Molecular strategies for pre-implantation genetic diagnosis of single gene and chromosomal disorders

被引：8
作者：
Jiang, Boran [1 ]
Tan, Arnold S. C. [1 ,2 ]
Chong, Samuel S. [1 ,2 ]
机构：
[1] Natl Univ Singapore Hosp, Univ Childrens Med Inst, Preimplantat Genet Diag Ctr, Singapore, Singapore
[2] Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Pediat, Singapore 117595, Singapore
来源：
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY | 2012年 / 26卷 / 05期
关键词：
pre-implantation genetic diagnosis; pre-implantation genetic screening; array comparative genomic hybridization; single nucleotide polymorphism array; whole-genome amplification; polymerase chain reaction; fluorescence in-situ hybridization; WHOLE GENOME AMPLIFICATION; SITU HYBRIDIZATION ANALYSIS; ARRAY-CGH; TROPHECTODERM BIOPSY; HUMAN BLASTOCYSTS; EMBRYO BIOPSY; BLASTOMERES; ANEUPLOIDY; CELLS; PGD;
D O I：
10.1016/j.bpobgyn.2012.06.007
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
Pre-implantation genetic diagnosis is used to analyse preimplantation stage embryos or oocytes for genetic defects, generally for severe Mendelian disorders and chromosome abnormalities. New but controversial indications for pre-implantation genetic diagnosis include identifying human leukocyte antigen compatible embryos suitable as donor, sex selection and adult-onset disorders, particularly cancer. Pre-implantation genetic screening is a variant of pre-implantation genetic diagnosis to improve outcomes of in-vitro fertilisation. Array comparative genomic hybridisation is replacing fluorescence in-situ hybridisation for aneuploidy screening. Besides technical advancement of array platform, the success of pre-implantation genetic screening is strongly related to the embryonic biological nature of chromosomal mosaicism. Having been applied for more than 20 years, pre-implantation genetic diagnosis is recognised as an important alternative to prenatal diagnosis. Diagnosis from a single cell, however, remains a technically challenging procedure, and the risk of misdiagnosis cannot be eliminated. (C) 2012 Elsevier Ltd. All rights reserved.
引用
收藏
页码：551 / 559
页数：9
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