Resumen

MA, Cen; SUN, Lingyan  y  LI, Li. Karyotype analysis of fetus in pregnant women with different indications for amniocentesis. Invest. clín [online]. 2024, vol.65, n.4, pp.436-444.  Epub 10-Dic-2024. ISSN 0535-5133.  https://doi.org/10.54817/ic.v65n4a04.

To analyze the karyotype distribution in 1285 pregnant women and evaluate the association between karyotype and diagnostic indications of fetal chromosomal abnormalities, 1285 pregnant women with prenatal diagnostic indications and successful amniocentesis admitted to our hospital from July 2019 to June 2022 were selected as study subjects for fetal karyotype analysis. The distribution of prenatal diagnostic indications and abnormal karyotypes were recorded, and the association between abnormal karyotypes and different diagnostic indications was analyzed. Ninety-six abnormal chromosomal karyotypes in amniotic fluid cells were detected in the samples, with an abnormality rate of 7.47%. Chromosome numerical abnormalities accounted for 70.83% (68/96), and the detection rate was 5.29% (68/1285), the most common category of abnormal kariotypes, trisomy 21, was the most common among them, accounting for 44.79% (43/96). Advanced maternal age and high risk of serologic screening were the main indications for prenatal diagnosis. The highest detection rates were for abnormal non-invasive prenatal DNA testing and one parent carrying chromosome abnormality, 27.63% and 42.86%, respectively. Karyotype analysis of pregnant women with indications for amniocentesis is effective in screening for fetal chromosomal abnormalities and reducing congenital anomalies.

Palabras clave : prenatal diagnosis; amniocentesis; karyotype analysis; chromosomal abnormalities.

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