IMR Press / CEOG / Volume 48 / Issue 5 / DOI: 10.31083/j.ceog4805187
Open Access Original Research
Successful strategy of comprehensive pre-implantation genetic testing for Duchenne muscular dystrophy and chromosome balance using karyomapping and fluorescent PCR
Show Less
1 Suchada IVF Center, Sriracha, 20130 Chon Buri, Thailand
2 Department of Pharmaceutical Sciences, Faculty of Pharmacy, Chiang Mai University, 50200 Chiang Mai, Thailand
3 Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, 50200 Chiang Mai, Thailand
4 Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, 50200 Chiang Mai, Thailand
*Correspondence: (Wirawit Piyamongkol)
These authors contributed equally.
Clin. Exp. Obstet. Gynecol. 2021, 48(5), 1167–1177;
Submitted: 12 April 2021 | Revised: 25 April 2021 | Accepted: 18 May 2021 | Published: 15 October 2021
Copyright: © 2021 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license (

Background: Duchenne muscular dystrophy (DMD) is major childhood muscular dystrophy. Pre-implantation genetic testing (PGT) is an alternative to prenatal diagnosis. This study performed SNP microarray with karyomapping PGT of DMD in comparison to PCR-based techniques for validation. Methods: Two families at risk of having DMD offspring decided to have karyomapping PGT. PCR protocol using mini-sequencing and intragenic microsatellites-based linkage analysis was developed and applied. Results: Karyotyping results of family DA (DMD c.895G>T) exhibited three normal, two carriers, two affected and two with intragenic recombination. Karyomapping results of family DB (DMD exon 8 and 9 duplication) showed four normal, two carriers, two affected and one with intragenic recombination. One embryo was chromosome unbalanced and one was uniparental disomy. Conclusion: Successful karyomapping PGT for DMD was successfully performed. Limited number of embryos were tested due to its expensive consumables. Intragenic recombination precluded haplotyping. Karyomapping provides advantages of CNV and parental origin information.

Duchenne muscular dystrophy (DMD)
Embryo selection
Pre-implantation genetic testing for monogenic disease (PGT-M)
CMU-2563/National Research Council of Thailand and Chiang Mai University Research
Fig. 1.
Back to top