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Published on: September 14, 2019
Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy
Bianca Bianco1, Denise Maria Christofolini1, Gabriel Seixas Conceição1
1Faculdade de Medicina do ABC, Santo André, SP, Brazil.
Insights
Preimplantation genetic diagnosis offers hope for families affected by Duchenne muscular dystrophy. This case study shows PCR and array CGH safely identified viable embryos for successful pregnancy.
Area of Science:
- Reproductive Medicine
- Clinical Genetics
- Molecular Biology
Background:
- Duchenne muscular dystrophy (DMD) is a severe X-linked genetic disorder with no effective cure.
- Prenatal diagnosis and genetic counseling are crucial for affected families.
- Preimplantation genetic diagnosis (PGD) offers an alternative to prenatal diagnosis for preventing affected births.
Observation:
- A couple with a history of DMD due to a specific DMD gene mutation pursued PGD.
- Intracytoplasmic sperm injection (ICSI) was used, followed by embryo biopsy.
- Embryos were analyzed using polymerase chain reaction (PCR) for the DMD mutation and array comparative genomic hybridization (array CGH) for aneuploidy.
Findings:
- Out of eight biopsied embryos, two carried the DMD mutation, one had a chromosomal abnormality, and five were genetically normal.
- A single normal blastocyst transfer resulted in a successful pregnancy.
- The combined PCR and array CGH approach allowed for accurate embryo selection.
Implications:
- PGD combined with PCR and array CGH is a safe and effective strategy for selecting embryos in X-linked disorders like DMD.
- This approach can help couples avoid passing on severe genetic conditions.
- It provides a viable reproductive option for families at high risk of DMD.
Abstract:
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.
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