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Updated: Jul 13, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal
Shaoying Li1, Jianchun He, Wenzhi He
1Department of Obstetrics and Gynecology, Experimental Department of Obstetrics and Gynecology Institute, Guangdong Provincial Key Laboratory for Major Obstetric Diseases, Guangdong Provincial Clinical Research Center for Obstetrics and Gynecology, Guangdong-Hong Kong-Macao Greater Bay Area Higher Education Joint Laboratory for Maternal-Fetal Medicine, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China. 81292522@163.com.
Objective:
To explore the clinical application of preimplantation genetic testing for monogenic disorders (PGT-M) in an unique case with Spinal muscular atrophy (SMA) type 2+0.
Methods:
A special SMA family presented at the Third Affiliated Hospital of Guangzhou Medical University on October 19, 2020 was selected as the study subject. Multiple ligation-dependent probe amplification (MLPA) and molecular tagging linkage analysis were carried out to identify the SMN1 genotype of the couple and their fetus. Subsequently, next-generation sequencing (NGS), molecular tagging linkage analysis, and chromosomal microarray analysis were employed to determine the haplotypes and validate the result of PGT-M on the 11 embryos derived for the couple.
Results:
The female partner was identified as a carrier of the rare SMN1[2+0] variant, and prenatal diagnosis confirmed the fetus to be affected by SMA. Ultimately, PGT-M has successfully selected four embryos free from the pathogenic SMN1 variants and X chromosome deletion.
Conclusion:
PGT-M can effectively prevent the transmission of rare genetic variants such as the SMA 2+0 subtype in the families. Above finding has provided guidance for genetic counseling and family planning for the couple.
