Abstract
The objective of this study is to explore the diagnosis pattern of mid-trimester fetal chromosomal aneuploidy and its clinical applications. A large group of pregnant women (18–34 years) received dual serological screening. The elderly pregnant women, who were at high and critical risk and refused amniocentesis, underwent non-invasive detection of fetal DNA upon recommendation. Then, the pregnant women with positive non-invasive detection results received amniocentesis, amniotic cell culture, and karyotype analysis for confirmation. In total, 24,520 women and 629 elderly women (>35 years) received amniocentesis, amniotic cell culture, and karyotype analysis, and 1512 women received non-invasive detection of fetal DNA. A total of 275 women received invasive prenatal diagnosis. Seventeen cases of trisomy 21, 3 cases of trisomy 18, and 2 cases of sex chromosomal abnormality were diagnosed. The serological screening–gene detection–prenatal diagnosis for mid-trimester fetal chromosomal aneuploidy increased the detection rate, and decreased the frequency of invasive prenatal diagnosis.
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Yuan Fang and Guangming Wang are co-first authors.
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Fang, Y., Wang, G., Wang, C. et al. The Diagnosis Pattern of Mid-Trimester Fetal Chromosomal Aneuploidy in Xuzhou and the Clinical Applications. Cell Biochem Biophys 73, 267–270 (2015). https://doi.org/10.1007/s12013-015-0594-8
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DOI: https://doi.org/10.1007/s12013-015-0594-8