Related Experiment Video
Updated: Jun 9, 2025
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM
Yaqian Wang1,2, Yang Li1,2, Lidong Zeng3
1The First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Background:
Split hand/foot malformation (SHFM) is a congenital limb deficiency characterized by missing or shortened central digits. Several gene loci have been associated with SHFM. Identifying microduplications at the single-cell level is challenging in clinical practice, and traditional detection methods may lead to misdiagnoses in embryos and pregnant women.
Results:
In this research, we utilized a low cell count and whole-genome amplification products to employ single nucleotide polymorphism arrays, next-generation sequencing, and third-generation sequencing methods to detect copy number variants of microduplications in a SHFM3 case with limited DNA. Additionally, Karyomapping and combined linkage analysis were conducted to validate the results.
Conclusions:
This study establishes a new strategy for identifying microduplications or microdeletions at the single-cell level in clinical preimplantation genetic testing, enhancing the efficiency and accuracy of diagnosing microduplication or microdeletion diseases during IVF-PGT and prenatal diagnosis.
More Related Videos
09:15Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
11:54Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019