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Published: 2025-07-28
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DOI: https://doi.org/10.52852/tcncyh.v192i7.3374
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Vol. 192 No. 7 (2025)
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Hưng, M. T., Hương, N. T., & Linh, Đinh T. (2025). 17. Diagnostic utility of amniotic fluid karyotyping in prenatal diagnosis at Hanoi Obstetrics and Gynecology Hospital. Journal of Medical Research, 192(7), 152-161. https://doi.org/10.52852/tcncyh.v192i7.3374

17. Diagnostic utility of amniotic fluid karyotyping in prenatal diagnosis at Hanoi Obstetrics and Gynecology Hospital

Mai Trong Hung, Nguyen Thi Huong, Dinh Thuy Linh

Main Article Content

Abstract

Conventional karyotyping remains a fundamental and routinely utilized cytogenetic assay in prenatal diagnostic centers. This study aims to illustrate chromosomal abnormalities and assess the diagnostic utility of karyotyping in cases undergoing amniocentesis based on various clinical indications. The detection rate was 11.49%, including 8.5% with numerical chromosomal abnormalities, 1.6% with structural chromosomal abnormalities, 1.3% with mosaicism, and 0.09% with other genetic abnormalities. Among the seven indications for amniocentesis, the highest number was abnormal ultrasound findings (1,792 cases, 54.7%) with a chromosomal aberration rate of 11.2%. The highest detection rate was observed in parents with genetic abnormalities (38.5%). The highest positive predictive value was found in the NIPT combined with the other indication group (65%). In conclusion, karyotyping remains a highly significant test for detecting chromosomal aberrations in prenatal diagnosis.

Article Details

Keywords

Chromosomal aberration, karyotyping, amniocentesis indications

References

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