Prenatal genetic diagnosis of a partial 21 trisomy fetus with nasal bone dysplasia.

Author: Jian ZHANG ¹ ; Xiaolu CHEN ; Yu JIANG ; Wenbo WANG ; Meijiao CAI ; Hui KONG ; Yunsheng GE
Author Information

1. Women and Children's Hospital Affiliated to Xiamen University, Central Laboratory of Xiamen Maternal and Child Health Care Hospital, Xiamen, Fujian 361003, China. gshee@163.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(10):1172-1175
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To explore the nature of chromosomal abnormality in a fetus with nasal bone dysplasia and clarify its clinical effect.
METHODS:Fetal chromosome karyotype was analyzed by G-banding. Single nucleotide polymorphism array (SNP-array) was used to detect the chromosomal copy number variations, and fluorescence in situ hybridization (FISH) was used to verify the result.
RESULTS:Fetal karyotype analysis showed an unknown chromosomal fragment in 21q21 region. SNP-array discovered a 7.5 Mb duplication in the 21q22.12q22.3 region. FISH confirmed that the unknown fragment was derived from a 21q22.12q22.3 duplication.
CONCLUSION:Combined use of karyotype analysis, SNP-array and FISH has clarified the nature of chromosomal abnormality in a fetus with nasal bone dysplasia, which has enabled more accurate prenatal diagnosis and genetic counseling.