The Diagnosis Pattern of Mid-Trimester Fetal Chromosomal Aneuploidy in Xuzhou and the Clinical Applications

Cell Biochemistry and Biophysics
Yuan FangYujuan Xia

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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Citations

Nov 11, 2017·The Cochrane Database of Systematic Reviews·Mylène BadeauFrançois Rousseau

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