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Published on: August 17, 2022
Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification
Belén Lledó1, Jorge Ten, Francisco M Galán
1Bernabeu Institute of Fertility and Gynecology, Alicante, Spain. belen.lledo@ua.es
Objective:
To evaluate the use of multiple displacement amplification (MDA) for whole-genome amplification in the preimplantation genetic diagnosis (PGD) of Marfan syndrome.
Design:
Multiple displacement amplification was used to amplify the whole-genome directly from a single cell. The MDA product was used for polymerase chain reaction (PCR) analysis of five different loci. At this point MDA was used to develop a PGD-Marfan syndrome program.
Setting:
Fertility and gynecology private center in Alicante, Spain.
Patient(S):
A couple in which the husband is affected by Marfan syndrome and carries a novel mutation in the FBN-1 gene.
Intervention(S):
The MDA of single cells and PCR tests for PGD.
Main Outcome Measure(S):
Allele drop-out (ADO), amplification efficiency rates, and the ability to detect Marfan syndrome using MDA.
Result(S):
We report that isothermal whole-genome amplification from single cells allowed analysis of five different loci using standard conditions. The development of a MDA-PGD protocol for Marfan syndrome allowed for the diagnosis of seven embryos. These were biopsied on day 3 of culture and analyzed. Two healthy embryos were transferred 48 hours after culture, resulting in a singleton ongoing pregnancy and the birth of a healthy child.
Conclusion(S):
The MDA technique is useful for overcoming the problem of insufficient genomic DNA in PGD. The use of MDA as a universal step marks a new cycle for PGD as it allows for the diagnosis of any known gene defect by standard methods and conditions.
