A PEER-REVIEWED JOURNAL OF RESEARCH AND CLINICAL MEDICINEISSN 1727-2378 (Print)         ISSN 2713-2994 (Online)
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Next-Generation Sequencing for Evaluation of Chromosomal Abnormalities in the Cells of Non-Viable Chorionic Villi

For citation: Glinkina Zh. I., Kurtser M. A., Budnik I. V. Next-Generation Sequencing for Evaluation of Chromosomal Abnormalities in the Cells of Non-Viable Chorionic Villi. Doctor.Ru. 2017; 7(136): 43–45.

Study Objective: To determine the frequency and types of chromosomal abnormalities in chorionic cells in non-viable pregnancy using next-generation sequencing (NGS).

Materials and Methods: One hundred and ninety-seven samples of chorionic villi and two samples of fetal muscle tissue were collected from women with non-viable pregnancies, aged 18 to 45 (mean age, 34.3 years). Diagnosis was made using NGS. Chorionic villi cells with known abnormalities, collected during surgical abortion procedures performed at patients’ request, were used as control material.

Study Results: Chromosomal abnormalities were detected in 122 (61.3%) of the 199 samples. One extra or missing chromosome (aneuploidy) was found in 100 cases (82.0%), abnormality affecting two chromosomes in seven cases (5.7%), triploidy in nine cases (7.4%), and a mosaic aneuploidy in six cases (4.9%). Trisomy was detected in 76% of the cases, and was the most common abnormality. A missing sex chromosome was the most common type of monosomy. Abnormalities affecting chromosomes 16, 22, and one of the sex chromosomes were seen most frequently.

Conclusion: NGS is an state-of-the-art highly effective tool for detecting aneuploidy. It may be recommended not only as a method for evaluating non-viable chorionic villi cells, but also as a prevention method in prenatal diagnosis.

Zh. I. Glinkina — Mother and Baby Perinatal Medical Center, Moscow. E-mail: janna435@yandex.ru

M. A. Kurtser — Mother and Baby Perinatal Medical Center, Moscow. E-mail: m.kurtser@mcclinics.ru

I. V. Budnik — Mother and Baby Perinatal Medical Center, Moscow. E-mail: irina_budnik@bk.ru

Доктор.ру
LITERATURE
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