Preimplantation testing:Transition from genetic to genomic diagnosis

• 作者: Eduardo C Lau
• 来源期刊: 世界医学遗传学杂志
• 学科: 医学
• 关键词: PREIMPLANTATION GENETIC DIAGNOSIS Singlecell whole genome amplification PREIMPLANTATION GENETIC HAPLOTYPING Array-comparative GENOMIC hybridization Single NUCLEOTIDE polymorphism microarrays
• 年，卷（期）: sjyxycxzz,（2）
• 页码范围: 9-14
• 页数: 6页
• 分类号: R

摘要

to determine the genetic status of embryos formed by in vitro fertilization(IVF)prior to initiating a pregnancy.Traditional genetic methods for preimplantation genetic diagnosis(PGD)examine distinct parts of an individual genome,require the development of a custom assay for every patient family,and are time consuming and inefficient.In the last decade technologies for wholegenome amplification(WGA)from single cells have led to innovative strategies for preimplantation testing.Applications of WGA technology can lead to a universal approach that uses single-nucleotide polymorphisms(SNPs)and mutations across the entire genome for the analysis.Single-cell WGA by multiple displacement amplification has enabled a linkage approach to PGD known as“preimplantation genetic haplotyping”,as well as microarray-based techniques for preimplantation diagnosis.The use of microarrays in preimplantation diagnosis has provided genome-wide testing for gains or losses of single chromosomes(aneuploidies)or chromosomal segments.Properly designed randomized controlled trials are,however,needed to determine whether these new technologies improve IVF outcomes by increasing implantation rates and decreasing miscarriage rates.In genotype analysis of single cells,allele dropout occurs frequently at heterozygous loci.Preimplantation testing of multiple cells biopsied from blastocysts,however,can reduce allele dropout rates and increase the accuracy of genotyping,but it allows less time for PGD.Future development of fast SNP microarrays will enable a universal preimplantation testing for aneuploidies,single-gene disorders and unbalanced translocations within the time frame of an IVF cycle.