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Singapore Med J. 2012 Oct;53(10):648-54.

Preimplantation genetic diagnosis of chromosome translocations by analysis of polymorphic short tandem repeats.

Author information

  • 1KKIVF, Department of Reproductive Medicine, KK Women's and Children's Hospital, Singapore.

Abstract

INTRODUCTION:

We aimed to develop and implement a short tandem repeat (STR) polymerase chain reaction alternative to fluorescence in situ hybridisation (FISH) for the preimplantation genetic diagnosis (PGD) of chromosomal translocations.

METHODS:

Selected informative STRs located on translocated arms of relevant chromosomes were used to discriminate between normal and unbalanced chromosome states in each embryo.

RESULTS:

PGD cycles were performed on five couples where one spouse carried a balanced translocation. 27 embryos were analysed, of which 12 were normal/balanced, 12 were abnormal/unbalanced and three were indeterminate. Four PGD cycles proceeded to embryo transfer, of which two led to pregnancy. The first pregnancy showed a normal male karyotype, and a healthy baby was delivered at term. A second pregnancy unexpectedly miscarried in the second trimester from unknown causes.

CONCLUSION:

STR analysis is a simple and suitable alternative to FISH for detecting unbalanced chromosomal states in preimplantation embryos.

PMID:
23112015
[PubMed - indexed for MEDLINE]
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