Preimplantation genetic diagnosis of chromosome translocations by analysis of polymorphic short tandem repeats
Singapore medical journal
;
: 648-654, 2012.
Article
in English
| WPRIM
| ID: wpr-249646
ABSTRACT
<p><b>INTRODUCTION</b>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.</p><p><b>METHODS</b>Selected informative STRs located on translocated arms of relevant chromosomes were used to discriminate between normal and unbalanced chromosome states in each embryo.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>STR analysis is a simple and suitable alternative to FISH for detecting unbalanced chromosomal states in preimplantation embryos.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
Translocation, Genetic
/
Pregnancy Outcome
/
Fertilization in Vitro
/
Polymerase Chain Reaction
/
Microsatellite Repeats
/
Preimplantation Diagnosis
/
Genetics
/
Methods
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
English
Journal:
Singapore medical journal
Year:
2012
Type:
Article
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