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Updated: Dec 9, 2025
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
[Non-invasive prenatal testing and genetic analysis of a fetus with partial trisomy 21]
Na Ma1, Jing Liu, Jiancheng Hu
1Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China. wanghua213@aliyun.com.
Objective:
To carry out prenatal diagnosis for a fetus with high risk predicted by non-invasive prenatal testing (NIPT).
Methods:
Next-generation sequencing (NGS) was used to analyze free fetal DNA (ffDNA) in the maternal plasma. Chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were used to ascertain copy number variation in the fetus and its parents.
Results:
SNP-array analysis and chromosomal karyotyping revealed that the fetus had a 15.018 Mb duplication at 4q34.1q35.2 and a 7.678 Mb duplication at 21q11.2q21.1, which were derived from a t(4;21)(q34.1;q21.1) translocation carried by its mother.
Conclusion:
NIPT is capable of detecting submicroscopic chromosomal abnormalities of the fetus. Combined use of genetic techniques, in particular SNP-array, is crucial for the diagnosis of partial trisomy 21q in this case.
