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Clinical and Experimental Obstetrics & Gynecology  2021, Vol. 48 Issue (5): 1167-1177    DOI: 10.31083/j.ceog4805187
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Successful strategy of comprehensive pre-implantation genetic testing for Duchenne muscular dystrophy and chromosome balance using karyomapping and fluorescent PCR
Suchada Mongkolchaipak1, †, Sirivipa Piyamongkol2, †, Chutithep Teekaput3, Rungthiwa Sirapat1, Wanwisa Suriya4, Tawiwan Pantasri4, Theera Tongsong4, Wirawit Piyamongkol4, *()
1Suchada IVF Center, Sriracha, 20130 Chon Buri, Thailand
2Department of Pharmaceutical Sciences, Faculty of Pharmacy, Chiang Mai University, 50200 Chiang Mai, Thailand
3Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, 50200 Chiang Mai, Thailand
4Department of Obstetrics and Gynaecology, Faculty of Medicine, Chiang Mai University, 50200 Chiang Mai, Thailand
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Abstract  
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.
Key words:  Duchenne muscular dystrophy (DMD)      Embryo selection      Haplotyping      Karyomapping      Pre-implantation genetic testing for monogenic disease (PGT-M)     
Submitted:  12 April 2021      Revised:  25 April 2021      Accepted:  18 May 2021      Published:  15 October 2021     
Fund: 
CMU-2563/National Research Council of Thailand and Chiang Mai University Research
*Corresponding Author(s):  Wirawit Piyamongkol     E-mail:  wirawit.p@cmu.ac.th
About author:  These authors contributed equally.

Cite this article: 

Suchada Mongkolchaipak, Sirivipa Piyamongkol, Chutithep Teekaput, Rungthiwa Sirapat, Wanwisa Suriya, Tawiwan Pantasri, Theera Tongsong, Wirawit Piyamongkol. Successful strategy of comprehensive pre-implantation genetic testing for Duchenne muscular dystrophy and chromosome balance using karyomapping and fluorescent PCR. Clinical and Experimental Obstetrics & Gynecology, 2021, 48(5): 1167-1177.

URL: 

https://ceog.imrpress.com/EN/10.31083/j.ceog4805187     OR     https://ceog.imrpress.com/EN/Y2021/V48/I5/1167

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