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高分辨率的PGT-A可随机识别具有小病原性拷贝数变异的患者

Deirdre Leahy¹, Diego Marin², Jia Xu²

¹Genomic Prediction Inc., 671 US Highway One, North Brunswick, NJ, 08902, USA. deirdre@genomicprediction.com.

Journal of assisted reproduction and genetics

|November 13, 2023

概括

使用SNP数组的高分辨率PGT-A可以在胚胎中检测出临床显著的副本数变异 (CNV). 这种方法可以识别以前未知的父母CNV,提高了植入前遗传测试的有效性.

科学领域:

生殖遗传学生殖遗传学
基因组医学是一种基因组医学.
胚胎学胚胎学

背景情况:

在体外受精 (IVF) 过程中,对肺积分病 (PGT-A) 的植入前遗传检测至关重要.
在胚胎中检测副本数变异 (CNV) 可以预防严重的遗传疾病.
需要高分辨率的方法来识别微妙的遗传失衡.

研究的目的:

评估一种高通量,高分辨率的PGT-A方法,用于检测临床显著的CNVs.
评估基于SNP数组的PGT-A在识别偶然的父母发现方面的实用性.

主要方法:

使用高分辨率SNP微阵列平台 (>820,000个探针) 对6080个PGT-A病例进行前性分析.
识别需要进行家长测试的细分失衡病例 (微阵列或刻型).

主要成果:

41例 (0.7%) 发现了需要父母测试的偶然发现.
父母研究证实了所有测试病例的PGT-A发现.
确定了两例致病性CNV:与自闭症相关的重复 (15q11.2:q11.2) 和导致3p删除综合征的删除 (3p26.1:p26.3).

结论:

高分辨率SNP阵列PGT-A有效地检测出临床意义上的父母CNV (删除,重复,转移).
这种具有成本效益的方法通过识别未知的致病性CNV来增强PGT.
它可以防止通过试管婴儿受孕的儿童遗传严重的遗传疾病.

关键词:

复制号码的变种是复制号码的变种.在试管婴儿受精体外受精.在植入前进行遗传检测.互惠的转移转移是互惠的转移.

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相关概念视频

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...