Prenatal diagnosis of a fetus with 46,XX (SRY positive) male syndrome.

VernacularTitle:一例 SRY阳性46，XX男性综合征胎儿的产前诊断
Author: Danhua SHI ¹ ; Yuxin ZHANG ; Ying ZHOU ; Qianqian MAO ; Haibo LI
Author Information

1. Ningbo Municipal Key Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children's Hospital, Zhejiang 315000, China. lihaibo-775@163.com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(9):1039-1042
CountryChina
Language:Chinese
Abstract: OBJECTIVE:To carry out genetic testing for a XXY fetus suggested by non-invasive prenatal testing (NIPT).
METHODS:G-banding karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) were performed on amniocytes from the fetus. The genitalia of the fetus was also examined by Doppler ultrasonography. The result was verified with peripheral blood samples from its parents and a brother.
RESULTS:The fetus was found to have a 46,XX karyotype. CMA showed presence of sequences from Yp11.2 (2.635 Mb) and Yp11.31p11.2 (3.706 Mb). FISH assay suggested that the SRY fragment on Yp has translocated to Xpter. No karyotypic or pathogenic CNVs was detected in its parents and brother. The fetus was ultimately diagnosed with 46,XX (SRY positive) male syndrome.
CONCLUSION:The combination of G-banding karyotyping, FISH, and CMA is of great significance for attaining accurate prenatal diagnosis for this fetus.