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Published on: August 17, 2022
Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification
Judy F C Chow1, William S B Yeung, Estella Y L Lau
1Department of Obstetrics and Gynaecology, University of Hong Kong, Pokfulam, Hong Kong.
Objective:
To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification.
Design:
Case report.
Setting:
University assisted reproduction unit.
Patient(S):
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.
Intervention(S):
Preimplantation genetic diagnosis with whole genome amplification for identification of genetically normal embryos.
Main Outcome Measure(S):
Live birth.
Result(S):
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.
Conclusion(S):
Whole genome amplification by multiple displacement amplification can be used for PGD of Huntington disease.
