Prenatal Diagnosis of Y Chromosome Abnormalities in Amniotic Fluid Cells:A Case Series of 7 Cases
ZHOU Jing
JI Xiu-qing
LI Li
LIU An
WANG Yu-guo
ZHOU Ran
XU Zheng-feng
Abstract：Objective:To analyze 7 cases of Y chromosome abnormalities detected in amniotic fluid cells through prenatal testing,evaluate the correlations between different testing methodologies,and provide guidance for accurate interpretation of results in prenatal genetic counseling.Methods:We retrospectively reviewed 7 cases with prenatal testing diagnosis of Y chromosome abnormalities.Testing modalities included karyotype analysis,chromosomal microarray analysis(CMA),multiplex ligation-dependent probe amplification(MLPA),fluorescence in situ hybridization(FISH),and optical genome mapping(OGM).Comprehensive results were derived by integrating findings from these complementary techniques.Results:Among the 7 cases,6 exhibited mosaics(excluding Case 2).Case 1,2,6,and 7 showed consistent Y chromosome abnormalities across all testing methods.In contrast,Case 3,4,and 5 demonstrated discordant results between techniques.Conclusions:For accurate assessment of fetal Y chromosome status,we recommended a combined approach utilizing conventional karyotyping supplemented by molecular and cytogenetic methods(CMA/MLPA/FISH/OGM)to obtain comprehensive genomic information.Clinicians should correlate the specific type of Y chromosome abnormality with test results to predict potential postnatal phenotypes and provide appropriate genetic counseling.
Keywords：Prenatal diagnosisY chromosomeSex chromosome aberrationsKaryotypingMicroarray analysisGenetic counseling
Publication Date：2025-08-15
Online Publishing Date：2025-09-23(First online date of this platform, not the publication date of the document)
Pages：8( 394-401 )