiploid, 2.5% uniparental heterodiploid, 68% triploid, and 0.4% tetraploid. Twelve haploid embryos contained maternal deoxyribonucleic acid, and 3 contained paternal deoxyribonucleic acid. Thirty-four triploid embryos were of maternal origin, and 2 were of paternal origin. Thirty-five triploid embryos had a meiotic origin of error, and 1 was of mitotic error. Of those 35 embryos, 5 originated from meiosis I, 22 originated from meiosis II, and 8 were deemed inconclusive. On the basis of specific abnormal ploidy karyotypes, 41.2% of embryos would be falsely classified as euploid, and 22.7% would be false-positive mosaics with the use of the conventional next-generation sequencing–based PGT methods.

Conclusion(s)

This study demonstrates the validity of a high-throughput genome-wide single nucleotide polymorphism microarray-based PGT platform to accurately detect abnormal ploidy karyotypes and predict the parental and cell division origins of error of evaluable embryos. This unique method improves the sensitivity of detection for abnormal karyotypes, which can reduce the chances of adverse pregnancy outcomes.

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来源期刊
F&S science
F&S science Endocrinology, Diabetes and Metabolism, Obstetrics, Gynecology and Women's Health, Urology
CiteScore
2.00
自引率
0.00%
发文量
0
审稿时长
51 days
期刊最新文献
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