Preimplantation genetic diagnosis

被引：6

作者：

Egozcue, J ^{[1
]}

Santaló, J ^{[1
]}

Giménez, C ^{[1
]}

Pérez, N ^{[1
]}

Vidal, F ^{[1
]}

机构：

[1] Univ Autonoma Barcelona, Unitat Biol Cellular, Bellaterra 08193, Spain

来源：

MOLECULAR AND CELLULAR ENDOCRINOLOGY | 2000年 / 166卷 / 01期

关键词：

preimplantation; preconception; PCR; FISH;

D O I：

10.1016/S0303-7207(00)00293-8

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Preimplantation genetic diagnosis (PGD) includes a variety of techniques that have been developed to detect the transmission to the offspring of genetic diseases or of chromosome abnormalities by couples at risk before a pregnancy is established, to avoid these couples the risk of recurrent abortions and/or of repeated terminations of pregnancy. Candidate couples are carriers of gene mutations or of structural chromosome rearrangements, or with recurrent spontaneous abortions of unknown origin. Diagnostic procedures include different modalities of gene amplification using the polymerase chain reaction (PCR) or of fluorescent in situ hybridization (FISH). Embryo biopsies are carried out at the 6-8 cell stage. Healthy embryos are transferred on day 4 or at the blastocyst stage. By now, several hundred healthy children have been born using PGD, and only one diagnostic error has been reported. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.

引用

页码：21 / 25

页数：5

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