Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification.
OBJECTIVE
To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification.


METHODS
Case report.


METHODS
University assisted reproduction unit.


METHODS
A couple with family history of Huntington disease: The husband was carrying the expanded allele of the IT15 gene, and the wife had the normal allele.


METHODS
Preimplantation genetic diagnosis with whole genome amplification for identification of genetically normal embryos.


METHODS
Live birth.


RESULTS
In an IVF cycle, 15 oocytes were retrieved, of which 13 were mature and 11 were fertilized. On day 3, embryo biopsy and PGD were performed on ten good-quality embryos. Multiple displacement amplification was conducted, followed by polymerase chain reaction with fluorescence primers. Three pairs of primers were used for the amplification of the IT15 gene at the: 1) trinucleotide expansion site; 2) trinucleotide expansion site plus the polymorphic site situated on its 3'-end; and 3) polymorphic marker located downstream of the trinucleotide repeats. Two normal blastocysts were replaced on day 5 and another two good-quality blastocysts were cryopreserved. The woman gave birth to a normal baby girl whose normal genetic status was confirmed by prenatal diagnosis.


CONCLUSIONS
Whole genome amplification by multiple displacement amplification can be used for PGD of Huntington disease.
Chow
Judy F C
JF
Department of Obstetrics and Gynaecology, University of Hong Kong, Pokfulam, Hong Kong.
Yeung
William S B
WS
Lau
Estella Y L
EY
Lam
Stephen T S
ST
Tong
Tony
T
Ng
Ernest H Y
EH
Ho
Pak-Chung
PC
D000328:Adult; D005260:Female; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics*; D050498:Live Birth; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D019836:Preimplantation Diagnosis / Q000379:methods*