Prenatal Diagnosis of Y Chromosome Abnormalities in Amniotic Fluid Cells: A Case Series of 7 Cases

doi:10.12280/gjfckx.20250032

Abstract

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.

Key words: Prenatal diagnosis, Y chromosome, Sex chromosome aberrations, Karyotyping, Microarray analysis, Genetic counseling

ZHOU Jing, JI Xiu-qing, LI Li, LIU An, WANG Yu-guo, ZHOU Ran, XU Zheng-feng. Prenatal Diagnosis of Y Chromosome Abnormalities in Amniotic Fluid Cells: A Case Series of 7 Cases[J]. Journal of International Obstetrics and Gynecology, 2025, 52(4): 394-401.

Figures/Tables 7

References 21

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